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Vice Provost Nathan Urban to take position at Lehigh – University of Pittsburgh The Pitt News

Nathan Urban will leave his position as vice provost for Pitts graduate studies and strategic initiatives this summer to become the provost of Lehigh University.

According to a statement released by Provost and Senior Vice Chancellor Ann Cudd, details regarding the search for his successor will be announced in the coming weeks.

Urban started working in the Office of the Provost in 2015 as a vice provost for special projects and later became vice provost for graduate studies and strategic initiatives in 2017. He has also served as a professor and associate chair of the department of neurobiology, the associate director of the Brain Institute and co-director of the Center for the Neural Basis of Cognition.

During his time as vice provost for graduate studies and strategic initiatives, Urban established several programs in order to bring graduate students across the University closer together such as monthly newsletters, social media platforms, events and office hours. He also started the graduate studies retreat a daylong event that brings together administrators, faculty and students from 14 of Pitts graduate and professional schools. More recently, Urban served as a co-chair of the Plan for Pitt 2025 committee.

According to the statement, he is also regularly involved with the Postdoctoral Association and has assisted members in promoting resources from across the University to postdoctoral students.

Urban is also a Pitt alum and received a bachelors of science in neuroscience, math and philosophy and a Ph.D. in neuroscience from the University.

Urban worked for Carnegie Mellon from 2002 to 2015 before coming to Pitt. He began as a professor in the biological sciences department after completing a postdoctoral fellowship at the Max Planck Institute for Medical Research in Heidelberg, Germany. He later became the Frederick Schwertz Distinguished Professor of Life Sciences and head of the biological sciences department from 2010 to 2014. Urban served as CMUs interim provost from 2014 to 2015.

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Vice Provost Nathan Urban to take position at Lehigh - University of Pittsburgh The Pitt News

The Hereditary Neuropathy Foundation’s Movement is Medicine Program Expands to Florida and Continues to Shed Light on the Impact Exercise Has on…

NEW YORK, March 3, 2020 /PRNewswire/ -- The Hereditary Neuropathy Foundation(HNF) Movement is Medicine is expanding across the US with its latest Summit announced for March 21, 2020 in Winter Park, Florida at the Center for Health and Wellbeing, which is a collaboration between the Winter Park Health Foundationand AdventHealth. The 80,000-square foot, state-of-the-art facility offers the best community health and wellness programs in Central Florida.

"The Neuromuscular Division of the AdventHealth Neuroscience Institute is overjoyed to partner with the Hereditary Neuropathy Foundation as a Center of Excellence. The HNF has established itself as an organization in which individuals with hereditary neuropathies-also known as CMT-come first. Our division echoes this goal of patients coming first. We are excited to host the Movement is Medicine program here in Orlando; this program will demonstrate not only how much exercise is necessary in hereditary neuropathies, but also how much fun exercise can be by forming new friendships and creating positive energy that can be healing in every way."

-Nivedita Jerath MD, MS Medical Director of Neuromuscular Medicine, AdventHealth

Sponsored by AdventHealth, this Movement is Medicine Summit will be free to attend and feature inspirational speakers, expert instructors and informational breakout sessions specifically curated by and for CMT patients.

Over 100 attendees are expected to participate, with children, caretakers and family members also welcome.

"HNF is thrilled to bring its groundbreaking Movement is Medicine program to Winter Park," said Allison Moore, Founder and CEO of HNF. "Our patient-centered approach to the treatment of CMT disease is aligned with the terrific work that Dr. Jerathand her team are doing at the AdventHealth Neuroscience Institute, and we couldn't be more excited to be holding our event at the Center for Health and Wellbeing.

Registerfor the Movement is Medicine Summit Orlando.

HNF is grateful for all who continue to help make these impactful Summits possible and who are making a difference in the lives of our courageous attendees.

The HNF team is also planning its annual 2-day Movement is Medicine Summit in Phoenix, AZ at Ability360 for November 13-14th, 2020.

About Hereditary Neuropathy Foundation (HNF)HNF, a non-profit 501(c) 3 organizationwhose mission is to increase awareness and accurate diagnosis of CMT and related inherited neuropathies, support patients and families with critical information to improve quality of life, and fund research that will lead to treatments and cures. HNF developed the Therapeutic Research in Accelerated Discovery (TRIAD) program, a collaborative effort with academia, government and industry, to develop treatments for CMT. Currently, TRIAD involves many groups that span the drug discovery, drug development and diagnostics continuum.

About AdventHealth's Central Florida Division:Founded in 1908 by pioneering Seventh-day Adventists who believed in whole-person health healing the body, mind and spirit AdventHealth has grown into one of the largest nonprofit hospitals in the country, caring for more than two million patient visits per year in metro Orlando alone. AdventHealth operates more than 50 hospitals and hundreds of care centers in nearly a dozen states, making it one of the largest faith-based health-care systems in the United States.

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AdventHealth's Central Florida Division encompasses 20 hospitals in the seven counties in and surrounding metro Orlando: Orange, Seminole, Osceola, Polk, Lake, Volusia and Flagler. The Central Florida Division's care network also includes more than 30 Centra Care urgent-care centers; dozens of sports-rehab and imaging centers; and hundreds of physicians, ranging from primary care to a full spectrum of specialties.

AdventHealth Orlando, the division's flagship campus, serves both as a community hospital and as a major tertiary referral hospital for the region, much of the Southeast, the Caribbean and Latin America.

AdventHealth Orlando is a designated statutory teaching hospital and trains physicians from around the world on the newest technology and procedures. The system provides a wide range of health services, including many nationally and internationally recognized programs in cardiology, cancer, women's medicine, neuroscience, diabetes, orthopedics, pediatrics, transplant and advanced surgical programs.

The AdventHealth Research Institute has more than 250 investigators and more than 500 clinical trials in progress. AdventHealth Orlando is also home to the Translational Research Institute for Metabolism & Diabetes and the Nicholson Center for Surgical Advancement.

Contact: Allison MooreT: 1-855-HELPCMT (435-7268)E: allison@hnf-cure.org

(PRNewsfoto/Hereditary Neuropathy Foundation)

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Neuroscience Antibodies & Assays Market 2020 Analysis by Overview, Growth, Top Companies, Trends, Demand and Forecast to 2026 – Packaging News 24

Verified Market Research adds new research report on market size for Neuroscience Antibodies & Assays and regional forecasts for 2020-2026. The report provides an in-depth analysis of the Neuroscience Antibodies & Assays market, taking into account market dynamics, segmentation, geographic expansion, the competitive landscape, and various other key issues. The market analysts who prepared the report have thoroughly examined the Neuroscience Antibodies & Assays market and provided reliable and accurate data. They understand the needs of the industry and customers, so they can easily focus on the issues that end users have been looking for. The research report provides an analysis of an assessment of existing and upcoming trends in which players can invest. It also includes an assessment of the players financial prospects and the nature of the competition.

Neuroscience Antibodies & Assays Market was valued at USD 2.42 Billion in 2018 and is projected to reach USD 5.14 Billion by 2026, growing at a CAGR of 9.7% from 2019 to 2026.

This report includes the following Companies; We can also add other companies you want:

Neuroscience Antibodies & Assays Market: Competitive Landscape

The competitive landscape is a must for market participants to withstand the competition in the Neuroscience Antibodies & Assays market. This helps market participants to develop effective strategies to optimize their market positions. In addition, the competitive analysis helps them identify potential benefits and obstacles in the Neuroscience Antibodies & Assays market. This allows them to monitor how their competitors are implementing different strategies, including pricing, marketing, and sales.

Neuroscience Antibodies & Assays Market: Drivers and Limitations

The report section explains the various drivers and controls that have shaped the global market. The detailed analysis of many market drivers enables readers to get a clear overview of the market, including the market environment, government policy, product innovation, development and market risks.

The research report also identifies the creative opportunities, challenges, and challenges of the Neuroscience Antibodies & Assays market. The framework of the information will help the reader identify and plan strategies for the potential. Our obstacles, challenges and market challenges also help readers understand how the company can prevent this.

Neuroscience Antibodies & Assays Market: Segment Analysis

The report section contains segmentations such as application, product type and end user. These segments help determine which parts of the market will improve over others. This section analysis provides information on the most important aspects of developing certain categories better than others. It helps readers understand strategies to make solid investments. The market for Neuroscience Antibodies & Assays is segmented according to product type, applications and end users.

Neuroscience Antibodies & Assays Market: Regional Analysis

This section of the report contains detailed information on the market in different regions. Each region offers a different market size because each state has different government policies and other factors. The regions included in the report are North America, Europe, Asia Pacific, the Middle East and Africa. Information about the different regions helps the reader to better understand the global market.

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Table of Content

1 Introduction of Neuroscience Antibodies & Assays Market

1.1 Overview of the Market1.2 Scope of Report1.3 Assumptions

2 Executive Summary

3 Research Methodology of Verified Market Research

3.1 Data Mining3.2 Validation3.3 Primary Interviews3.4 List of Data Sources

4 Neuroscience Antibodies & Assays Market Outlook

4.1 Overview4.2 Market Dynamics4.2.1 Drivers4.2.2 Restraints4.2.3 Opportunities4.3 Porters Five Force Model4.4 Value Chain Analysis

5 Neuroscience Antibodies & Assays Market , By Deployment Model

5.1 Overview

6 Neuroscience Antibodies & Assays Market , By Solution

6.1 Overview

7 Neuroscience Antibodies & Assays Market , By Vertical

7.1 Overview

8 Neuroscience Antibodies & Assays Market , By Geography

8.1 Overview8.2 North America8.2.1 U.S.8.2.2 Canada8.2.3 Mexico8.3 Europe8.3.1 Germany8.3.2 U.K.8.3.3 France8.3.4 Rest of Europe8.4 Asia Pacific8.4.1 China8.4.2 Japan8.4.3 India8.4.4 Rest of Asia Pacific8.5 Rest of the World8.5.1 Latin America8.5.2 Middle East

9 Neuroscience Antibodies & Assays Market Competitive Landscape

9.1 Overview9.2 Company Market Ranking9.3 Key Development Strategies

10 Company Profiles

10.1.1 Overview10.1.2 Financial Performance10.1.3 Product Outlook10.1.4 Key Developments

11 Appendix

11.1 Related Research

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Verified market research partners with clients to provide insight into strategic and growth analytics; data that help achieve business goals and targets. Our core values include trust, integrity, and authenticity for our clients.

Analysts with high expertise in data gathering and governance utilize industry techniques to collate and examine data at all stages. Our analysts are trained to combine modern data collection techniques, superior research methodology, subject expertise and years of collective experience to produce informative and accurate research reports.

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TAGS: Neuroscience Antibodies & Assays Market Size, Neuroscience Antibodies & Assays Market Growth, Neuroscience Antibodies & Assays Market Forecast, Neuroscience Antibodies & Assays Market Analysis, Neuroscience Antibodies & Assays Market Trends, Neuroscience Antibodies & Assays Market

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Neuroscience Antibodies & Assays Market 2020 Analysis by Overview, Growth, Top Companies, Trends, Demand and Forecast to 2026 - Packaging News 24

Nathan Urban announced as new provost – The Brown and White

Nathan Urban was announced as the new provost, as Pat Farrell steps down from the role in June, according to an email sent to the Lehigh community from President John Simon on March 2.

Urban will also assume the role of senior vice president for academic affairs. He is currently the vice provost of graduate studies and strategic initiatives at the University of Pittsburgh, according to the email.

Following a global search of candidates, Urban was selected as the ideal choice to help us continue our efforts to build a stronger university, Simon said in the email.

Simon said in the email Urban helped to improve communication between the students and the administration at the University of Pittsburgh, and he created a better graduate student experience and sense of community.

Urban is also associate chair of the department of neurobiology and professor at the University of Pittsburgh. He was previously head of the department of biological sciences from 2010-14 and interim provost from 2014-15 at Carnegie Mellon University.

With a Ph.D. in neuroscience and a B.S. in neuroscience, math and philosophy from the University of Pittsburgh, Urban earned his undergraduate degree in math and philosophy as a Rhodes Scholar at Oxford University. His work, which focuses on brain activity and analysis of behavior, has been published in scientific journals.

As provost, Urban will bring new ideas for ongoing initiatives like GO: The Campaign for Lehigh and the Path to Prominence. He will work with the rest of the administration to continue to make an impact in teaching, research and service, Simon said in the email.

Urban said in the university announcement he wants to be a part of Lehighs developing connection the the community and alumni, and he has a vision of continuing to improve the student experience while emphasizing a quality education and strong faculty.

Urban will replace Farrell on June 30.

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Nathan Urban announced as new provost - The Brown and White

Study reveals the neural basis of sensory hypersensitivity in people with autism – The Medical News

Many people with autism spectrum disorders are highly sensitive to light, noise, and other sensory input. A new study in mice reveals a neural circuit that appears to underlie this hypersensitivity, offering a possible strategy for developing new treatments.

MIT and Brown University neuroscientists found that mice lacking a protein called Shank3, which has been previously linked with autism, were more sensitive to a touch on their whiskers than genetically normal mice. These Shank3-deficient mice also had overactive excitatory neurons in a region of the brain called the somatosensory cortex, which the researchers believe accounts for their over-reactivity.

There are currently no treatments for sensory hypersensitivity, but the researchers believe that uncovering the cellular basis of this sensitivity may help scientists to develop potential treatments.

"We hope our studies can point us to the right direction for the next generation of treatment development," says Guoping Feng, the James W. and Patricia Poitras Professor of Neuroscience at MIT and a member of MIT's McGovern Institute for Brain Research.

Feng and Christopher Moore, a professor of neuroscience at Brown University, are the senior authors of the paper, which appears today in Nature Neuroscience. McGovern Institute research scientist Qian Chen and Brown postdoc Christopher Deister are the lead authors of the study.

The Shank3 protein is important for the function of synapses -- connections that allow neurons to communicate with each other. Feng has previously shown that mice lacking the Shank3 gene display many traits associated with autism, including avoidance of social interaction, and compulsive, repetitive behavior.

In the new study, Feng and his colleagues set out to study whether these mice also show sensory hypersensitivity. For mice, one of the most important sources of sensory input is the whiskers, which help them to navigate and to maintain their balance, among other functions.

The researchers developed a way to measure the mice's sensitivity to slight deflections of their whiskers, and then trained the mutant Shank3 mice and normal ("wild-type") mice to display behaviors that signaled when they felt a touch to their whiskers. They found that mice that were missing Shank3 accurately reported very slight deflections that were not noticed by the normal mice.

They are very sensitive to weak sensory input, which barely can be detected by wild-type mice. That is a direct indication that they have sensory over-reactivity."

Guoping Feng, the James W. and Patricia Poitras Professor of Neuroscience at MIT and a member of MIT's McGovern Institute for Brain Research

Once they had established that the mutant mice experienced sensory hypersensitivity, the researchers set out to analyze the underlying neural activity. To do that, they used an imaging technique that can measure calcium levels, which indicate neural activity, in specific cell types.

They found that when the mice's whiskers were touched, excitatory neurons in the somatosensory cortex were overactive. This was somewhat surprising because when Shank3 is missing, synaptic activity should drop. That led the researchers to hypothesize that the root of the problem was low levels of Shank3 in the inhibitory neurons that normally turn down the activity of excitatory neurons. Under that hypothesis, diminishing those inhibitory neurons' activity would allow excitatory neurons to go unchecked, leading to sensory hypersensitivity.

To test this idea, the researchers genetically engineered mice so that they could turn off Shank3 expression exclusively in inhibitory neurons of the somatosensory cortex. As they had suspected, they found that in these mice, excitatory neurons were overactive, even though those neurons had normal levels of Shank3.

"If you only delete Shank3 in the inhibitory neurons in the somatosensory cortex, and the rest of the brain and the body is normal, you see a similar phenomenon where you have hyperactive excitatory neurons and increased sensory sensitivity in these mice," Feng says.

The results suggest that reestablishing normal levels of neuron activity could reverse this kind of hypersensitivity, Feng says.

"That gives us a cellular target for how in the future we could potentially modulate the inhibitory neuron activity level, which might be beneficial to correct this sensory abnormality," he says.

Many other studies in mice have linked defects in inhibitory neurons to neurological disorders, including Fragile X syndrome and Rett syndrome, as well as autism.

"Our study is one of several that provide a direct and causative link between inhibitory defects and sensory abnormality, in this model at least," Feng says. "It provides further evidence to support inhibitory neuron defects as one of the key mechanisms in models of autism spectrum disorders."

He now plans to study the timing of when these impairments arise during an animal's development, which could help to guide the development of possible treatments. There are existing drugs that can turn down excitatory neurons, but these drugs have a sedative effect if used throughout the brain, so more targeted treatments could be a better option, Feng says.

"We don't have a clear target yet, but we have a clear cellular phenomenon to help guide us," he says. "We are still far away from developing a treatment, but we're happy that we have identified defects that point in which direction we should go."

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Study reveals the neural basis of sensory hypersensitivity in people with autism - The Medical News

Leading National Genetics Foundation to Present Adapted Bikes to San Antonio-Area Children with Genetic Conditions – Herald-Mail Media

BETHESDA, Md., March 2, 2020 /PRNewswire/ -- The ACMG Foundation for Genetic and Genomic Medicine and genetics professionals from around the world will be on hand Friday, March 20th from 10:30 11:00 AM in the Henry B. Gonzlez Convention Center in San Antonio, Texas to present bicycles to local San Antonio-area children from the Sickle Cell Association of Texas Marc Thomas Foundation and the Down Syndrome Association of South Texas as part of the 2020 ACMG Annual Clinical Genetics Meeting.

The annual ACMG Foundation Day of Caring is sponsored by the ACMG Foundation for Genetic and Genomic Medicine, a prominent national nonprofit genetics foundation based in Bethesda, Maryland.

DeAnna Navarro, administrator and community health worker with the Sickle Cell Association of Texas Marc Thomas Foundation, said, "Our hearts are filled with gratitude by the thoughtfulness of the ACMG Foundation. We are genuinely grateful to have been selected to partner in the 2020 Day of Caring! The customized bicycles will provide ideal activity for children affected by sickle cell disease that is low-impact and therapeutic. We are excited that this gesture will help to bring a sense of normalcy to their lives."

Nicole Galindo, development manager at Down Syndrome Association of South Texas (DSASTX), said, "We are so grateful and ecstatic to be participating in ACMG's Day of Caring this year. The DSASTX is beyond thankful to have been chosen to receive these awesome bicycles for some of our awesome families. Having a bike that is custom fitted to each child provides such fun, gets them outdoors and can be seen as a confidence booster."

"We all look forward to the Day of Caring event as a way to express our respect for patients and families who deal with genetic conditions every day. We are grateful to our sponsors and to our members for making this event possible," said Bruce R. Korf, MD, PhD, FACMG, president of the ACMG Foundation.

The ACMG Foundation for Genetic and Genomic Medicine, whose theme is Better Health through Genetics, supports education, research and a variety of other programs to translate genetic research into better health for all individuals. The ACMG Foundation 2020 Day of Caring is supported by PerkinElmer, members of the American College of Medical Genetics and Genomics (ACMG), and the ACMG Foundation for Genetic and Genomic Medicine.

Note to assignment desks, news desks and editors: This is a wonderful photo, television and video opportunity. To arrange interviews with experts in medical genetics, local San Antonio-area families participating in the 2020 Day of Caring or to receive a complimentary pass to attend and cover the ACMG Annual Clinical Genetics Meeting, March 17-21, 2020 at the Henry B. Gonzlez Convention Center, contact Kathy Moran, MBA, ACMG senior director of public relations, at kmoran@acmg.net.

About the ACMG Foundation for Genetic and Genomic Medicine

The ACMG Foundation for Genetic and Genomic Medicine, a 501(c)(3) nonprofit organization, is a community of supporters and contributors who understand the importance of medical genetics and genomics in healthcare. Established in 1992, the ACMG Foundation supports the American College of Medical Genetics and Genomics (ACMG) mission to "translate genes into health." Through its work, the ACMG Foundation fosters charitable giving, promotes training opportunities to attract future medical geneticists and genetic counselors to the field, shares information about medical genetics and genomics, and sponsors important research. To learn more and support the ACMG Foundation mission to create "Better Health through Genetics" visit http://www.acmgfoundation.org.

Kathy Moran, MBAkmoran@acmg.net

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Leading National Genetics Foundation to Present Adapted Bikes to San Antonio-Area Children with Genetic Conditions - Herald-Mail Media

UPDATED: Vertex, Seattle Genetics, Alpine withdraw from investor conference as biotechs brace for coronavirus – Endpoints News

Speed is of the essence when it comes to developing vaccines and therapeutics for the new coronavirus. Especially if you are briefing President Donald Trump.

Whats your timing here? was Trumps go-to question after he listened to each of the 10 biopharma executives who convened in the White House Monday afternoon with the coronavirus task force led by VP Mike Pence.

The usual suspects were present: Stphane Bancel of Moderna, which has shipped off its mRNA vaccine for a Phase I study at the NIH; Len Schleifer of Regeneron, in the hunt for antibodies; Gileads Daniel ODay, there to discuss the two Phase III trials his company has started for a closely watched antiviral; and GlaxoSmithKline CEO Emma Walmsley, together with representatives of J&J and Sanofi, representing the traditional vaccine makers.

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UPDATED: Vertex, Seattle Genetics, Alpine withdraw from investor conference as biotechs brace for coronavirus - Endpoints News

USDA grant supports potato breeding and genetics program – MSUToday

Michigan State University received $700,000 from the U.S. Department of Agricultures National Institute of Food and Agriculture to invest in its potato breeding and genetics program.

The award is part of a $2.25 million four-part grant to support potato breeding in strategic areas across the country, which includes partnering institutions University of Minnesota, North Dakota State University and the University of Wisconsin.

Potato production in Michigan, Minnesota, North Dakota and Wisconsin accounts for nearly a quarter of U.S. potato acreage and a farmgate value of $982.5 million. The North Central region which also includes Illinois, Indiana, Iowa, Kansas, Missouri, Nebraska, Ohio and South Dakota is responsible for the most potato production outside of the Pacific Northwest.

Dave Douches, a professor in the MSU Department of Plant, Soil and Microbial Sciences, has led the MSU potato breeding and genetics program for nearly 30 years. The program has produced nearly 30 new potato varieties. The most recent, Blackberry, is a purple-fleshed variety that took more than 20 years to develop. It is resistant to potato scab and has high antioxidant levels.

This is a new round of funding for our long-term genetics work to help us interact with growers and develop new varieties, Douches said. The USDA has supported these efforts with multiple grants. The advancements weve made wouldnt be possible without this support.

The grant proposal outlines the following objectives:

Douches said that geneticists are looking not only to improve varieties for growers by focusing on disease and pest resistance, but also to meet consumer demand. Enhanced nutritional profiles are a crucial aspect of the research.

Weve been most known for producing potatoes that go into snacks such as potato chips, Douches said. Thats been important to us, but the companies were working with want to explore how we can improve the nutritional properties of our varieties. This can help us make snacking healthier, and all of our partners from growers to companies have shown interest in that.

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USDA grant supports potato breeding and genetics program - MSUToday

Lawson team wins $4.8M to test made-in-London genetic disease screening tool – The London Free Press

Dr. Bekim Sadikovic. (File photo)

London researchers have won a $4.8-million in funding to test a locally developed screening tool that can help doctors pinpoint difficult-to-diagnose genetic disorders.

The funding will let a team at Lawson Health Research Institute, the research arm of Londons hospitals, undertake three or four years of clinical studies of EpiSign technology.

At this point, we can use this technology to test for almost 50 different conditions, said Bekim Sadikovic, the Lawson scientist who heads London Health Sciences Centres molecular genetics division. Weve been studying this technology to see how far it reaches and how many disorders we can help ultimately diagnose with it.

The research team will recruit 4,000 patients from across Canada for the study. Since EpiSign tests for neurodevelopmental conditions typically noticed in early childhood, most study participants will be younger kids, Sadikovic said.

Detecting some genetic disorders is straightforward: Researchers analyze a patients DNA, comparing it to normal genetic material to find any abnormal genes and make a diagnosis, he said.But sometimes, patents who likely have genetic disorders also have normal DNA structures, sending them on a diagnostic odyssey in search of answers and treatment.

One of the big challenges has been diagnosing these patients, Sadikovic said. Currently we do fairly broad genetic and genomic testing and generally speaking, at best, our diagnostic rate in this population is about 50 per cent.

The teams EpiSign technology takes a deeper look at DNA, examining epigenomes that switch certain genes on and off.Some patients have normal DNA structure, but abnormal epigenomes. The team has pinpointed epigenetic signatures of nearly 50 rare genetic diseases, including developmental and intellectual disabilities such as Fragile X, Angelman and Kabuki syndromes.

With the EpiSign test, doctors draw blood from a patient, examine the DNA and epigenomes and compare the findings to a database of results from thousands of patients curated by London researchers.

The multi-year study will see if there are benefits to using EpiSign as a first-line diagnostic tool.Researchers will see if the new test produces quicker diagnoses, reduces the need for other tests and helps cut health-care costs, Sadikovic said.

The team also aims to increase the number of disorders it can detect.

The research project is funded by LHSC, Illumina, a California-based biotech firm, and Genome Canada, a federally funded national non-profit supporting gene research and technology.

jbieman@postmedia.com

twitter.com/JenatLFPress

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Lawson team wins $4.8M to test made-in-London genetic disease screening tool - The London Free Press

Building ‘better’ astronauts through genetic engineering could be key to colonizing other planets – Genetic Literacy Project

Space exploration has long been a source of fascination. Since the stars first captured our attention, we have obsessed over that vast curtain of darkness that lies beyond our atmosphere. But to what end? What ultimate goal does mankind strive towards, if not the ability to visit and colonize other worlds?

Before we can take our first steps out into the universe, we have to answer a critical question: Do we have the ability to adapt to other environments very different from what we have on Earth to not only survive, but to thrive? Instead of focusing on how we might terraform other planets to suit us, perhaps we should consider how we might use genetic engineering to alter own bodies to suit those other planets.

As a jumping off point, lets consider the feasibility of using the popular gene-editing tool CRISPR to alter human physiology to tolerate parameters outside of Earths norms. If we take a look at common factors that are significant to human health, gleaned from our experience with space exploration, the most obvious choices for our attention are variations in gravity, atmospheric pressure and gas ratios, and solar radiation levels.

If we consider Mars as our template, because of its relative suitability for colonization, then we must compensate for two-thirds less gravity than Earth. A lack of gravity results in a number of ill effects on human health, including a decrease in bone mass and density over time, particularly in the large bones of the lower extremities, as well as the spine. While we do not have research showing the impact of living on a planet with one-third Earths gravity, we do know that we can expect losses in bone density somewhere under 1-2 percent per month, the amount lost in the microgravity environment of space.

For comparison, the elderly lose 1-1.5 percent per month in Earth gravity. Atmospheric pressure that is either too high or too low also results in complications; low atmospheric pressure results in less oxygen available and causes altitude sickness and possible death. Radiation levels from the sun are another variable that is well known to have upper and lower thresholds for optimal human health, where low levels can lead to vitamin D deficiency and high levels increase cell death and cancer.

It would stand to reason that the human body has a minimum threshold for healthy physiology as regards the environment in which it grows, develops and lives. To colonize other planets successfully, we must consider solutions to overcome these thresholds; for example: prostheses, domed colonies recreating an ideal or near ideal environment, or, as this author suggests, the permanent genetic alteration of humanity as a species. This applies to our four chosen variables of gravitational forces, atmospheric pressure, atmospheric gas ratios, and solar radiation levels. While science fiction might have us consider surgical and biomedical prostheses or the more far-fetched use of animal DNA to change ourselves for this purpose, the key to human adaptation for other planets lies in our own genetics and it may well be CRISPR, the use of the enzyme Cas9 for introduction of altered DNA sequences or CRISPRs to existing cells to change how those cells function, that will make this possible.

Human genetic variation provides a veritable treasure trove of adaptations if one looks at the less common but heritable variations that on Earth may seem irrelevant, nonessential, or even maladaptive, but on another planet could be essential to survival. One example of a gene that, with engineering, could help humanity adapt to higher or lower gravity is the LRP5 gene. Recent research into the LRP5 gene shows that mutations of the gene are responsible for both low bone density and elevated bone density in the case of the later, from increased bone formation. A family of individuals in Nebraska carrying the mutation for elevated bone density have never experienced broken bones even well into old age. A whole colony of such individuals or ones engineered to enhance this mutation further could be expected to fare much better during prolonged space travel in zero gravity as well as in the low gravity environment on a planet like Mars.

While an atmospheric pressure and gas makeup very similar to Earths would be required for humans to survive and thrive outside of a spacesuit, Nepals Sherpas, high altitude dwellers in Ethiopia, and the Collas people in the Central Andes , as well as the deep sea divers of Bajau, may provide a solution to living on planets with differences in atmospheric pressure and oxygen availability. The three groups of high-altitude dwellers appear to have separate adaptations for thriving in low oxygen environments. Recent research indicates that there are genetic mutations in each of these groups. Sherpas mutations allow for more efficient use of available oxygen and resistance to ill effects from hypoxia.

Sherpas experience less of an increase in red blood cells than others and therefore avoid the ill-effects caused, such as edema and brain swelling. Sherpas instead have mitochondria in their cells that make more efficient use of the available oxygen, as well as having more efficient anaerobic metabolism in the absence of oxygen. The Collas show genetic differences in genes that control heart morphology, as well as cerebral vascular flow, as a means to withstand an elevated hematocrit in response to high altitude living. The Amhara people living in high altitudes in Ethiopia unlike the Sherpas do have lower oxygen saturation and higher hemoglobin levels compared to lowland dwellers in the region.

Research has yet to determine what adaptation favors the Amhara, but several genes that may play a role have been isolated. Another group, the Bajau of Thailand, may have complementary genetic variations that help them resist hypoxia and survive the high pressures of deep sea diving. Researchers found them to have 50% larger spleens and also a gene, PDE10A, that controls a thyroid hormone thought to affect spleen size. Capitalizing on any of these genetic features would improve our ability to survive with a lower oxygen content atmosphere, perhaps on a newly terraformed Mars or under domes with oxygen rationing.

While we cannot yet determine how comparable an atmosphere we can create on Mars, it stands to reason that achieving an exact replica atmosphere to Earths could be difficult. An atmosphere that lets in less radiation could impede our production of vitamin D, while a thinner atmosphere would admit an excess of radiation. Vitamin D deficiency could perhaps be handled by supplementation, or instead addressed by increasing our cells response to ultraviolet light to increase vitamin D synthesis. On the other side of the coin, a thinner atmosphere opens us up to higher UVR, which would result in higher rates of skin cancer.

It would stand to reason that, while skin pigmentation has high cultural and historical significance, it could make our species more suitable for colonization of high radiation planets; darker skin with larger melanocytes that react proactively to UVA and UVB radiation through tanning and higher antioxidant and free-radical counteraction would be protective and provide an advantage if we are to branch out into our solar system and beyond. At the same time, this solution poses the problem of vitamin D production.

The answer could lie in isolating and using the genes responsible for East Asian populations lower skin pigmentation coupled with lower skin cancer rates than European populations. A study headed by Pennsylvania university has isolated gene mutations responsible for skin pigmentation differences, SLC24A5, MFSD12, OCA2, and HERC2, by studying African, South Asian Indian, and Australo-Melanesian populations, some of which are associated with vitiligo and a form of albinism common in African populations. These mutations that confer higher vitamin D production to Europeans are not present in East Asians, indicating a different mutation responsible, and, while both populations have higher vitamin D production than African populations, Europeans have a 10-20 percent higher rate of cancer than both Africans and East Asians. Further research into these genes could provide targets for CRISPR to modify the protective factors in our skin without sacrificing vitamin D production of potential colonists.

The question remains: is CRISPR a feasible route to including some of these adaptations to create a new, more suitable colonist? To answer this question we look at the current status of CRISPR research.

While some experiments using CRISPR gene editing were conducted in the technologys infancy, including the controversial creation of twin girls in China designed to be resistant to HIV, we are still quite a bit of research away from using CRISPR with high success rates and full confidence, especially considering the repercussions of rushing into human trials, including the death of trial participants and long-term side-effects of cancer, both of which have occurred in gene-therapy trials.

According to information revealed by the FDA and NIH, 691 trial volunteers died in gene-editing trials prior to the tragic and high-profile death of Jesse Gelsinger in a 1999 trial to treat his OTCD, a rare metabolic disorder. The death was blamed on ethical oversights and a rush to make gene editing pan out before it was ready. The result was a long period of gene-editing fear and oversight but also, in the case of James Wilson, director of the University of Pennsylvanias Institute for Human Gene Therapy responsible for the trials that led to Gelsingers death, greater caution in research methodology. He has put safety at the forefront of his research and asserts that even still the risks of gene editing with CRISPR and other methods brings enough risk to justify human trials only for those diseases that are severe and debilitating enough for patients to accept the risks of gene editing.

What does all this mean for our hypothetical future of using CRISPR to edit the DNA of human colonists for space colonization? Is the technology too far off to serve our purpose or fraught with too much risk? Is it beyond our knowledge and skill to accomplish? The answer to each of these questions is undoubtedly, no.

Weve had too much success in treating complex genetic conditions, like the creation of an immune system for Ashanthi Desilva born with severe combined immunodeficiency (SCVID). Weve unlocked too many keys to making gene therapy safer and more effective to discount the possibility of future use for the advancement of our species into harsher environments. While subsequent uses of gene therapy for SCVID resulted in development of Leukemia years later, further advancements in the research have revealed the need to find the best delivery system for each body system. Adeno-associated viruses, and lentiviruses are being looked at in place of the more aggressive adenovirus or retroviruses for delivery of DNA segments both of which are less likely to provoke an immune response and less likely to trigger cell death by way of the B35 gene in healthy cells, and later cancer.

Regardless of the work ahead and the bumpy road that gene therapy has traveled, vast potential remains at our fingertips whether it is through use of CRISPR or future gene therapy tools. It is a sure eventuality that we will one day have these skills at the ready to spread our species into other worlds, well-equipped to survive and thrive in harsher environments.

Cherrie Newman is a writer and student of human reproduction and biological sciences. She is the author of a science fiction novel series entitled Progeny under the pseudonym CL Fors. Follow her on her blogor on Twitter @clfors

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Building 'better' astronauts through genetic engineering could be key to colonizing other planets - Genetic Literacy Project