Every year, BioSpace analyzes the biotech industry, looking for the hot new biotech startups to watch. We then produce the NextGen Bio Class of, twenty companies ranked based on several categories, including Finance, Collaborations, Pipeline, and Innovation. The companies were typically launched no more than 18 months before the list was created.

We thought it would be insightful to look back at our previous lists to see where some of those companies are today. Heres a look at the top three companies from the Top 20 Life Science Startups to Watch in 2018.

#1. BlueRock Therapeutics. Founded in 2016, BlueRock was #1 on our list of companies to watch in 2018. With facilities in Ontario, Canada; Cambridge, Massachusetts; and New York, New York, BlueRock launched in December 2016 with a $225 million Series A financing led by Bayer AG and Versant Ventures. The company focuses on cell therapies to regenerate heart muscle in patients who have had a heart attack or chronic heart failure, as well as therapies for patients with Parkinsons disease.

In October 2017, BlueRock and Seattle-based Universal Cells entered into a collaboration and license deal to create induced pluripotent stem (iPS) cell lines that can be used in the manufacture of allogeneic cellular therapies. Shortly afterwards, the company established its corporate headquarters in Cambridge, and in April 2018, established a research-and-development hub in New York City, as well as formalizing a sponsored research collaboration with the Center for Stem Cell Biology at Memorial Sloan Kettering (MSK) Cancer Center. The collaboration focuses on translating Ketterings expertise in creating multiple types of authentic neural cells from stem cells to address diseases of the central and peripheral nervous system. BlueRock also received $1 million from the State of New York and Empire State Development under its economic development initiatives program.

In April 2019, BlueRock partnered with Editas Medicine (which was on BioSpaces NextGen Bio Class of 2015 list) to combine their genome editing and cell therapy technologies to focus on novel engineered cell medicines. Part of the deal was to collaborate on creating novel, allogeneic pluripotent cell lines using a combination of Editas CRISPR genome editing technology and BlueRocks iPSC platform.

And finally, in August 2019, Bayer AG acquired BlueRock for the remaining stake in the company for about $240 million in cash and an additional $360 million in pre-defined development milestones.

#2. Prelude Fertility. Prelude Fertility is a bit of an outlier from the typical BioSpace NextGen company, because it isnt quite a biopharma company. It is a life sciences company whose business model is aimed at in vitro fertilization and egg freezing. It was founded with a $200 million investment by entrepreneur Martin Varsavsky. The investment was in the largest in vitro fertilization clinic in the Southeast, Reproductive Biology Associates of Atlanta, and its affiliate, My Egg Bank, the largest frozen donor egg bank in the U.S.

Since then it has expanded in various parts of the country, including adding San Francisco-based Pacific Fertility Center (PFC) to its network in September 25, 2017; partnering with Houston Fertility Institute and acquiring Vivere Health; partnering with the Advanced Fertility Center of Chicago; and in October 2018, partnered with NYU Langone Health.

In March 2019, Prelude merged with Inception Fertility to establish the Prelude Network as the fastest-growing network of fertility clinics and largest provider of comprehensive fertility services in the U.S. Inception is acting as the parent company, with the Prelude Network, both having board representatives from the previous organizations.

#3. Relay Therapeutics. Ranking #3 on our list for 2018, Relay Therapeutics launched in September 2016 with a $57 million Series A financing led by Third Rock Ventures with participation form D.E. Shaw Research. On December 14, 2017, it closed on a Series B round worth $63 million, led by BVF Partners, with new investors GV (formerly Google Ventures), Casdin Capital, EcoR1 Capital and Section 32.

The company focuses on the relationship between protein motion and function. It merges computational power with structural biology, biophysics, chemistry and biology. In December 2018, the company completed a $400 million Series C financing. It was led by the SoftBank Vision fund and included additional new investors, Foresite Capital, Perceptive Advisors and Tavistock Group. Existing investors also participated.

The company announced at the time it planned to use the funds to accelerate the implementation of its long-term strategy, expanding its discovery efforts, advancing existing programs into the clinic and improving its platform.

Cell Biology

Mitochondrial Division in the Cell Is Common in Primitive and Advanced Species on Earth – Science Times

January 7, 2020 medical

(Photo : inteng-storage.s3.amazonaws.com)There is evidence that points out that mitochondria division shared by both primitive and advanced species living today.

All living things are born out from a cell, and thus began the hot pools where the cauldrons of creation cooked up the first batches of life. It was like a cook in the kitchen throwing in everything needed to complete the first cell. From this simple amoeba, the process ofmitochondrial divisionthat lives on to this day had started. All creature, living or extinct, primitive and advanced, have inherited this cellular mechanism from the first one-celled creature ever created.

The question about how everything ties up to the living "multi-cell scientist" or the "single-celled organisms"gave birth to the concept that everything is related to the simplest "amoeba" or "protozoan". This evolutionary process has been passed and tossed all over, resulting in the belief that it might be the same for other exo-species on other planets.

Tying up the loose ends for lower to higher animals is the"endosymbiotic theory",the keyword is endo- which is inside and symbiotic which refers to the connection to something. With the endosymbiotic theory, scientists state that advanced multi-cell animal, including homo sapiens, are "eukaryotes", while single-celled creatures are "prokaryotes". Both eukaryotes and prokaryotes related to the endosymbiotic theory, and science has come up with enough evidence to support it.

According to the study, all living creatures undergo a process of energy production in their cells. With themitochondria in the cells poweringupthe division of cells, production of enzymes and chemicals happen and it keeps animals alive. This is much like a mini-factory inside so many cells that create power for adaption and evolution that led to what life there is right now. The "mitochondria" is something like a gift from these creatures' "prokaryotic ancestors" which made evolution possible.

With the knowledge that all creatures have the ancient "mitochondria" inside, the next question is how similar are advanced and primitive species. Finding the secret, how the mitochondria exactly work, is what scientists need to know. It is Pandora's box of secrets that will open a new age of knowing more about the cellular biology of every living thing today.

To probe further, scientists at the Tokyo University of Science, headed bySachihiro Matsunagadid research on "mitochondria" with red algae. To make it easier, the group used it because it had one mitochondrion only. One result that shows promise, is when proteins were phosphorylated by Aurora kinase that produced "dynamin". Later on, other experiments carried out in a human cell had the same result, and "dynamin" was found too.

The experiment proved there is indeed a connection from the Red algae to a complex human. Finding "dynamin" as a regulator of mitochondria division is an incredible find for the Japanese researchers. The impact of the result is impressive, which sheds light why mitochondria division is critical to all species from primitive to advanced.

Related Article: Breakthrough in Understanding Evolution - Mitochondrial Division Conserved Across Species

Go here to see the original:
Mitochondrial Division in the Cell Is Common in Primitive and Advanced Species on Earth - Science Times

Cell Biology

Trinity Biology Professor and Alumni Co-Author Paper Published in International Scientific Journal – Trinity College

January 7, 2020 medical

Research by Trinity College Professor of Biology Kent Dunlap and two of his former students was published last month in one of the worlds oldest scientific journals, the London-based Proceedings of the Royal Society B.

The paperwhich Dunlap co-authored with research students Josh Corbo 19 and Margarita Vergara 19, along with collaborators from the University of Texas at Arlingtonreports that killifish in Trinidad that live with predators in their environment grow more brain cells than those that face no predators. The study was highlighted recently by the science and technology magazine New Scientist.

The researchers studied the brains of fish that are separated into distinct populations by waterfalls along streams. The killifish living downstream live among predatory fish, while the fish upstream do not, said Corbo, who double-majored in biology and philosophy at Trinity and is now a Cancer Research Training Award (CRTA) Fellow at the National Cancer Institute. Our central question was: how does negative stimulipredationin the environment affect the rate of brain cell proliferation? The implication of our research reaches much farther than the Northern Mountain Range of Trinidad. The topic of how the environment we live in affects our health concerns many disciplines, from public health to sociology. Our research draws more attention to our understanding of the relationship we as organisms have with our environment.

Dunlap first traveled to Trinidad with the colleges Trinity in Trinidad program and found the freshwater killifish to be a good subject for his work on brain cells. The Dana Foundation supported my research and the Trinity in Trinidad program was very helpful with the logistics, said Dunlap, who has previously researched the production of brain cells in electric fish. When Dunlap brought specimens back to campus to study, Corbo and Vergara got to work. They were motivated, engaged students who really took ownership in the lab and were excellent lab scientists, Dunlap said. They were curious and capable and a delight to work with.

Vergara, who completed a major in biology and a minor in Italian at Trinity and is now earning a masters in clinical embryology at the University of Oxford, said that she and Corbo sectioned brain tissues and conducted a procedure called immunohistochemistry to quantify the formation of new brain cells. Professor Dunlap also allowed us to revise and provide constructive feedback for the manuscriptthat was submitted for publication, Vergara said.

Corbo added, It was a great experience to see a paper from start to finish as an undergraduate, as such an experience is usually gained while in graduate school. Corbo spent a summer working in the lab through Trinitys Summer Research Program and now attributes much of his ability as a researcher to the skills he learned as an undergraduate research student. Professor Dunlap emphasized that your research will not matter if you cannot talk about it. Nothing has been truer, Corbo said. During lab meetings, we would have random research presentations for which he would decide who the audience was; it could be a novice, a biology student, or an expert in the field. The task was to present your research in the most clear and concise manner. That was the most important lesson I learned during my time in the lab.

Trinity students have the opportunity to begin research work early in their undergraduate careers and build strong connections with faculty members. Vergara, who first worked in Dunlaps lab as a sophomore, said, I believe that the most valuable benefit of conducting research as an undergraduate is not only the practical skills that you learn along the way, but the relationships that you get to establish with your professor and lab mates. Professor Dunlap also supervised my thesis project, became a real mentor who advised me when I needed to make important career decisions, and taught me lessons that will always stay with me after graduating from Trinity.

For Vergara, the experience of working on research with Dunlap sharpened her problem-solving skills, strengthened her proficiency as an academic writer and critical thinker, and allowed her to develop new technical expertise. More importantly, she said, it allowed me to gain a balance between independence and collaboration. I learned the importance of asking questions, making decisions as a group, and communicating findings. The research assistantship provided me with a solid foundation for the challenges and tasks that I am now undertaking in graduate school.

Read the full paper co-authored by Dunlap and the Trinity alumni in the Proceedings of the Royal Society B here. Proceedings is the Royal Societys flagship biological research journal, dedicated to the worldwide dissemination of high-quality research. It publishes original articles and reviews of outstanding scientific importance and broad general interest. The main criteria for acceptance are that a study is novel and has general significance to biologists.

Cell Biology

Foundation Supports New Work on Brain-eating Amoeba – UMass News and Media Relations

January 7, 2020 medical

Evolutionary cell biologist Lillian Fritz-Laylin, biology, recently was granted a three-year, $300,000Smith Family Award for Excellence in Biomedical Researchto support her research on the pathogenesis of the brain-eating amoebaNaegleria fowleri. The amoeba gets inside swimmers noses, crawls up the olfactory nerve and into the brain where they destroy tissue.

As she explains, Although this amoeba has killed 95% of the people its infected, we know almost nothing about it. She and colleagues use the non-pathogenic sister species Naegleria gruberias a practical and safe study organism for understanding the basic biology of these species, in particular, how the cells move.

Fritz-Laylin adds, There are a lot of species of Naegleria, but only one causes disease, so there has been a lot of focus on that, but when treating the disease what really matters is how to kill Naegleria without hurting our own cells. Well be looking into ways to do that. Our human cells use two different polymer systems to move, but these amoeba use only one of them, so that difference could be a target for treatment.

Katrina Velle, a postdoctoral researcher in the Fritz-Laylin lab one of the few to study this organism, she notes will continue to lead the project and conduct much of the planned experimental and genomic work. Using gene manipulation, genomics techniques, treatment with various compounds and inhibitors, they will study how the organisms move, eat, divide and maintain their water balance.

We might be able to interrupt any one of these systems to kill them without hurting the person infected, Fritz-Laylin points out.

Much of her research has been focused on the evolution of cell movement, she notes, explaining that humans and Naeglaria shared a common ancestor about 1.2 billion years ago. The amoeba, which can either crawl or swim at different life cycle stages, evolved movement that looks similar to that of human white blood cells, but the underlying systems are very different; similar functions evolved along different pathways.

Human white blood cells are immune system scavengers that rove through the bloodstream eating invading pathogens. Fritz-Laylin explains, They eat bacteria, so they crawl around to hunt them. If you look in a microscope, Naeglaria move like our white blood cells but they achieve that movement differently.

For 28 years, the Smith Family Foundation has supported full-time faculty biomedical researchers at nonprofit academic, medical or research institutions in Massachusetts, at Brown University or at Yale University. Its mission is to launch the careers of newly independent biomedical researchers with the ultimate goal of achieving medical breakthroughs.

The rest is here:
Foundation Supports New Work on Brain-eating Amoeba - UMass News and Media Relations

Cell Biology

Silicon Therapeutics Expands Leadership Team with Key Appointments in Clinical Development and Strategy as well as Computational Physics – Business…

January 7, 2020 medical

BOSTON--(BUSINESS WIRE)--Silicon Therapeutics today announced three additions to its management team to help lead the company through its next stage of growth. Humphrey Gardner, MD, FCAP has joined the company as Chief Medical Officer; Christopher Borella, PhD, has joined as Vice President, Head of Operations; and Huafeng Xu, PhD, has joined as Chief Technology Officer.

"The appointments of Humphrey and Chris, who bring deep expertise in clinical development and strategy, reflect the progress we have made in building and advancing our oncology pipeline, said Lanny Sun, Silicon Therapeutics Co-founder and CEO. They will play key roles as our lead STING agonist enters clinical trials and our other programs advance towards the clinic. Huafeng will strengthen our leadership in computational physics, bringing over 15 years of experience in methods and theory development.

Dr. Gardner joins Silicon from Evelo Biosciences, where he served as Chief of Medical Oncology and led oncology discovery as well as the IND and clinical development of their first microbial cancer immune therapy. Previously, he served as Vice President of Early Clinical Development in both Infection and in Oncology at AstraZeneca, and as Senior Vice President of Clinical Development at Karyopharm. Prior to these appointments, he led the Oncology Translational Laboratories at Novartis, and various discovery and translational programs at Biogen. Before joining industry, Dr. Gardner was an Assistant Professor of Cell Biology at The Scripps Research Institute. Dr. Gardner obtained his BA in Biochemistry and his MB, BChir, at the University of Cambridge, UK. He did his specialty training in anatomic pathology at the Beth Israel Hospital, Harvard Medical School. He completed his postdoctoral fellowship at the Whitehead Institute in the laboratory of Professor Rudolf Jaenisch. Dr. Gardner has over 100 publications and patents in fields including oncology, neuroscience, rheumatology, and diagnostics.

Dr. Borella joins Silicon Therapeutics from Agios Pharmaceuticals where he was the Head of Early Stage Program Management and Project Leader for their MAT2A franchise. During his 8+ years at Agios, Chris and his team were directly involved in bringing seven drug candidates including two marketed drugs, Tibsovo (ivosidenib) and Idhifa, (enasidenib) forward into the clinic. Prior to Agios Therapeutics, Dr. Borella held project leadership positions at both Proteostasis and Synta Pharmaceuticals. He received his PhD in Medicinal Chemistry from Stony Brook University and was a post-doctoral fellow at Memorial Sloan Kettering Cancer Center.

Dr. Xu joins Silicon Therapeutics after 12 years at D. E. Shaw Research, the leading institution in method and hardware development for molecular simulations, where he played an early role in designing the specialized Anton chip for molecular dynamics simulations, and he led the development of the methods and software for free energy calculations that are now widely used in the pharmaceutical industry. He has also pioneered the application of long-timescale molecular simulations and statistical mechanical theory in revealing fundamental mechanisms of molecular recognition in immunology and virology. Dr. Xu started his career in the biotechnology industry at 3-Dimensional Pharmaceuticals. He earned his Bachelor of Science from Peking University and his M.S. and Ph.D. degrees from Columbia University. He was a visiting postdoctoral scholar in University of California, San Francisco.

About Silicon Therapeutics

Silicon Therapeutics (SiTX) is a physics-driven drug discovery company focused on small molecule therapeutics for cancer that target innate immunity to light the spark within immunologically cold tumors. The companys unique computational physics-based platform can accurately simulate the physical motion and properties of biological targets at atomistic resolution to reveal unique insights into the drug design process. The platform is cohesively integrated with a world-class wet lab including biophysics, chemistry, and biology to enable rapid hypothesis-driven data generation to advance drug discovery projects on targets that have traditionally been thought of as undruggable. The SiTX lead program is a small molecule STING agonist for systemic delivery in I/O that is slated to enter the clinic in mid-2020.

Learn more at http://www.silicontx.com

More here:
Silicon Therapeutics Expands Leadership Team with Key Appointments in Clinical Development and Strategy as well as Computational Physics - Business...

Cell Biology

Advanced imaging tips T cell target recognition on its head – Mirage News

January 7, 2020 medical

A team of leading Australian scientists have published research which transforms existing perceptions of T cell recognition.

T cells represent a key component of our immune system, and play a critical role in protecting us against harmful pathogens like viruses and bacteria, and cancers. The more we understand about how they recognise, interact with and even kill infected or cancer cells moves us closer to developing therapies and treatments for a range of conditions.

In a paper published today in the premier international journal Science, an Australian team of scientists led by Monash University, Hudson Institute of Medical Research, the Australian Research Council Centre of Excellence in Advanced Molecular Imaging and the University of Melbourne at the Doherty Institute, has redefined what we thought we knew about T cell recognition for the past 20 years.

Hudson Institutes Dr Edward Giles (Honorary Clinical Associate in Regulation of Interferon and Innate Signalling) provided valuable clinical contribution towards the study.

It was great to be able to contribute to this ground-breaking work on T cell recognition said Dr Giles.

Through a clinical collaboration, we were able to show this new immune interaction in the gut, and suggest a role in coeliac disease. Coeliac disease is an immune-mediated disease affected up to 1 in 70 Australians, and its only treatment is a lifelong strictly gluten-free diet. This new work opens potential new targets for treatment, as well as a deeper understanding of how the immune system recognises targets in the gut and elsewhere.

In order to interact with other cells in the body, T cells rely on specialised receptors known as T Cell Receptors (TCRs) that recognise virus or bacteria fragments that are bound to specialised molecules called major histocompatibility complex (MHC) or MHC-like. Over the past 20 years, the prevailing view was that TCRs sat atop the MHC and MHC-like molecules for recognition.

The team of scientists characterised a new population within a poorly understood class of T cells called gamma delta T Cells that can recognise an MHC-like molecule known as MR1.

Using a high intensity X-ray beam at the Australian Synchrotron, the scientists obtained a detailed 3D image of the interplay between the gamma delta TCR and MR1 revealing an intriguing result whereby the gamma delta TCR-bound underneath the MHC-like molecule for recognition.

This highly unusual recognition mechanism reshapes our understanding of how TCRs can interact with their target molecules, and represents a major development in the field of T cell biology.

Think of it like a flag attached to a cell. We always thought the T cells were coming along and reading that flag by sitting atop it. We have determined that instead, some T cells can approach and interact with it from underneath, said Dr Jrme Le Nours from Monash Biomedicine Discovery Institute, co-lead author on the paper.

These are the types of fine and important details that can change how we approach future research avenues in T cell biology, said Dr Le Nours.

This is important because T cells are a critical weapon in our immune system, and understanding how they target and interact with cells is crucial to harnessing their power in therapies such as infection and cancer immunotherapy.

Our study shows that MR1 is a new type of molecular target for gamma delta T cells. These cells play a decisive role in immunity to infection and cancer, yet what they respond to is poorly understood. MR1 may be signalling to gamma delta T cells that there is a virus, or cancer cell and triggering these cells to initiate a protective immune response said Dr Nicholas Gherardin from the Doherty Institute, co-lead author on the paper.

Were very excited to follow up these findings in studies that will aim to harness this new biology in disease settings.

The research findings were a culmination of a six-year project that involved collaborative support from Australian scientists, the ARC Centre of Excellence in Advanced Molecular Imaging, the use of the Australian Synchrotron, and funding from the National Health and Medical Research Council and the Australian Research Council.

Excerpt from:
Advanced imaging tips T cell target recognition on its head - Mirage News

Cell Biology

New protocol could signal shift in bone regenerative medicine – PR Web

January 7, 2020 medical

DURHAM, N.C. (PRWEB) January 06, 2020

A new, safe and efficient way to coax stem cells into bone cells is reported in a recently published article from STEM CELLS Translational Medicine (SCTM). The protocol, developed by researchers at the University of Sydney, Australian Research Centre (ARC) for Innovative BioEngineering, could lead to a shift in the treatment of bone regenerative medicine.

Large bone defects and loss due to cancer or trauma can result in scar tissue that impairs the bones ability to repair and regenerate. The current gold standard therapy, autografting, has inherent drawbacks, including limited availability and donor site morbidity. This leaves researchers seeking an alternative source of bone cells and makes bone tissue engineering a growing field with considerable translational potential.

The success of induced pluripotent stem cell (iPSC) technology to reprogram fibroblasts into progenitor cells of various lineages offers an exciting route for tissue repair and regeneration, said Zufu Lu, Ph.D., a member of the University of Sydneys Biomaterials and Tissue Engineering Research Unit and a research associate at the ARC for Innovative BioEngineering. He is a co-lead investigator of the SCTM study, along with Professor Hala Zreiqat, Ph.D., head of the research unit and director of the ARC Training Centre for Innovative BioEngineering.

However, while iPSC technology represents a potentially unlimited source of progenitor cells and allows patients to use their own cells for tissue repair and regeneration thus posing little or no risk of immune rejection the technology has several constraints. Among them are the requirement for complex reprogramming using the Yamanaka factors (Oct3/4, Sox2, Klf4, c-Myc). To add to the complexity, specific stimuli are required to direct iPSCs to re-differentiate to progenitor cells of the lineage of interest.

In addition, Dr. Lu said, any remaining iPSCs pose the risk of tumors following implantation.

One potential way around this, as demonstrated by recent studies, is through the direct reprogramming of fibroblasts into bone cells. Fibroblasts are morphologically similar to osteoblasts. Their similar transcriptomic profiles led us to hypothesize that distinct factors produced by osteoblasts may be capable of coaxing fibroblasts to become osteoblast-like cells, Prof. Zreiqat said.

Previous studies aimed at using fibroblasts to produce various cell types relied on the genetic manipulation of one or more transcription regulators. But just as with iPSCs, reprogramming fibroblasts in this manner has its own inherent technical and safety issues. The Lu-Zreiqat team, however, surmised that an approach employing natural factors might just allow better control over reprogramming and improve the safety.

Unlike genetic reprogramming, chemical induction of cell reprogramming is generally rapid and reversible, and is also more amenable to control through factor dosage and/or combinations with other molecules, Dr. Lu explained.

The team initially determined that media conditioned by human osteoblasts can induce reprogramming of human fibroblasts to functional osteoblasts. Next, said Prof. Zreiqat, our proteomic analysis identified a single naturally bioactive protein, insulin growth factor binding protein-7 (IGFBP7), as being significantly elevated in media conditioned with osteoblasts, compared to those with fibroblasts.

This led them to test IGFBP7s ability as a transcription factor. They found it, indeed, successfully induced a switch from fibroblasts to osteoblasts in vitro. They next tested it in a mouse model and once again experienced success when the fibroblasts produced mineralized tissue. The switch was associated with senescence and dependent on autocrine IL-6 signaling.

The approach we describe in our study has significant advantages over other commonly used cell sources including iPSCs and adult mesenchymal stem cells, Dr. Lu and Prof Zreiqat concluded.

Bone tissue engineering is a growing field where cell therapies have considerable translational potential, but current cell-based approaches face limitations, said Anthony Atala, M.D., Editor-in-Chief of STEM CELLS Translational Medicine and director of the Wake Forest Institute for Regenerative Medicine. The novel observation described in this study could potentially lead to a shift in the current paradigm of bone regenerative medicine.

This study was conducted in collaboration with the Charles Perkins Centre and the Childrens Hospital at Westmead, University of Sydney.

The full article, Reprogramming of human fibroblasts into osteoblasts by insulin-like growth factor binding protein 7, can be accessed at https://stemcellsjournals.onlinelibrary.wiley.com/doi/abs/10.1002/sctm.19-0281.

About STEM CELLS Translational Medicine: STEM CELLS Translational Medicine (SCTM), co-published by AlphaMed Press and Wiley, is a monthly peer-reviewed publication dedicated to significantly advancing the clinical utilization of stem cell molecular and cellular biology. By bridging stem cell research and clinical trials, SCTM will help move applications of these critical investigations closer to accepted best practices. SCTM is the official journal partner of Regenerative Medicine Foundation.

About AlphaMed Press: Established in 1983, AlphaMed Press with offices in Durham, NC, San Francisco, CA, and Belfast, Northern Ireland, publishes two other internationally renowned peer-reviewed journals: STEM CELLS (http://www.StemCells.com), celebrating its 38th year, is the world's first journal devoted to this fast paced field of research. The Oncologist (http://www.TheOncologist.com), also a monthly peer-reviewed publication, entering its 25th year, is devoted to community and hospital-based oncologists and physicians entrusted with cancer patient care. All three journals are premier periodicals with globally recognized editorial boards dedicated to advancing knowledge and education in their focused disciplines.

About Wiley: Wiley, a global company, helps people and organizations develop the skills and knowledge they need to succeed. Our online scientific, technical, medical and scholarly journals, combined with our digital learning, assessment and certification solutions, help universities, learned societies, businesses, governments and individuals increase the academic and professional impact of their work. For more than 200 years, we have delivered consistent performance to our stakeholders. The company's website can be accessed at http://www.wiley.com.

About Regenerative Medicine Foundation (RMF): The non-profit Regenerative Medicine Foundation fosters strategic collaborations to accelerate the development of regenerative medicine to improve health and deliver cures. RMF pursues its mission by producing its flagship World Stem Cell Summit, honouring leaders through the Stem Cell and Regenerative Medicine Action Awards, and promoting educational initiatives.

Read more from the original source:
New protocol could signal shift in bone regenerative medicine - PR Web

Genetics

Genosity, Columbia University Partner to Study Genetics of Rare Heart Condition – GenomeWeb

January 7, 2020 medical

NEW YORK Genosity said on Tuesday that it has partnered with Columbia University to investigate the genetic underpinnings of wild-type cardiac amyloidosis, a rare condition characterized by the accumulation of abnormal proteins in the heart.

Although there is a heritable form of cardiac amyloidosis called transthyretin-related (TTR) amyloidosis that is caused by mutations in the gene that encodes the protein transthyretin, some individuals develop the disease without such mutations.

Originally posted here:
Genosity, Columbia University Partner to Study Genetics of Rare Heart Condition - GenomeWeb

Genetics

Autism heritability: It probably does not mean what you think it means – Spectrum

January 7, 2020 medical

Brian Lee

Associate professor, Drexel University

The question of autisms heritability is compelling for researchers and laypeople alike, but many people in both groups misunderstand its definition.

Heritability is defined as the proportion of variation in a condition that is attributable to variation in genetics. Heritability estimates can influence how much time and money researchers like me think should be allocated to studying genetic factors versus environmental ones. For families with a history of autism, heritability estimates get right to the heart of the nature-versus-nurture debate, by offering clues about which factors led to an individuals diagnosis.

These numbers have substantial implications; they probably should not. Autism arises from a complex interplay of genetic and environmental factors, and most heritability studies oversimplify these relationships.

Several studies on autism heritability published in the past few years have drawn considerable attention. Those published from 2011 to 2014 estimated heritability to be in the 35 to 50 percent range, but studies published since 2017 have put the number at 64 to 85 percent.

What do these estimates actually mean?

Heritability is often misinterpreted as the proportion of a condition that is caused by genes. However, that interpretation is not quite correct. Or rather, so many asterisks must be attached in order for it to be correct, that it could not be, by any stretch of the imagination, considered to be correct.

Heritability estimates may tell us to what extent a persons genetics predispose them to a condition. But they tell us nothing about how different environments cause those genetics to play out.

First, let me explain why most estimates of heritability are incorrect. Studies that estimate autisms heritability use a statistical model to try to attribute the condition to either genetics or environment. Mounting evidence suggests this model is too simplistic to explain how autism arises.

The model generally looks something like this: Observed characteristics, or phenotype (P) = genotype (G) + environment (E). The G and E components can each be broken down further to get at specific types of genetic or environmental contributions, but the core point of the model is to separate G and E.

A statistical model is merely a caricature of the real world, though; the extent to which it is useful depends on how well the model reflects reality. The P = G + E model assumes that genetic and environmental influences are independent of each other and that genes do not interact with the environment or with other genes to influence phenotype.

We know in fact that networks of genes interact to influence a persons odds of having autism and that genetic factors raise the odds of having autism caused by environmental exposures such as infection, air pollution or nutrition.

In short, if reality is more complex than the model, that model may produce inaccurate heritability estimates. There are many more technical reasons why published heritability estimates are likely to be inaccurate1.

There is also a much simpler reason why heritability estimates should not be taken at face value: High heritability does not equal genetic causation, and it does not exclude the possibility of environmental influence.

Here are two thought experiments that demonstrate why.

Borrowing an example from the great evolutionary biologist Richard Lewontin, imagine planting a set of identical seeds in a uniform environment that ensures all the seeds receive equal amounts of light and nutrients. Any variation in the heights of the plants that grow from those seeds is solely attributable to genetic variation among the plants. The heritability in this scenario is 100 percent.

Now imagine taking another set of the same seeds and planting them in uniformly suboptimal growing conditions, with limited light and nutrients. The plants growth would be stunted, and again the heritability would be 100 percent.

The point is: Even where heritability is estimated to be 100 percent, the environment can influence phenotype. Of course, this is not limited to plants. For example, the heritability of human height is estimated to be approximately 80 percent, but height is still strongly regulated by a persons nutritional environment.

Next, consider this example from David S. Moore and David Shenk2. Imagine a bucket of water into which person A pours 40 liters of water and person B pours 60 liters of water. Clearly, 40 percent of the water is attributable to person A, 60 percent to person B. Now imagine the same bucket, but this time person A turns on the faucet and person B holds the hose. How much of the water in the bucket is due to person A and how much is due to person B?

In short, when causes interact to create an outcome, it becomes nonsensical to try to apportion credit (or blame) to one cause independent of the other.

The bucket example is not just a thought experiment; it represents conditions that have both genetic and environmental components.

Consider the condition phenylketonuria, which occurs in people who have genetic variants that affect how their bodies metabolize the amino acid phenylalanine. The condition does not occur in the absence of the genetic variants, but it also does not occur if phenylalanine is removed from the diet. So how much of it can be attributed to genes versus the environment?

The consequences of miscasting heritability as the contribution of genetics to any given individuals diagnosis are potentially dire. As well as misinforming the public, it could throw funding for research on the etiology of autism entirely into genetic research rather than into how genes and environment interact.

This should cause genetic and environmental researchers alike great concern.

The search for rare genetic variants that may cause autism has yielded many important findings, but the search for common variants, whose influence combines to raise autisms odds, has been less fruitful. There are likely to be many of these variants, each exerting only weak effects, which makes them undetectable except in massive study samples. It is also highly likely that many common variants do not exert an effect unless they are present along with another genetic or environmental factor.

Animal models that explore genetic factors in the absence of relevant environmental interactions could be doomed never to recapitulate those genetic factors effects in people.

In short, many heritability estimates of autism in the literature are likely to be inaccurate and, more importantly, prone to misinterpretation. Rather than asking: Are genes or the environment responsible for autism? we should be asking: How are genes and the environment responsible for autism?

Brian Lee is associate professor of epidemiology and biostatistics at Drexel University in Philadelphia, Pennsylvania.

See the rest here:
Autism heritability: It probably does not mean what you think it means - Spectrum

Genetics

Second Annual Medical Genetics Awareness Week Will Be Celebrated March 17-21, 2020 – P&T Community

January 7, 2020 medical

BETHESDA, Md., Jan. 7, 2020 /PRNewswire/ --The second annual Medical Genetics Awareness Week will be celebrated March 17-21, 2020. Through Medical Genetics Awareness Week, the American College of Medical Genetics and Genomics (ACMG) aims to promote awareness of the importance of medical genetics professionals, including medical geneticists, laboratory geneticists, genetic counselors, nurses and physician assistants, on the healthcare team. The theme of Medical Genetics Awareness Week is "Celebrating the Contributions of the Entire Medical Genetics Team to Patient Care."

New for 2020 are dedicated medical genetics awareness web pages available at http://www.acmg.net/medicalgeneticsawareness. These pages offer a wide range of resources including tips on how to become an ambassador for medical genetics in your workplace and community; a resource tool kit with suggestions for medical genetics-related activities and tools for use on social media; and information on careers in medical genetics.

Medical Genetics Awareness Week is celebrated to recognize the invaluable contributions that medical genetics healthcare professionals make in the diagnosis, management and prevention of genetic diseases, and the difference these professionals make in the lives of patients and families. Medical Genetics Awareness Week is also intended to educate other healthcare professionals, students and trainees on who medical geneticists are, how they are trained and what they do in the clinic and laboratory.

"As medical genetics and genomics finds a home in healthcare systems across the country, remember the valuable role that the medical and laboratory geneticist plays in delivering high quality high value care," said Anthony R. Gregg, MD, MBA, FACOG, FACMG. "Some in our community have more than 10 years of laboratory and/or clinical training after college. Our disciplines attract the "best in class." As we speak with and care for our patients, we are reminded that it is a privilege to be a part of the medical genetics teama team that includes care providers across the clinical spectrum."

Events related to Medical Genetics Awareness Week will be held during the ACMG Annual Clinical Genetics Meeting in San Antonio, Texas (www.acmgmeeting.net) March 17-21, 2020. The ACMG Annual Meeting is the largest conference specifically for clinical geneticists in the United States. Those interested in collaborating with ACMG to celebrate Medical Genetics Awareness Week, holding their own event or becoming an "ambassador" for medical genetics are invited to email rsantos@acmg.net for more information.

"As a practicing clinical geneticist I have been working with individuals dealing with a genetic issue in their family for over three decades," said Maximilian Muenke, MD, FACMG, ACMG'schief executive officer. "It has been a privilege to meet and accompany families over the years and learn from their challenges and how many of them grow in the process. Even though the overall numbers of healthcare professionals in medical genetics have grown, the demand for genetics services has grown even faster. Based on the preliminary data analysis of the NCC Medical Genetics Workforce Survey, a study initiated by the American College of Medical Genetics and Genomics, wait times to make an appointment with a medical geneticist are too long in many parts of the US. It is my hope that the Medical Genetics Awareness Week will increase knowledge of our profession in the general population and compassion for those affected by genetic conditions."

In 2019, the first ever Medical Genetics Awareness Week brought together people from across the globe to raise awareness of the important work of medical geneticists. The success of the 2020 celebration will once again rest on the participation of people everywhere. ACMG invites you to help 2020's celebration set new records for engagement by visiting the new Medical Genetics Awareness Week web pages and using the resources and tools we offer to support your celebrations. Be sure to tag @TheACMG on social media and include the following hashtags in your social media posts related to Medical Genetics Awareness Week:

#MedicalGeneticsAwareness#IamaMedicalGeneticist#FutureGeneticsProfessional#IamaLabGeneticist#IamaGeneticCounselor#IamaNurseinGenetics#IamaGeneticsPA

About the American College of Medical Genetics and Genomics (ACMG) and ACMG Foundation

Founded in 1991, the American College of Medical Genetics and Genomics (ACMG) is the only nationally recognized medical society dedicated to improving health through the clinical practice of medical genetics and genomics and the only medical specialty society in the US that represents the full spectrum of medical genetics disciplines in a single organization. The ACMG is the largest membership organization specifically for medical geneticists, providing education, resources and a voice for more than 2,300 clinical and laboratory geneticists, genetic counselors and other healthcare professionals, nearly 80% of whom are board certified in the medical genetics specialties. ACMG's mission is to improve health through the clinical and laboratory practice of medical genetics as well as through advocacy, education and clinical research, and to guide the safe and effective integration of genetics and genomics into all of medicine and healthcare, resulting in improved personal and public health. Four overarching strategies guide ACMG's work: 1) to reinforce and expand ACMG's position as the leader and prominent authority in the field of medical genetics and genomics, including clinical research, while educating the medical community on the significant role that genetics and genomics will continue to play in understanding, preventing, treating and curing disease; 2) to secure and expand the professional workforce for medical genetics and genomics; 3) to advocate for the specialty; and 4) to provide best-in-class education to members and nonmembers. Genetics in Medicine, published monthly, is the official ACMG journal. ACMG's website (www.acmg.net) offers resources including policy statements, practice guidelines, educational programs and a 'Find a Genetic Service' tool. The educational and public health programs of the ACMG are dependent upon charitable gifts from corporations, foundations and individuals through the ACMG Foundation for Genetic and Genomic Medicine.

Kathy Moran, MBAkmoran@acmg.net

View original content to download multimedia:http://www.prnewswire.com/news-releases/second-annual-medical-genetics-awareness-week-will-be-celebrated-march-17-21-2020-300981277.html

SOURCE American College of Medical Genetics and Genomics

Continued here:
Second Annual Medical Genetics Awareness Week Will Be Celebrated March 17-21, 2020 - P&T Community