Category Archives: Transhuman News

BETHESDA, MD - The Genetics Society of America (GSA) is pleased to announce that Louisa A. Stark, PhD (University of Utah) has been awarded the Society's Elizabeth W. Jones Award for Excellence in Education in recognition of her significant and sustained impact in genetics education. The award, whose namesake was a renowned geneticist and educator, honors the remarkable advances in global access to genetics education enabled by Dr. Stark's work.

"Dr. Stark has pioneered innovative approaches and resources that have transformed the accessibility of genetics education," said Robin Wright, PhD, Head of the Department of Biology Teaching and Learning, Professor in the Department of Genetics, Cell Biology and Development, and Senior Associate Dean for Undergraduate Initiatives in the College of Biological Sciences at the University of Minnesota, and last year's winner of the Elizabeth W. Jones Award. "Her work will undoubtedly continue to inspire teachers and students for years to come."

Dr. Stark has had a major impact on improving genetics literacy worldwide. She has 20 years of experience in planning and teaching professional development programs for K-12 teachers. The University of Utah Genetic Science Learning Center, which she directs, excels at developing interactive, multimedia materials that focus on making genetics easy for everyone to understand. These materials are freely disseminated via the Center's Learn.Genetics and Teach.Genetics websites. The sites constitute the most widely-used online genetics education resource in the world. In 2014, they were visited by almost 20 million students, educators, scientists, and members of the public who came from every country. With over 80 million page views annually, Learn.Genetics is among the most used sites on the Web. In 2010, the sites received the first award of the Science Prize for Online Resources in Education from AAAS/Science Magazine. Stark's work also has been recognized by awards from the American Society of Human Genetics, the governor of Utah, the National Association of Biology Teachers, and the Utah Science Teachers Association.

The Elizabeth W. Jones Award for Excellence in Education recognizes significant and sustained impact on genetics education. Recipients of the award have promoted greater exposure to and deeper understanding of genetics through distinguished teaching or mentoring, development of innovative pedagogical approaches or tools, design of new courses or curricula, national leadership, and/or public engagement and outreach.

The award was named posthumously for Elizabeth W. Jones (1939-2008), the recipient of the first GSA Excellence in Education Award in 2007. She was a renowned geneticist and educator who served as the 1987 GSA president and as Editor-in-Chief of GSA's journal GENETICS for almost 12 years (1996-2008).

To learn more about the GSA awards, and to view a list of previous recipients, please see http://www.genetics-gsa.org/awards.

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About the Genetics Society of America (GSA)

Founded in 1931, the Genetics Society of America (GSA) is the professional scientific society for genetics researchers and educators. The Society's more than 5,000 members worldwide work to deepen our understanding of the living world by advancing the field of genetics, from the molecular to the population level. GSA promotes research and fosters communication through a number of GSA-sponsored conferences including regular meetings that focus on particular model organisms. GSA publishes two peer-reviewed, peer-edited scholarly journals: GENETICS, which has published high quality original research across the breadth of the field since 1916, and G3: Genes|Genomes|Genetics, an open-access journal launched in 2011 to disseminate high quality foundational research in genetics and genomics. The Society also has a deep commitment to education and fostering the next generation of scholars in the field. For more information about GSA, please visit http://www.genetics-gsa.org.

9650 Rockville Pike | Bethesda, MD 20814 | 301.634.7300 | press@genetics-gsa.org">press@genetics-gsa.org | http://www.genetics-gsa.orgConnect with GSA on Twitter (@GeneticsGSA) | Facebook LinkedIn | Google+

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Genetics Society of America names Louisa Stark as recipient of Elizabeth W. Jones Award

Science has helped us understand how blue eyes or baldness as well as other inherited traits both harmless and harmful can run in a family. In the past few decades, largely due to the Human Genome Project and other scientific endeavors, knowledge has exploded in the field of human genetics.

Genetic services available in New Jersey include direct clinical care services as well as activities such as screening programs and laboratory services, educational activities and birth defects surveillance. The State of New Jersey partially funds a network of Genetic Centers [see the list at bottom of page] that provide testing, diagnosis, and ongoing management and comprehensive care of genetic conditions. Physicians specially trained in medical genetics, along with genetic counselors, nurses, social workers and other medical specialists provide comprehensive care to patients with genetic concerns.

Services may include some or all of the following: a review of your family and medical history; physical examination; laboratory testing; genetic counseling/education; and management or referral to other specialists experienced in treating or managing rare disorders. These services can provide information on certain disorders that you or your child may have inherited, how genetic conditions may be passed from one generation to another in a family, and what the risks are that certain conditions will affect you, your present or future pregnancies, or other members of your family.

Genetic counseling translates the science of genetics into practical information. Anyone who has unanswered questions about diseases or traits in their family should consider genetic counseling. People who might be especially interested are:

Resources:

American College of Medical Genetics (ACMG) http://www.acmg.net

Genetic Alliance http://www.geneticalliance.org/

Genetics Home Reference http://ghr.nlm.nih.gov/

Human Genetics Association of New Jersey (HGANJ) http://www.hganj.org

National Newborn Screening & Genetic Resource Center (NNSGRC) http://genes-r-us.uthscsa.edu/

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NJDOH - New Born Screening & Genetic Services

ATLANTA--Five genetic variants that influence the size of structures within the human brain have been discovered by an international team that included a Georgia State University researcher.

Their findings were reported this week in the journal Nature.

In the study led by Drs. Sarah Medland, Margie Wright, Nick Martin and Paul Thompson of the QIMR Berghofer Medical Research Institute in Australia, nearly 300 researchers analyzed genetic data and magnetic resonance imaging (MRI) scans from 30,717 individuals from around the world. They evaluated genetic data from seven subcortical brain regions (nucleus accumbens, caudate, putamen, pallidum, amygdala, hippocampus and thalamus) and intracranial volume from MRI scans.

This is the largest analysis of brain structure and genetics ever done, said Dr. Jessica Turner, associate professor of psychology and neuroscience at Georgia State, who organized some of the teams collecting and evaluating data from participants with schizophrenia.

The goal was to determine how common genetic variants affect the structure of these seven subcortical brain regions, which are associated with memory, movement, learning and motivation. Changes in these brain areas can lead to abnormal behavior and predisposition to disease.

Previous research has shown the brain's structure is strongly shaped by genetic influences. Identifying genetic variants could provide insight into the causes for variation in human brain development and help to determine how dysfunction in the brain occurs.

"The team looked at several million base pairs or locations on the human genome," Turner said. "Through a large-scale, international data sharing and data-analysis-sharing effort, we were able to actually successfully identify genetic effects on the hippocampus, putamen and other brain regions that no one had ever successfully identified genetics effects on before."

The researchers discovered five new genetic variants that influenced the volumes of the putamen and caudate nucleus. They also found stronger evidence for three locations in the genome that influence the size of the hippocampus and intracranial areas of the brain. The strongest genetic effects were observed for the putamen.

"Those are brain regions," Turner said, "that we know are involved in various psychiatric and neurodegenerative disorders. In trying to figure out the genetics that make them either larger or smaller, it could have great benefits for understanding mechanisms of these disorders."

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Researchers discover genetic links to size of brain structures

A single gene that coordinates a network of about 400 genes involved in epilepsy could be a target for new treatments, according to research.

Epilepsy is a common and serious disease that affects around 50 million people worldwide. The mortality rate among people with epilepsy is two to three times higher than the general population. It is known that epilepsy has a strong genetic component, but the risk is related to multiple factors that are 'spread' over hundreds of genes. Identifying how these genes are co-ordinated in the brain is important in the search for new anti-epilepsy medications. This requires approaches that can analyse how multiple genes work in concert to cause disease.

Instead of studying individual genes, which has been the usual approach in epilepsy to date, researchers from Imperial College London developed novel computational and genetics techniques to systematically analyse the activity of genes in epilepsy. Published in Nature Communications, the study is the first to apply this 'systems genetics' approach to epilepsy.

The researchers studied samples of brain tissue removed from patients during neurosurgery for their epilepsy. Starting from these samples, they identified a gene network that was highly active in the brain of these patients, and then discovered that an unconnected gene, Sestrin 3 (SESN3), acts as a major regulator of this epileptic gene network. This is the first time SESN3 has been implicated in epilepsy and its co-ordinating role was confirmed in studies with mice and zebrafish.

Dr Enrico Petretto, from the Medical Research Council (MRC) Clinical Sciences Centre at Imperial College London and co-senior author of the study, said: "Systems genetics allows us to understand how multiple genes work together, which is far more effective than looking at the effect of a gene in isolation. It's a bit like trying to tackle a rival football team. If you want to stop the team from playing well, you can't just target an individual player; you first need to understand how the team plays together and their strategy. Likewise in systems genetics we don't look at just one gene at a time, but a network or team of genes and the functional relationships between them in disease.

"After understanding how the team plays together, a possible approach to beating a strong side is then to identify a major control point- say the captain or the coach - who co-ordinates the players. This is like our 'master regulator gene', which in this case is SESN3. If we can develop medication to target this gene in the brain, then the hope is that we could influence the whole epileptic gene network rather than individual parts and in turn achieve more effective treatments."

Using surgical samples of brain tissue provides a unique opportunity to study how genes are coordinated in the brains of people with epilepsy. Patients with severe temporal lobe epilepsy who do not respond to medication can undergo surgery to remove part of the brain to relieve their seizures. Our research was able to use brain tissue samples donated by 129 patients to analyse the genetic and functional activity underlying their epilepsy.

Co-senior author of the paper, Dr Michael Johnson from Imperial's Department of Medicine, said: "This study is proof-of-concept for a new scientific approach in epilepsy. Existing epilepsy medications are symptomatic treatments only; that is they act to supress the seizures but they don't treat the underlying disease.

Consequently, we find that existing medications don't work in about one-third of people with epilepsy. Here we have taken a new approach, and identified a network of genes underlying the epilepsy itself in these patients and mapped its control to a single gene, SESN3. This offers hope that new disease-modifying therapies can be developed for the treatment of epilepsy itself.

"Imperial has pioneered the systems genetics approach to common human disease and by applying its specialism in epilepsy and working in collaboration with pharmaceutical companies and other institutes worldwide, we have identified SESN3 as a new 'master regulatory' gene of key inflammatory processes in the brain that could be a potential target for new and more effective treatments."

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New 'systems genetics' study identifies possible target for epilepsy treatment