All posts by medical

The Heart of the Matter: Leveraging Advances in Cardiac Biology to Innovate Gene-Based Therapies for Heart Failure – Physician’s Weekly

Heart failure (HF) is the most frequent cardiovascular diagnosis and exacts significant health and financial costs around the globe. It is estimated that at least 26 million people worldwide are living with HF, including nearly 6 million in the United States.1, 2 One in nine U.S. deaths in 2009 included heart failure as a contributing cause and about 50 percent of people in the U.S. with HF die within five years of diagnosis.2 The annual cost of HF-related healthcare services, medication and missed days of work is estimated at $40 billion in the United States and $108 billion globally.3, 4 Quality of life in HF patients is frequently worse than many other chronic diseases and comorbidities are common.5-7 The challenges of HF are expected to grow, as it is estimated that more than 8 million people in the United States alone will have HF by 2030.2 Current therapies improve quality of life in the short-term and have improved long-term survival but a significant number of patients have Class 3 HF despite optimal medical and device therapy. These patients have limited treatment options beyond heart transplant and left ventricular assist devices (LVAD). New therapeutic approaches that address the underlying causes of HF are needed to improve patient outcomes.

Heart failure is a complex disease process and multiple pathways contribute to its development and progression. Myocardial ischemia is frequently an issue in both ischemic and non-ischemic cardiomyopathy as well as HF with preserved and/or reduced ejection fraction. Myocardial ischemia results in insufficient oxygen and nutrients and leads to hypoxia, cardiomyocyte and fibrosis, which all contribute to the progression of heart failure. More effective angiogenesis may prevent this progression. Cell homing also plays a critical role, as injured cardiac tissue secretes factors that lead to the recruitment, proliferation, migration and differentiation of progenitor cells that can help repair tissue damage. Stromal cell-derived factor (SDF)-1 has been shown to play an important role in cardiac repair by mediating cell homing.10 Mitochondrial energy generation is also impaired in HF, leading to decreased contractility and adverse changes to cardiac architecture.11 Scar tissue formed in response to cardiomyocyte injury or death can compromise the hearts mechanical strength or electrical signaling results in myocardial infarction. Inflammatory responses to cardiac tissue damage can promote inappropriate and chronic inflammation and the expression of pro-inflammatory molecules that lead to pathologic changes to cardiac architecture.12, 13

These pathways offer a variety of potential new targets for therapeutic intervention to prevent the development and progression of HF. This opens the door to the development of novel therapies that address the underlying molecular and cellular causes of disease rather than treating HF symptoms alone.

After decades of development, gene-based therapies are now validated therapeutic modalities for the treatment of inherited retinal disorders and cancer and are undergoing clinical evaluation in a variety of inherited, acute and chronic diseases. Nearly two dozen single gene-based therapies for HF have been evaluated in clinical trials.14 Genes evaluated as monogenic gene therapy for HF in clinical trials include vascular endothelial growth factor (VEGF) and fibroblast growth factor type 4 (FGF4) to promote angiogenesis; adenylyl cyclase type 6 (AC6) and sarco/endoplasmic reticulum Ca2+-ATPase type 2 (SERCA2) to improve cardiac calcium homeostasis, which plays a critical role in the contraction and relaxation of heart muscle; and stromal cell-derived factor-1 (SDF-1) to improve cell homing and promote cardiac tissue repair. Late-stage trials of single gene therapies have yielded conflicting results, raising the question as to whether positively impacting a single pathway can be sufficient to overcome detrimental activity of other pathways that contribute to the development and progression of HF. Other potential limitations to HF therapies evaluated in clinical trials to date include the method of delivery, dose and the potency of vectors and gene products.

Given the multiple molecular and cellular pathways active in HF, a multi-gene approach to HF gene therapy may be needed. Simultaneously delivering multiple genes that target diverse HF-related pathways has the potential to improve cardiac biology and function. A triple gene therapy approach (INXN-4001, Triple-Gene LLC, a majority-owned subsidiary of Intrexon Corporation) is currently in clinical development, with each of the genes targeting a specific HF-related pathway. The investigational drug candidate INXN4001 vector expresses: the S100A1 gene product, which regulates calcium-controlled networks and modulates contractility, excitability, maintenance of cellular metabolism and survival; SDF-1a which recruits stem cells, inhibits apoptosis and supports new blood vessel formation; and VEGF-165 which initiates new vessel formation, endothelial cell migration/activation, stem cell recruitment and tissue regeneration. The hypothesis is that the simultaneous delivery of multiple genes in a single vector would more effectively improve multiple aspects of cardiac function compared with single gene therapy. It is delivered by retrograde coronary sinus infusion of a triple effector plasmid designed with a self-cleaving linker to constitutively express human S100A1, SDF-1a and VEGF 165. This route is designed to allow for delivery of a dose to the ventricle which may help achieve improved therapeutic effect.

Several preclinical studies have set the foundation on which to advance a triple gene therapy for HF into the clinic.15-17 Using in vitro studies, transfecting cells derived from patients with dilated cardiomyopathy with a triple gene combination demonstrated improvement in contraction rate and duration, to the levels demonstrated by the control cells and did not result in increased cell death compared to controls.15 Studies in an Adriamycin-induced cardiomyopathy rodent model demonstrated triple gene therapy increased fractional shortening and myocardial wall thickness compared to controls.16 In addition, retrograde coronary sinus infusion of INXN-4001 in a porcine model of ischemic HF resulted in a cardiac-specific biodistribution profile.17

A Phase 1 clinical study has been initiated to evaluate the safety of a single dose of triple gene therapy in stable patients implanted with a LVAD for mechanical support of end-stage HF. An independent Data and Safety Monitoring Board agreed to proceeding to the second cohort following review of the data from the first cohort in the multi-site study.18 The study is ongoing and final results will help to inform our understanding of the potential that multi-gene therapy may play in the treatment of HF.

The recent FDA approvals of gene therapies for an inherited retinal disease and cancer are evidence that gene therapy is a valid therapeutic strategy. Realizing the potential of gene therapy in HF will require appropriately designed clinical trials, but several interesting approaches currently in development may prove to be effective. The results of the initial investigational drug INXN-4001 Phase 1 trial should provide insight into the safety of combining S100A1, SDF-1a and VEGF-165. Evaluation of additional multi-gene combinations will also be important for understanding which targeted pathways yield the greatest effects with respect to relevant clinical endpoints. Continued refinement and optimization of vector design and delivery methods will also be important for advancing further HF gene therapies from bench to bedside.

Read more from the original source:
The Heart of the Matter: Leveraging Advances in Cardiac Biology to Innovate Gene-Based Therapies for Heart Failure - Physician's Weekly

People pay $500 for these custom cannabis-infused meals – INSIDER

Following is a transcript of the video.

Joe Avella: These gourmet dishes not only taste amazing but also give you a euphoric feeling because they are infused with cannabis. Chris Sayegh, aka The Herbal Chef, is a pioneer of cannabis-infused fine dining. Through his catered events, he's raised the bar on what is possible when mixing cannabis and high-end cuisine.

Chris Sayegh: It's more of a slight elevation rather than a overwhelming experience, and we have measurements in place from our staff to our food so that you don't get overwhelmed. I'm gonna show you how we incorporate CBD, THC, and terpenes throughout the meal.

Joe: Great.

Chris: Yeah.

Joe: His hard work and vision are paying off. He recently announced the opening of Herb in Los Angeles, a one-of-a-kind restaurant that will serve his cannabis-infused cuisine. We visited Chris at his home to learn more about his culinary cannabis journey.

Chris: I was studying molecular cell biology, going to medical school, but I wanted to be in preventative health. So, with that, I left, and I started to cook in kitchens.

Joe: Chris experimented on his own with cannabis in cooking, making elaborate, beautiful meals with minor THC dosage because he wanted to actually enjoy his meal instead of feeling too heavy or high.

Chris: The most paramount difference for all of this is what infusion is verses dosage. Infusion is putting a herb into a fat and then heating it up, and that infuses flavor and the THC and CBD into that. Great. Everybody and anybody can do that. What dosage is is infusing the herb and the flavor and the components into the fat at a consistent measurement. So, that way, you can know exactly how much THC, CBD, and terpenes you're providing to the customer in the meal.

Joe: Chris uses a nanotechnology that allows the THC and cannabinoids to absorb more efficiently into the body. Adding the cannabinoids doesn't affect the cooking process much, but a crucial step is at a stage where the lipids, or fats, will homogenize properly for even THC distribution.

Chris: If you don't homogenize correctly, which means to mix everything thoroughly and spread it out evenly, then one person's gonna get a big glob of the THC and another person's not gonna get anything. One person is gonna be in a fetal position and the other person is gonna be chilling, saying, "Why did I just pay for nothing?"

Joe: Chris was kind enough to whip up a few dishes for us to give us an overview of what he offers at his dining events. The events are usually 10 courses and include wine and spirits.

Chris: One of them is going to be a crab salad with a tabbouleh relish. And then there's going to be Wagyu dusted with caramelized onion and charcoal powder. And then there is a striped sea bass with a Broccolini and dashi soda. There is going to be a palate cleanser with peach and cream. For a vegetable course, we're going to do a mille-feuille of different root vegetables along with a compound black pepper and thyme butter. The whole idea is to use cannabis in all of its different forms, showcasing what we're able to do as we strive and push forward to hopefully earn a Michelin star in the future.

Joe: At a Herbal Chef event, each diner starts with a questionnaire to help Chris and his team gauge their tolerance and plan that diner's specific dosage.

Chris: So, we have many first-timers come to our events and to eat with us. Their biggest apprehension across the board is, "I've never tried it; I don't want to get too high." And it's totally reasonable. The whole idea is we want to take you along a journey. We want to take you along an experience rather than you go out for a quick bite to eat.

See the original post:
People pay $500 for these custom cannabis-infused meals - INSIDER

AI and gene-editing pioneers to discuss ethics – Stanford University News

Upon meeting for the first time at a dinner at Stanford earlier this year, Fei-Fei Li and Jennifer Doudna couldnt help but note the remarkable parallels in their experiences as scientists.

Stanfords Fei-Fei Li and Jennifer Doudna of UC Berkeley will discuss the ethics of artificial intelligence and CRISPR technology. (Image credit: Getty Images)

Both women helped kickstart twin revolutions that are profoundly reshaping society in the 21st century Li in the field of artificial intelligence (AI) and Doudna in the life sciences. Both revolutions can be traced back to 2012, the year that computer scientists collectively recognized the power of Lis approach to training computer vision algorithms and that Doudna drew attention to a new gene-editing tool known as CRISPR-Cas9 (CRISPR for short). Both pioneering scientists are also driven by a growing urgency to raise awareness about the ethical dangers of the technologies they helped create.

It was just incredible to hear how similar our stories were. Not just the timing of our scientific discoveries, but also our sense of responsibility for the ethics of the science are just so similar, said Li, who is a professor of computer science at Stanfords School of Engineering and co-director of the Stanford Institute for Human-Centered Artificial Intelligence (HAI).

The ethical angle to what we were doing was not something that either of us anticipated but that we found ourselves quickly drawn to, said Doudna, who is a professor of chemistry and of molecular and cell biology at the University of California, Berkeley.

The echoes between Li and Doudnas lives were also not lost on the dinner host that night, Stanford political science professor Rob Reich, who invited the pair to resume their conversation in public. Their talk, titled CRISPR, AI, and the Ethics of Scientific Discovery, will take place at Stanford on Nov. 19 and will be moderated by Stanford bioengineering professor Russ Altman(livestream will be available here).

The event is organized by the Stanford McCoy Family Center for Ethics in Society and HAI and is part of the Ethics, Society & Technology Integrative Hub that arose from the universitys Long-Range Vision.

The subject of the lecture hits the sweet spot of what the Integrative Hubs work is about, which is to cultivate and support the large community of faculty and students who work at the intersection of ethics, society and technology, said Reich, who directs the Center for Ethics in Society and co-directs the Integrative Hub.

I cant think of two better people to engage in a conversation and to really take seriously these questions of how, as you discover the effects of what youve created, do you bring ethical implications and societal consequences into the discussion? said Margaret Levi, a professor of political science at Stanfords School of Humanities and Sciences. Levi is also the Sara Miller McCune Director of the Center for Advanced Study in the Behavioral Sciences and co-director of the Integrative Hub.

Fei-Fei Li is a professor of computer science and co-director of Stanfords Institute for Human-Centered Artificial Intelligence. (Image credit: L.A. Cicero)

In 2006, Li wondered if computers could be taught to see the same way that children do through early exposure to countless objects and scenes, from which they could deduce visual rules and relationships. Her idea ran counter to the approach taken by most AI researchers at the time, which was to create increasingly customized computer algorithms for identifying specific objects in images.

Lis insight culminated in the creation of ImageNet, a massive dataset consisting of millions of training images, and an international computer vision competition of the same name. In 2012, the winner of the ImageNet contest beat competitors by a wide margin by training a type of AI known as a deep neural network on Lis dataset.

Li immediately understood that an important milestone in her field had just been reached, and despite being on maternity leave at Stanford, flew to Florence, Italy, to attend the award ceremony in person. I bought a last-minute ticket, Li said. I was literally on the ground for about 18 hours before flying back.

Computer vision and image recognition are largely responsible for AIs rapid ascent in recent years. They enable self-driving cars to detect objects, Facebook to tag people in photos and shopping apps to identify real-world objects using a phones camera.

Within a year or so of when the ImageNet result was announced, there was an exponential growth of interest and investment into this technology from the private industry, Li said. We recognized that AI had gone through a phase shift, from being a niche scientific field to a potential transformative force of our industry.

The field of biology underwent its own phase shift in the summer of 2012 when Doudna and her colleagues published a groundbreaking paper in the journal Science that described how components of an ancient antiviral defense system in microbes could be programmed to cut and splice DNA in any living organism, including humans, with surgical precision. CRISPR made genomes as malleable as a piece of literary prose at the mercy of an editors red pen, Doudna would later write.

CRISPR could one day enable scientists to cure myriad genetic diseases, eradicate mosquito-borne illnesses, create pest-resistant plants and resurrect extinct species. But it also raises the specter of customizable designer babies and lasting changes to the human genetic code through so-called germline editing, or edits made to reproductive cells that are transmitted to future generations.

This bioethics nightmare scenario was realized last fall when a Chinese researcher declared that he had used CRISPR to edit the genomes of twin girls in order to make them resistant to HIV. Doudna decried the act but allows that her own views on germline editing are still evolving.

Ive gone from thinking never, ever to thinking that there could be circumstances that would warrant that kind of genome editing, she said. But it would have to be under circumstances where there was a clear medical need that was unmet by any other means and the technology would have to be safe.

Both Li and Doudna fervently believe in the potential of their technologies to benefit society. But they also fear CRISPR and AI could be abused to fuel discrimination and exacerbate social inequalities.

The details are different for CRISPR and AI, but I think those concerns really apply to both, Doudna said.

Rather than just leaving such concerns to others to work out, both scientists have stepped outside of the comfort of their labs and taken actions to help ensure their worst fears dont come to pass. I almost feel that at this point of history I need to do this, not that its my natural tendency, Li said. It really is about our collective future due to technology.

Both scientists have testified before Congress about the possibilities and perils of their technologies. Li also co-launched a nonprofit called AI4All to increase inclusion and diversity among computer engineers and she co-directs Stanford HAI, which aims to develop human-centered AI technologies and applications. Doudna spends significant time talking to colleagues, students and the public about CRISPR. In 2015 she organized the first conference to discuss the safety and ethics of CRISPR genome editing.

Because we were involved in the origins of CRISPR, I felt it was especially important for my colleagues and me to be part of that discussion and really help to lead it, Doudna said. I asked myself, If I dont do it, who will?

To read all stories about Stanford science, subscribe to the biweekly Stanford Science Digest.

Altman is the Kenneth Fong Professor of Bioengineering, Genetics, Medicine, Biomedical Data Science and host of the Stanford Engineering radio show The Future of Everything. Levi is a member of Stanford Bio-X, the Wu Tsai Neurosciences Institute, and the Stanford Woods Institute for the Environment. Li is the Sequoia Capital Professor at Stanford and a member of Stanford Bio-X and the Wu-Tsai Neurosciences Institute.

Read more here:
AI and gene-editing pioneers to discuss ethics - Stanford University News

Advanced life savers for cancer: From science fiction to reality Brendan J. Gomez – Malay Mail

NOVEMBER 16 Once science fiction, the treatment of cancer using genetic modification is now a reality. Gene and immunotherapy are now bringing vast life-saving options for people diagnosed with cancer. But more needs to be done to raise awareness of this in Malaysia.

In Malaysia, more than 100,000 people have cancer and that is only registered figures. It is the fourth leading cause of death in the country. In 2018, the highest new cases in Malaysian females are due to breast cancer, and the highest for men are lung and colon cancer.

Cancer is the uncontrolled or unregulated growth of cells in our body. Gene therapy is the editing or replacement of genes in cells that have gone haywire. The easiest way to think about gene therapy is surgery. But instead of surgery on the whole person and being wheeled to the operating theatre, gene therapy is seen as surgery on specific problematic cells in our body.

While immunotherapy is a strategy in improving our immune system to recognise and attack cancer cells. It is similar to equipping our air force with the latest missiles and guiding system.

Gene therapy and immunotherapy make up a suite of advanced clinical approaches that are known as targeted or precision therapy. Advances in precision therapy in the next few years lends promise to do away with the need for chemotherapy and radiotherapy, in particular cancers detected in the early stages; as well as lends promise for where surgery is not possible.

Chemotherapy is often known as carpet bombing it takes out the enemy, but there is quite a bit of unwanted causalities. Thus, more traditional chemotherapies are known for side effects that include hair loss, mouth sores, nausea, bowel issues and skin problems.

Much of the advances in cancer treatment today are due to breakthroughs in genetics, immunology, virology, cell biology, and the related sciences. With the human genome mapped out, researchers have been successful in identifying specific genes that contribute to specific cancers.

Recently, our own Malaysian scientist Dr Serena Nik-Zainal was awarded the Dr Josef Steiner Cancer Research Prize Award 2019 for her breakthrough in holistic interpretation of the cancer genome. Based on her research, tumours can be analysed using new bioinformatics methods which will help with targeted therapies.

To simplify the complexities of gene therapy, there are three key aspects to this technique. We first need to know which gene is causing the type of cancer in question. We then need to know how to repair or replace this gene. And we also need to know what vehicle to transport this fix to the targeted cells.

One recent scientific advancement in gene therapy is known as CRISPR-cas9. CRISPR-cas9 is likened to a science-fiction scissors so small that it can cut and replace our genes that are defective. This tool is valuable for example in switching off a gene in cancer cells that continue to replicate and grow.

While one scientific advancement in immunotherapy is known as CAR T. Here, a persons T-cells are extracted, modified and placed back into the person so as it now has the ability to recognize and destroy cancer cells.

Scientists are still trying to address multiple challenges in the use of gene and immunotherapy. One such challenge in gene therapy includes finding an efficient vector or vehicle to deliver the gene fix to targeted cells. This is partly due to our immune system that can attack a foreign vehicle used in the transportation process.

Another challenge is in production, i.e. in taking what works in research labs and mass producing these therapies with high quality control. The latter contributes to the current high-cost of such advanced strategies to treat cancer.

No matter the challenges, advances in gene and immunotherapy continue exponentially around the world as confidence grows in breakthroughs achieved in treating cancer. In 2017 alone, 2,600 clinical trials were completed or were approved in 38 countries.

Examples of approved products available in the market include Gendicine (for head and neck cancer), Kymriah (for acute lymphoblastic leukaemia), Yescarta (for B-cell lymphoma), Olaparib (for breast and ovarian cancer), and Ibrance (for breast cancer).

This year a new drug called Larotrectinib has shown promise to treat a wide range of tumours. Known as tumour-agnostic, drugs such as Larotrectinib target common biochemical pathways across different types of tumours including sarcomas, brain, kidney, and thyroid tumours.

To better understand advances in cancer detection and treatment, the Department of American Canadian Education (ACE) at HELP University is organising a seminar-cum-forum on 16th November 2019 at their campus in Damansara.

Highly acclaimed speakers include Dr Lim Kue Peng of Cancer Research Malaysia and Dr Murallitharan of National Cancer Society Malaysia.

The event is open to all, including medical professionals, cancer survivors and the general public. For registration and further information, please go to https://helpxcancer.org or https://HELPUSCanada.weebly.com.

* Brendan J. Gomez has a first-class honours in genetics, and postgraduate degrees in psychology under the US Fulbright programme.

** This article is not meant as medical or pharmaceutical advice for cancer patients. Those seeking treatment need to consult with a medical professional, and preferably an oncologist.

*** This is the personal opinion of the writer or publication and does not necessarily represent the views of Malay Mail.

Read more from the original source:
Advanced life savers for cancer: From science fiction to reality Brendan J. Gomez - Malay Mail

UC Davis leads in innovative gene editing research with NIH grants – The Aggie

Researchers strive to address societal health issues through gene editing

In October, three researchers at UC Davis were awarded a $1.5 million grant to fund their project which attempts to demonstrate the effectiveness of gene editing through use of CRISPR, a powerful technology that allows alteration of DNA sequences to change gene function.

This kind of design can help enhance personalized medicine, said R. Holland Cheng, a professor of molecular and cellular biology in the College of Biological Sciences. Specific patients with specific illnesses can be treated in specific ways.

Cheng, along with Kit Lam, a distinguished professor and chair of the Department of Biochemistry and Molecular Medicine in the School of Medicine, and David Segal, a professor in the Department of Biochemistry and Molecular Medicine, were awarded this highly competitive and sought-after grant from the National Institute of Health (NIH).

UC Davis is part of the NIHs Somatic Cell Genome Editing (SCGE) consortium which has awarded grants to 45 other research institutes across the nation so they can begin groundbreaking work on gene editing. Through this consortium, the NIH hopes to find an efficient and safe way to conduct gene editing. Research programs are investigating the best delivery mechanism as well as the most dynamic gene editing tool.

The major problem with gene editing currently is the inability of cells to be edited within a living organism. It has become fairly easy and efficient to edit genes in a cell culture outside of the body but extremely difficult to do the same processes inside the body. Cheng, Lam and Segal are focused on changing this.

The question is how to do it inside of an animal and eventually a human, Lam said.

They are answering this question by utilizing Chengs work in engineering a non-toxic nanoparticle that they hope can transport the gene editing tool CRISPR into the cells of a living organism. Cheng has been able to create a Hepatitis E viral nanoparticle (HEVNP) that when manipulated could be a delivery system for CRISPR. They plan to take this nanoparticle and encase CRISPR inside of it, producing a mechanism for delivery of CRISPR.

The Hepatitis E nanoparticle has the capacity to be a highly efficient way to deliver gene editing to cells in the body due to its unique nature. HEVNP is resistant to the gastric acid environment of the intestines and stomach, enabling it to survive once its entered the body. Given its resistant abilities, HEVNP can be taken orally, making it a useful form of medicine. If able to successfully get HEVNP to the target cells in the body and deploy CRISPR, gene editing abilities could drastically change.

The addition of a cell-type specific targeting ligand to the HEVNP would code the nanoparticle to deliver CRISPR to a specific cell. The abilities of this method to be precise and safe will determine its success.

With five years of funding from the NIH, these three researchers are eager to begin work on this project and see the strides that can be made in gene editing. They have impressive goals for this research, as it has the capacity to reshape medicine.

This will redefine precision medicine as currently there is broad medicine that can cause side effects to people and not be effective, yet by making it specialized it is becoming more precise and effective, Cheng said.

As more effective and safe tools to cure illnesses are being tested and created, the benefits to society could be expansive. With so much potential to help improve the health of society, the NIH is dedicated to coming to new solutions at a quick rate. All programs that received grants will be required to share and utilize the research occurring at other funded programs. The NIH is hoping to eliminate the private nature of research through enforcing the sharing of ideas, as scientists are often constrained by the institutions they work for. It is their hope that by having communication between the programs, positive results will arise faster.

I think this is great because scientists inherently want to work with each other but have real world concerns especially with money, Segal said.

The research results, when groundbreaking, can provide incredible monetary gains and credibility to the institutions that made the discovery. Ultimately, scientists collaborating with one another will serve society as people are able to benefit earlier from this innovative research.

We want the public to know that we are working in their best interest, Segal said.

The NIH grant is competitive and still the third research program to join the consortium at UC Davis. Innovation has never been more prevalent than in this field at UC Davis. With three different programs researching gene editing, UC Davis stands out as a hotspot for this field of research.

Written by: Alma Meckler-Pacheco science@theaggie.org

Read more:
UC Davis leads in innovative gene editing research with NIH grants - The Aggie

Musculoskeletal injury: New cellular targets to assist the tendon repair process – SelectScience

Discover how RNA in situ hybridization assays are being used to advance research into treatments for Achilles tendon injuries

Orthopedic injury, specifically tendon injuries, are extremely prevalent. Depending on the severity of the injury, treatment ranges from rest to surgery. Often, tendon repair is a lengthy process that results in decreased mechanical function and can lead to chronic pain. The cell populations that make up the tendon, and the roles they play in the repair process, remain incompletely understood. Understanding the cellular makeup of tendons and its rolein repair could lead to improved treatments for tendon injuries.

In this exclusive SelectScience interview, we discuss this phenomenon with Jacob Swanson, a scientist in the lab of Dr. Christopher Mendiasin New York. Here, Swanson discusses the Mendias labs extensive research concerning the anatomy and physiology of the Achilles tendon, in both normal health and disease contexts. Swanson highlights how the use ofRNAscope technology has helped his work and why he hopes to continue to use this technology in future studies.

The Achilles tendon connects the calf muscle (the gastrocnemius and soleus) to the heel bone (the calcaneus). The role of the tendon is to transfer load between the soft tissue of the muscle and the hard tissue of the bone. The proximal side of the tendon attaches to the muscle and distal side attaches to the bone. Locating where different cell populations are in respect to this geometry is important when studying the tendon function.

JS:The main project that I've been working on is a descriptive study that aims to better understand the cells that make up the Achilles tendon. One major component of the tendon is a cell population called tenocytes, which are fibroblasts responsible for producing the collagen that makes up the tendon. However, the transcriptomes of cell types within Achilles tendon, including tenocytes, remain poorly characterized. To better understand these cell types, we used single-cell RNA sequencing technology (scRNAseq). Starting with Achilles tendon tissue, we enzymatically broke it down into a single-cell suspension and looked at the genetic information from each individual cell. We then clustered these cells using computational analyses to better understand the transcriptomic heterogeneity of cells in the Achilles. We then used RNAscope technology to histologically validate these cell populations

From this study, we identified interesting findings about fundamental tendon cell biology. We hope that this information can be used as an aid in future experiments and give us a better idea of how to assist the tendon-repair process.

JS:RNAscope technology allows one to visualize gene expression and RNA within cells in a broader histological context. For us, this means that we can see where the genes of interest are within the context of the Achilles tendon. We initially used immunofluorescent protein staining, but this proved ineffective because the markers often became incorporated into the extracellular matrix, making it hard to identify which specific cells these proteins came from. With RNAscope, we can directly probe for the mRNAs highlighted by RNAseq data within the cells, which allows us to more accurately identify and visualize where these novel cell populations are.

In our RNAscope protocol, we have several probes for genes based our scRNAseq data. First, we digest the cells slightly to allow the probe to enter the cells to hybridize to the RNA. Then there is a series of amplification steps that allow us to image three probes on a confocal microscope, cleave the fluorophore tag off, and then detect the next set of targets with the specified fluorophore tag. Theoretically, we can image up to 12 genes per sample all on the same section. This means we can get a profound amount of information on just one tissue section.

This makes RNAscope a powerful tool to visualize novel cell populations and the gene-specific probes allow us to see cell-to-cell heterogeneity. With this, you're able to see the difference in gene expression, even in cells that are right next to each other, which is difficult to detect with standard protein staining.

JS: In the past, it's been shown that the adaptive immune response is turned on in response to tendon injury, but the innate immune response hasnt been well studied before. In one study, we are focusing on this innate immune response, outlining possible mechanisms as to how the different cells are talking to each other within this response. We use healthy mice and perform Achilles tendon tear-and-repair surgeries. Over different time points, we monitor the various states of the immune response around the tendon, by collecting both tendon samples and samples from the lymph nodes that drain the tendons. We then analyze the different markers that are expressed at different times during the innate immune response using genetic and protein analysis, plus flow cytometry, to put together a picture of what happens following tendon injury.

JS: There is the potential to play with gene manipulation in future experiments. It could be that some of the cell types in Achilles tendons have positive effects in the injury process, but others might have negative effects. So, we could try to manipulate in both directions to redirect these cells during the injury course either by deleting or boosting the expression of a gene within the tendon. Additionally, our scRNAseq work thus far has been in mice, so it is important to also analyze the transcriptomes of human tendon cells to better understand how they may respond to injuries.

Explore more of the latest applications ofRNAscope technology:

Do you use Advanced Cell Diagnostics products in your lab? Write a review today for your chance to win a $400 Amazon gift card>>

View post:
Musculoskeletal injury: New cellular targets to assist the tendon repair process - SelectScience

Arctoris Ltd Strengthens Senior Team to Continue the Development of its On-Demand Drug Discovery Services – BioSpace

OXFORD, UK 13th November 2019 Arctoris Ltd, a fully automated drug discovery platform for virtual and traditional biotechnology companies, pharmaceutical corporations and academia, today announced the appointment of Professor John Mattick AO FAA FTSE FAHMS FRSN HonFRCPA GAICD as a Member of the Board of Directors, and Daniel Thomas PhD LCGI as Head of Discovery Biology. Arctoris is strengthening its senior team while the company is growing its commercial operations and service portfolio to enable more customers to rapidly reach their next drug discovery milestone.

Martin-Immanuel Bittner MD DPhil, Chief Executive Officer and Co-Founder of Arctoris, commented: I am delighted to welcome Professor Mattick and Daniel Thomas to our senior team. Their depth of expertise and experience will enable us to further develop our revolutionary drug discovery platform for customers and partners around the world. I look forward to working closely with them to enhance our novel capabilities and services.

As the former Chief Executive Officer of Genomics England and the former Executive Director of the Garvan Institute of Medical Research in Sydney, Professor Mattick is a leading expert on how the power of technological advances can transform the discovery and delivery of new therapeutic approaches. He has published over 300 research articles and reviews, which have been cited over 64,000 times, and has received numerous awards for his contributions to the field of molecular biology. With this significant scientific and strategic insight, his appointment to the board of Arctoris will support the development of the companys pre-optimised and fully validated research and development processes.

"I am delighted to join the Board of Directors of Arctoris. Its fully automated platform allows access to a wide range of methods and technologies, new levels of reproducibility, and exceptional data capture and integration capabilities that are unavailable elsewhere, which will transform biomedical research and drug discovery," said Professor John Mattick, Member of the Board of Directors, Arctoris.

Daniel Thomas, Head of Discovery Biology, Arctoris, added: Generating high-quality, reproducible data while balancing cost, scale and complexity is a fundamental challenge faced by the global drug discovery community today. Having experienced these pressures first-hand, I am committed to helping our customers and partners by configuring, running and monitoring experiments in real-time through Arctoris fully automated drug discovery platform.

Daniel Thomas joins Arctoris with more than 20 years experience working in early-stage small molecule drug discovery with GlaxoSmithKline. He brings with him an extensive theoretical and practical knowledge of assay development and mechanistic profiling together with an accomplished leadership track record developing trans-national matrix research teams. He also has significant experience in the implementation of transformative technologies and the delivery of key mechanistic data across a broad range of therapeutic areas.

For more information on how Arctoris is transforming drug discovery, please visit http://www.arctoris.com.

About Arctoris Ltd

Arctoris Ltd is an Oxford-based research company that is revolutionising drug discovery for virtual and traditional biotechnology companies, pharmaceutical corporations and academia. Arctoris has established the world's first fully automated drug discovery platform, offering pre-optimised and fully validated R&D processes for its partners and customers globally. Accessible remotely, the platform provides on-demand access to a wide range of biochemical, cell biology and molecular biology assays conducted by robotics, enabling rapid, informed decision-making in basic biology, target validation, toxicology and phenotypic screening. These assay capabilities are accessed using a powerful online portal that streamlines experiment planning, ordering, tracking and data analysis. Thanks to the Arctoris platform, customers can rapidly, accurately and cost-effectively perform their research and advance their drug discovery programmes.

More here:
Arctoris Ltd Strengthens Senior Team to Continue the Development of its On-Demand Drug Discovery Services - BioSpace

Global Live Cell Imaging Market : Industry Analysis and Forecast (2018-2026) – The Market Expedition

Global Live Cell Imaging Marketwas valued at US$ 1.5Bn in 2017 and is expected to reach US$ XX Bn by 2026, at a CAGR of XX% during a forecast period.

Global live cell imaging market is majorly influenced by the growing incidence of chronic diseases and the consistent need for swift diagnostic techniques. Availability of exact and accurate live cell imaging techniques also help in accelerating drug discovery processes and other biotechnology research.

Growth in expenditure and funding for the development of advanced cell imaging is further expected to boost the live cell imaging market in the future. It is also observed that collaborations of market players with research and academic institutions to develop and introduce breakthrough products have recently gained pace. Small players are being increasingly acquired by large incumbents for procurement of breakthrough technologies to secure their stronghold in the market.

Fluorescence recovery after photobleaching is the most commonly used technique for live cell imaging. The technique has found rapid adoption in genetic targeting peptides and appropriately offers a determination of spatial proximity at a protein level that is not possible through fluorescence microscopy. Rapid introduction of FRET systems with an insight to offer better cell imaging techniques will so determine the major market trends.

Cell biology segment is leading the application owing to the increasing number of researchers working on molecular interaction networks. Innovations, for instance, filter techniques and advanced illumination devices further enable the procedure. Cell biologists use live cell imaging to understand the fundamental cellular structures and their interaction on the tissue level. Benefits are clarity of structural components and spatial heterogeneity of a cell offered by live cell imaging are expected to further boost the market.

North America dominated by market share in 2017 closely followed by Europe. Substantial investments and funding available for research in this field is the key driver in the North America region. The growing adoption of live cell imaging by research laboratories and academic institutions, particularly in the U.S. is one of the major factors driving market growth in this region.

One of the recent acquisition in the industry was done in March 2017 by Sartorius who agreed to buy Essen Bioscience in a transaction worth US$ 320Mn. Essen was energetic in developing equipment, reagents, and software.

Nikon Corporation Company has strategic partnerships with research groups to gain professional expertise. They have established imaging centers and offer microscopes, automation, software, and support to various institutes, for instance, Harvard Medical School.

The objective of the report is to present a comprehensive assessment of the market and contains thoughtful insights, facts, historical data, industry-validated market data and projections with a suitable set of assumptions and methodology. The report also helps in understanding Global Live Cell Imaging Market dynamics, structure by identifying and analyzing the market segments and project the global market size.

Further, the report also focuses on the competitive analysis of key players by product, price, financial position, product portfolio, growth strategies, and regional presence. The report also provides PEST analysis, PORTERs analysis, SWOT analysis to address the question of shareholders to prioritizing the efforts and investment in the near future to the emerging segment in the Global Live Cell Imaging Market.

DO INQUIRY BEFORE PURCHASING REPORT HERE:https://www.maximizemarketresearch.com/inquiry-before-buying/28816

Scope of Global Live Cell Imaging Market

Global Live Cell Imaging Market, by Product & Service

Instruments Consumables Software ServicesGlobal Live Cell Imaging Market, by Application

Cell Biology Stem Cells Developmental Biology Drug DiscoverGlobal Live Cell Imaging Market, by End User

Pharmaceutical & Biotechnology Companies Academic & Research Institutes Contract Research OrganizationsGlobal Live Cell Imaging Market, by Region

North America Europe Asia Pacific Middle East and Africa South AmericaKey players operating in Global Live Cell Imaging Market

Danaher Corporation Carl Zeiss AG Nikon Corporation Olympus Corporation Perkinelmer GE Healthcare Bruker Thermo Fisher Scientific Sartorius AG Biotek Instruments Etaluma Cytosmart Technologies Nanoentek

MAJOR TOC OF THE REPORT

Chapter One: Live Cell Imaging Market Overview

Chapter Two: Manufacturers Profiles

Chapter Three: Global Live Cell Imaging Market Competition, by Players

Chapter Four: Global Live Cell Imaging Market Size by Regions

Chapter Five: North America Live Cell Imaging Revenue by Countries

Chapter Six: Europe Live Cell Imaging Revenue by Countries

Chapter Seven: Asia-Pacific Live Cell Imaging Revenue by Countries

Chapter Eight: South America Live Cell Imaging Revenue by Countries

Chapter Nine: Middle East and Africa Revenue Live Cell Imaging by Countries

Chapter Ten: Global Live Cell Imaging Market Segment by Type

Chapter Eleven: Global Live Cell Imaging Market Segment by Application

Chapter Twelve: Global Live Cell Imaging Market Size Forecast (2019-2026)

Browse Full Report with Facts and Figures of Live Cell Imaging Market Report at:https://www.maximizemarketresearch.com/market-report/global-live-cell-imaging-market/28816/

About Us:

Maximize Market Research provides B2B and B2C market research on 20,000 high growth emerging technologies & opportunities in Chemical, Healthcare, Pharmaceuticals, Electronics & Communications, Internet of Things, Food and Beverages, Aerospace and Defense and other manufacturing sectors.

Contact info:

Name: Lumawant Godage

Organization: MAXIMIZE MARKET RESEARCH PVT. LTD.

Email:sales@maximizemarketresearch.com

Contact: +919607065656/ +919607195908

Website: http://www.maximizemarketresearch.com

Go here to read the rest:
Global Live Cell Imaging Market : Industry Analysis and Forecast (2018-2026) - The Market Expedition

Is sexual orientation genetic? Yes and no, an extensive study finds – Haaretz

The international group of scientists knew they were setting out to investigate an explosive subject: the hereditary basis of human same-sex behavior. Even so, the members of the prestigious Broad Institute in Cambridge, Massachusetts, may not have anticipated the magnitude of the public furor that erupted when they published their study, which identified several markers in certain genetic loci in the human genome related to same-sex sexual experience. The storm of reactions ranged from those who welcomed something seen as heralding significant progress in the field, to others who maintained that it would have been better if the scientists hadnt published anything.

The research results were published in full in the journal Science, at the end of August. This was the most extensive study of its kind ever conducted (there were about a half a million subjects), in which use was made of the GWAS (genome-wide association studies) method to analyze genetic big data. The researchers discovered five genetic markers (frequent, minor changes in the DNA segments of certain chromosomes) that appeared repeatedly among individuals who reported having had same-sex sexual experiences. Slight and frequent genetic variations were identified in both women and men, two others in men only and one more only in women.

No less important in the study, entitled Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior, is the scientists claim that a large number of genetic markers, perhaps even thousands, might operate simultaneously together although each in and of itself is of minuscule weight and influence ones same-sex orientation. Moreover, their study led the researchers to the conclusion that human genetics can explain up to 32 percent of same-sex sexual behavior.

What is at issue here, however, is not what the study contains but what it does not contain. As Melinda Mills, a sociology professor at Oxford, writes in the same issue of Science, there is no way that the researchers findings can be used as a tool to accurately predict same-sex behavior. Specifically, the fact that genetics can explain up to 32 percent of the fact that someone is gay or lesbian, does not mean that sexual identity is determined primarily by environmental factors not to mention social ones. This story is far more complex and has not yet been fully deciphered. Mills views are shared by Andrea Ganna, one of the chief authors of the new study.

What we basically do is statistical associations between having and not having these genetic markers and having or not having same-sex behavior, Ganna told Haaretz in a phone interview. Because we had this uniquely large study, he continued, which allowed us to have robust conclusions, and because we had the technology to measure the genetic markers of so many individuals, the time was right to confirm something that we expected: There is no one specific gay gene. Instead there are a lot of relatively common genetic markers, genetic mutations, that have a small effect on same-sex behavior.

At the same time, adds Ganna, a geneticist at Harvard Medical School and at Finlands Institute of Molecular Medicine, Not everyone is interpreting the fact that theres no single gay gene in the right way.

Gannas concern is shared by scientists around the world. Theyre worried that the researchers findings will fuel prejudice and discrimination against the LGBTQ community, and even spark calls for genetic engineering and genetic diagnosis among its members. So serious are these apprehensions that some have wondered whether the study would not do more harm than good.

As a queer person and a geneticist, I struggle to understand the motivations behind a genome-wide association study for non-heterosexual behavior, Joseph Vitti, a postdoctoral researcher at the Broad Institute, wrote on its blog, adding, I have yet to see a compelling argument that the potential benefits of this study outweigh its potential harms [T]he results presented not only oversimplify the question of biological causality, but also threaten direct damage by perpetuating the stereotype of LGBTQIA+ people as imprudent, while also likening same-sex attraction to a medical or psychological disorder.

Moreover, a website called The American Conservative posted an article entitled Not Born This Way After All? which wondered, skeptically: If the study proves that homosexuality is related to the environment, above all, and not to heredity why isnt it right and proper, in scientific terms, to allow those who so desire to undergo treatment in order to reduce their same-sex desires, which have now been shown not to be genetic?

That, however, is a simplistic reading of the studys findings. According to Michael Bailey, a professor of psychology at Northwestern University in Illinois, who was not involved in the study but has been conducting research on sexual orientation for 30 years, Its very important to understand that environment does not simply refer to social surroundings, like what your parents teach you and what kids you know, trauma and so on theres also a biological environment that begins right after conception.

Three years ago, Bailey and several colleagues published a survey of all the studies and professional literature in the field. The best studies have shown that genes are probably important but not overwhelmingly important, he tells Haaretz. We estimated in our 2016 review that 30 percent of the variation in sexual orientation is due to genetic variations. It may be this finding that led him to conclude that it is the biological environment that is mostly important. Bailey is convinced that men are born with their sexual orientation and that it is not subsequently acquired at any stage. He notes that there are several cases, I think there are seven throughout the professional literature, in which a baby boy was changed into a girl for medical reasons and was raised as a girl. When you follow these individuals through adulthood, you find that they are attracted to women and not to men.

In Baileys view, the best example of how biological-environmental factors can influence sexual orientation is the fraternal birth order effect. The phenomenon, whose existence is well established, he says, shows that the more older brothers a man has, the more likely he is to be homosexual. In practice, every older biological brother increases the probability that the youngest brother will be gay by about 33 percent. Thus, if the probability that a man with no older brothers will be gay is 2 percent, one older brother will increase the probability to 2.6 percent, and a second, third and fourth brother to 3.5 percent, 4.6 percent and 6 percent, respectively. Whats not yet clear is the reason for this.

In my mind, Bailey suggests, the best hypothesis as to why this happens is that a mothers immune system becomes increasingly active and produces antibodies against male proteins over successive births.

Fingers and hands

Behind this hypothesis is one of the most influential figures in the field, American-Canadian clinical psychologist and sexologist Ray Milton Blanchard. He was also among those who linked the fraternal birth order effect to another phenomenon of interest to scientists: the connection between being left-handed and having a same-sex orientation. The most extensive study in this regard was conducted in 2000, incorporating 20 different studies involving 7,000 gay male and female subjects and 16,000 heterosexual ones. It was found that gay men were 34 percent more likely to be left-handed. The situation was more extreme among lesbians: They were seen to have a 91 percent greater chance than straight women of writing with their left hand.

As a result, six years later, a research team led by Blanchard argued that the fraternal birth-order effect is relevant only among right-handed men. The reason is that, in any case, left-handed men who dont have older brothers already have a greater likelihood of being gay than right-handed men with such siblings.

A persons dominant hand turns out to be significant in another sense as well. An article published two years ago (about a study in which all the subjects had taken part in a gay pride parade in Toronto) found a connection between that hand and the gay persons role in bed: that is, the proportion of left-handed gays who defined their sexual behavior as passive or versatile (i.e., sometimes passive, sometimes not) was significantly higher than among those who described themselves as actives who clearly tended to be right-handed.

In research conducted over the years on the subject of the connection between sexual orientation and other attributes of the body, the hand holds a place of honor. But while Blanchard developed his theory on the basis of the whole hand, sometimes a few fingers are also enough: two, to be exact. In his 1998 study, British biologist John Manning confirmed a relatively old hypothesis, first put forward in Germany almost 150 years ago. Its gist is that the proportion between the length of index and ring fingers is, typically, different in men and women. Manning found that this phenomenon was detectable as early as age 2, which led to the observation that its source lies in the differences in testosterone and estrogen levels that already exist in the womb hereinafter: a biological-environmental factor.

Manning did not emphasize the element of sexual orientation in the two books and over 60 articles he wrote on this subject, but in the two decades that have elapsed since his study, more than 1,400 papers have been written on the ratio between the length of the second and fourth fingers (known as 2D:4D) and the connection between it and the level of risk of contracting certain diseases, as well as personality traits, cognitive and athletic abilities and sexual orientation.

One such study, published in 2010, maintained that straight and lesbian women are differentiated by the ratio between the length of the index and ring fingers, with lesbians tending to show a more masculine ratio i.e., closer to the average difference between the length of the fingers, among men. However, no such differences were found between gay and straight men.

Last year a team of scientists led by a British psychologist measured the fingers of 18 pairs of identical female twins, one lesbian, the other straight. Overall, differences in proportion were documented only in the lesbians and only in their left hand, and were comparable to the situation among men. This fact, the team concluded, could indicate a heightened exposure to testosterone in the womb but their study was based on a very small sample and drew much criticism. The critics charged that the conclusion was based on an overly simple means of measurement: of the way only two variables impacted each other. And, they added to bolster their argument, findings of studies involving those fingers have not been replicated in scientific experiments.

The field of gay science has been on a roll in recent years, but has a far longer history. Its modern phase dates to the early 1990s, when scientists began to publish increasing numbers of studies arguing that sexual orientation has a biological component. A leading scientist in this field is British-American neurobiologist Simon LeVay, who in 1990 performed autopsies on the bodies of 41 people: 19 gay men, 16 straight men and nine women. He discovered that the brain cells known as INAH-3 among the deceased gay men were relatively small, and closer in size to those of women than to heterosexual males.

In 1991, LeVay told Haaretz in a phone conversation, I published a study that got a lot of media attention, related to my observation that there was a region inside the hypothalamus that was different in size between men and women, and also between gay and straight men My additional finding was the difference in size between gay and straight men in this region inside the hypothalamus that is involved in the regulation of sexual behavior.

Adds LeVay, My general feeling is that there are certainly strong biological influences on peoples sexual orientation, but we cant say everything is genetic.

In the spirit of the period, and in light of the AIDS epidemic at the time, LeVay tried to be as cautious as possible about his conclusions. Its important to stress what I didnt find, he said in an interview to Discover magazine, in 1994. I did not prove that homosexuality is genetic, or find a genetic cause for being gay. I didnt show that gay men are born that way, [which is] the most common mistake people make in interpreting my work.

Three decades after publishing his study, he still thinks media coverage is doing an injustice to research even if its not his. Ive seen some headlines saying, basically, that this study [i.e., that of Ganna and his associates] shows its not genetic, or that are no gay genes, or something like that; and, of course, its not what the study shows at all.

Truly gay

In recent decades, scientific research (on men and women alike) in this realm has relied on an additional field: molecular genetics. The pioneer is geneticist Dean Hamer, who in 1993 conducted the first study of its kind.

We noticed that being gay, for males, tended to pass down through the mothers side of the family, he told Haaretz. And that is characteristic in genetics of something on the X chromosome because males get their X chromosomes from their moms That led us to look in families where there were gay brothers, to see if they shared anything on the X chromosome.

And thus, recalls Hamer, he and his team discovered Xq28: a genetic marker that plays a part in determining whether a person will be heterosexual or gay. He emphasizes that this is a factor, its not the factor and actually, overall, its not even the most important factor. He adds, Whats good about genetic studies, is that you know that whatever you find is a causal factor, because of course people are born with their genes, and its not something that changes over time.

LeVay, he explains, is looking directly at the brain, and were looking at what we think is building the brain and genes. Yet, its very difficult to know whether one was born with a brain like that, or whether that brain developed that way because of your behavior the causality is rather unknown.

At the same time, Hamer adds, That doesnt mean there arent specific pathways, because there has to be some sort of a pathway in the brain that controls sexual orientation. We know, for example, that the reason you become a male or a female is very simple: If you have a certain gene on the Y chromosome, you will produce male hormones, and if you have those you make a penis and scrotum and you become male. Accordingly, Theres probably some pathway in the brain that does same thing for sexual orientation, but were not going to discover it from genetics The answer will probably emerge from some sort of very sophisticated brain and developmental studies.

For 35 years, Hamer accumulated experience as a scientist at the National Institutes of Health in Bethesda, Maryland. That period is behind him. He doffed the white coat and now lives in Hawaii, where he makes films. But even if hes no longer occupied with research, it still occupies him.

Hamer: Back in the 1990s, I, along with all the scientists involved, believed that if we did good genetic studies wed find the important genes. For example, well find a gene that is responsible for the production of testosterone, and if its functioning was low, it would be possible to say that this is the cause of homosexuality in a particular person. But it turns out that it doesnt work that way. For every mental trait that has been studied everything you can imagine in the brain, for every single trait, theres a [vast number of] genes not to mention a host of complex societal and environmental factors.

For his part, Hamer has much praise for the Broad Institute study: The new GWAS study is really important, because for the very first time they used a huge sample and they mapped every inch of the genome. And this has never been done before. All the other studies were much smaller, or used many fewer genetic markers. But he also demurs: Whats very important is to look at what they actually analyzed. They didnt analyze people who were gay or lesbian, but anyone who had one single same-sex experience, which is quite different... They were measuring something more like openness to sexual experimentation.

As Hamer sees it, If you look for those five markers, or even just the three strongest markers, they are not necessarily found in people who actually identify as gay or lesbian. If you take people who are gay, like me, and look for those markers theyre not significantly there.

Hamer thinks that the whole field is lagging behind because of insufficient research, owing to the stigmas that plague the subject. I dont think sexuality is any more complicated than many other areas of human personality and individual differences, he observes, noting, We formally established that male sexuality is something that is deeply ingrained in people, its not any sort of choice really. It starts really early in life, and it has a major biological component to it. But, how it works? What the biological component is? Were completely unaware and dont know anything, and we barely know more than we did 25 years ago, or in the 1940s, when Kinsey did his work, to be honest.

Hamer was referring to biologist Alfred Kinsey, who in 1948 stunned the American public with his book, Sexual Behavior in the Human Male, which addressed previously taboo subjects, and challenged the traditional beliefs and existing knowledge about human sexuality. Kinsey had conducted a survey of men, which found that 37 percent of his subjects said they had undergone a homosexual experience of some kind, and 10 percent said they had been exclusively gay for three years of their adult life a statistic which to this day is generally said to represent the proportion of people engaging in same-sex behavior.

At the same time, subsequent studies reveal that the percentage of people who define themselves as exclusively homosexual is far lower, though it fluctuates from one article to the next. For example, a 2011 survey of nine different studies on the subject revealed that approximately 3.5 percent of Americans identify themselves as gays, lesbians or bisexuals. A poll involving 1,000 Jewish Israelis in 2012 found that 11.3 percent of the male respondents and 15.2 percent of the female ones said they felt an attraction to members of the same sex. However, only 8.2 percent of the men categorized themselves as gay or bisexual, while 4.8 percent of the women said they were lesbian or bisexual.

For his part, Ganna, of the Broad Institute, understands some of the criticism of his research. What we studied is not related directly to the biology, but to extended environmental factors related to it. Its not about our sample size once you have a lot of individuals, you can capture very small effects. But are these directly influencing same-sex behavior, or other things related to this topic? As a medical example, think about a study that looks for associations between genetic markers and lung cancer. In that example, what we found are genetic variants regarding how much you smoke, which is related to lung cancer.

One of the lessons, and one of the most interesting points arising from the study has to do, says Ganna, with the mode of measurement that had been in use since 1948, when Kinseys scale ranked individuals as being between 0 (totally heterosexual) and 6 (totally homosexual).

Ganna: Basically, the tendency is to locate individuals on a continuum. You can supposedly be anywhere between 100 percent heterosexual to 100 percent homosexual, which implies that the more youre homosexual, the less youre heterosexual, and vice versa. We show that this assumption actually doesnt hold water: When we look at the genetic data, its not that straightforward, theres no simple continuum of sexuality.

So, actually, you are refuting the Kinsey scale?

Ganna: Thats exactly one of our conclusions. What were now doing is, rather than asking people to put themselves on a scale somewhere between being exclusively heterosexual or exclusively homosexual, we ask them how much theyre attracted to men and women. You could be attracted to either of them, very attracted to both of them or to one more than the other. And that information will be crossmatched with genetic markers.

In the final analysis, he adds, We showed that this is just another natural human variation. Sexual orientation, similar to many other behavioral traits, is complicated and is composed of different factors. The interesting thing is how genetics and environment work together. If you think about how much more prevalent same-sex behavior has become lately, people engage in it more than in the past. And thats clearly not because our genetics are changing. Its because of the environment, because society is becoming more open and laws are changing.

Further research should focus on the relationship between environmental factors and genetics, Ganna says, and on how they interact. Its somewhat misleading to think of nature and nurture as separate aspects; they both contribute. So, it would be wrong to say that you can use only DNA to predict if someone will engage in same-sex behavior, but you also cant say its simply a [matter of] choice.

In summary, he says, I think that the more people who will understand that there are genetic and environmental components to sexual behavior, the better and this is a message that goes beyond just sexuality.

Choice and lifestyle

However, the relationship between science and the environment, and particularly the people living in it, is a complicated one. The subject definitely should be studied, but the social aspect of it is problematic, says LeVay, the neurobiologist. I am gay myself, and I feel strongly that gay people should be valued and accepted into society, regardless of what caused their sexual orientation. I dont think its vital for gay liberation to prove that gay people cant help but be gay there are plenty of other reasons [for accepting them], including basic human rights.

At the same time, he adds, this issue is socially relevant, because of traditional notions that see same-sex relations as a choice, a lifestyle or sinful behavior.

In recent years, there have been many studies showing that peoples attitudes toward homosexuality are closely tied to their beliefs about what makes people gay, says LeVay, citing a survey that showed there was a high probability that people who think homosexuality is a choice will object to a gay person being their childrens teacher which in a way might make sense, he adds: If you think being gay is something infectious, socially contagious, and you didnt want your kid to be gay, then you wouldnt want their teacher to be gay ... It follows that demonstrating that biological factors are involved, helps counter those ideas. Still, Im a bit ambivalent about the use of this type of research as some sort of a political weapon in the struggle for gay rights.

The Broad Institute study contains a reminder of the problems and stigmas that still exist with regard to the LGBTQ community. One of the parameters it considers are genetic correlations between genes that are ascribed to homosexuality, and certain psychological problems.

Bailey, the psychologist: One thing that was perceived as controversial, was to look for and find a genetic overlap between homosexual sex genes and genes associated with depression. Its not the same as saying all people who engage in homosexual sex are depressed for genetic reasons, but its also not something that can be easily ignored. There are assumptions that the higher rates of depression among gay men and lesbians is due to the way they are mistreated by society, but the evidence for that is not so overwhelming. There is also the fact, for example, that you have as high a rate of depression among homosexual men in the Netherlands, which is very tolerant, as you have in some less tolerant places, like the United States.

Ganna, for his part, tries to soften that criticism: Even if we see genetic overlap, or correlation, it is not set in stone that weve found a biological mechanism that causes depression and same-sex behavior, he says. There are many explanations for why this one genetic marker is associated with both things. But finding these correlations help us study human traits in general.

In the meantime, there is a price to be paid for conducting research in this realm, which all those involved must be aware of. Reminders of this abound, and are almost routine. In some cases whats at stake is not even a groundbreaking study or one of tremendous scientific importance. In 2017, for example, two researchers from Stanford published an article stating that gay men are predicted to have smaller jaws and chins, slimmer eyebrows, longer noses, and larger foreheads; the opposite should be true for lesbians. In the next stage, they created a facial-recognition program with the aid of more than 14,000 images taken from a singles site of straights and LGBTQs. The program was able to distinguish between gays and lesbians and heterosexuals with an accuracy of 81 percent for men and 71 percent for women, in contrast to an average rate of successful human guesses of 61 percent and 54 percent, respectively. Even though the program achieved relatively impressive results, the study as such drew widespread criticism not unusual for researchers engaged in such studies.

The Stanford gays identification program may be an extreme example, in this respect, but its also a byproduct of the considerable surge in studies in this field, a trend that began in the early 1990s. Together with the scientific community, media interest in the subject of same-sex orientation and its causes has contributed substantially to transmitting messages and shaping public opinion.

In the United States, this can be seen in a series of polls conducted by Gallup, Inc. The first one, conducted in 1977, found that only 13 percent of the respondents believed that homosexuality is an innate tendency, while 56 percent attributed it to environmental factors. This approach remained largely constant until the period between 1989 and 1996, when the rate of those supporting the innate thesis leaped from 19 percent to 31 percent; by 2001, it stood at 40 percent. Almost a decade and a half later, the annual poll produced, for the first time, a larger proportion who agreed with the innate argument. The latest survey, from the end of last year, showed this trend continuing: More than half of the American public believes that gay people are born with their sexual orientation, whereas only 30 percent attribute it to environmental factors (10 percent said both factors play a part, 4 percent cited other factors and 6 percent said they werent sure).

Changes in the perceptions of the origins of sexual orientation are having a pronounced effect on the struggle LGBTQ individuals are waging for equal rights. The latest Gallup poll shows that an absolutely majority (88 percent) of those who believe that homosexuality is an innate trait also support legitimizing same-sex marriages. In contrast, most of those who see this orientation as being environmentally driven (61 percent) are against.

When it comes to public opinion, which is very important, the born this way idea has been really resonant and has had a very positive impact on society, Hamer maintains. Public opinion polls asked people whether they think [gays] were born this way or not, and we know that believing that homosexuality is innate correlates with having positive feelings toward gay rights. Overall, its been important in educating the public about who we are, as gay people.

Such messages are reaching Israel as well. A poll conducted by the Dialog Institute for Haaretz at the end of 2013 found that 70 percent of those questioned favored full rights for same-sex couples, while 64 percent specifically backed their right to surrogacy. However, two polls conducted in the wake of the surrogacy law protest in July 2018 presented slightly lower numbers: About 57 percent of respondents expressed support for the right of same-sex male couples to surrogacy.

These polls did not ask Israelis whether they believe the origin of same-sex orientation is innate or environmental. If you ask Bailey, though, that doesnt really matter.

Ive gone to great lengths to try to persuade people not to base equal rights for gay people on the causal hypothesis, he says. Its a terrible idea to say gay people should have equal rights because they were born that way. Its terrible in part because some criminals might be born that way, and you dont want to them to have the same rights. Being gay doesnt harm anybody, other than people who are close-minded and easily offended. Preventing people from expressing their homosexuality is quite destructive for them. Thats true whether gay people are born that way or not.

Continue reading here:
Is sexual orientation genetic? Yes and no, an extensive study finds - Haaretz

Waiting For The Sign that Protections Are Needed For Genetic Data? Here It Is. – Forbes

I just attended theNational Society of Genetic Counselors Annual Meetingin Salt Lake City, UT where I met some of the brightest minds in genetics, heard about mind-bending new technologies, and was reminded of the many ways that genetic counseling and testing is improving health, transforming lives, and driving precision medicine forward.

With that bright promise freshly in mind, several recent stories have cast a stark reminder of the ways genetic testing can, andis,being used nefariously.I published an article on this topicjust a few short weeks ago and didnt foresee that it would need a part II so soon. Consider the following:

The Trump administration already announced that they would require DNA samples from asylum-seekers at the Mexican border for rapid DNA testing to confirm family relationships.In a move called transparently xenophobic in its intention, the Trump Administration now plans to collect DNA from individuals in federal immigration custody and add those samples to the national FBI crime database.

MIAMI : A judges gavel rests on top of a desk (Photo by Joe Raedle/Getty Images)

A Judge in the Floridas Ninth Judicial Circuit Court signed a warrant allowing a detective to successfully obtain a warrant to search GEDMatchs genetic database,even for users who opted out of appearing in police search results.This decision brings into question whether larger databases, like those of 23andMe and Ancestry, are subject to the same sort of warrants, despite their privacy policies.23andMe does not believe that this decision impacts them, but that remains to be seen.However, it is possible that any privacy policyis only as strong as a police departments ability to get a willing judge to sign a search warrant.

NEW YORK, NY - JUNE 20: (Photo by Santiago Felipe/Getty Images)

A recent genetic study on homosexualityraised eyebrows for many reasons, including that it appeared that homosexuality was being positioned as a condition or worse yet a disease to study and understand.An informativeDNA Exchange blogpost by certified genetic counselor Austin McKittrickeloquently outlined the issues, including that the study utilized data from the UK Biobank and 23andMe.Consumers consenting to 23andMe research studies may falsely believe that their data are being used only to further critical health care problems, like finding a treatment for Parkinsons disease, rather than for research that could potentially lead to discrimination or stigmatization of groups of people.Within days of this research being published an app called GenePlaza was developedthat, for about $5, could tell you how gay you are.Can you imagine this app being used at a middle school slumber party, with results posted to social media?But worse yet, the apps developer is based in Uganda,a country that announced plans that it would make homosexuality punishable by the death penalty.

Now, for just a moment, think about these three developments in unison.Our government is requiring DNA collection for immigrants in custody and those samples will enter our federal crime databases.Large databases, even for consumer entertainment, are subject to search warrant.Genetic data are being collected and used to make associations (accurate, or not) to a trait that may be punishable by death in some countries.

If we have been waiting for a sign thatwe need federal, or international, protections for genetic data and how it can be used, we now have that sign.

Read the original post:
Waiting For The Sign that Protections Are Needed For Genetic Data? Here It Is. - Forbes