Newswise BETHESDA, MD May 30, 2012 The Genetics Society of America (GSA) is pleased to announce the selection of six graduate students and seven postdoctoral researchers as recipients of the DeLill Nasser Awards for Professional Development in Genetics. Each of these early-career geneticists receives a $1,000 travel award to attend a national or international meeting or to enroll in a laboratory course of their choice that will enhance their career.

These awards are named in honor of DeLill Nasser (1929-2000), a long-time GSA member who was instrumental in promoting genetics research, championing the genome sequencing of Arabidopsis and research in Drosophila during her 22 years with the National Science Foundation. She was particularly supportive of young scientists, those at the beginning of their careers, and those trying to open new areas of genetic inquiry.

GSA Executive Director Adam Fagen, PhD, said we are honored to support the future of genetics through these awards, especially in recognizing an individual who played such an important role in guiding the discipline and ensuring its continued vitality. There are no more important investments we can make than in the graduate students and postdoctoral researchers who will be leaders in genetics in the decades to come.

The six graduate student recipients and the meetings they will attend are:

Guangbo Chen (Stowers Institute for Medical Research, Kansas City, MO), Experimental Approaches to Evolution and Ecology using Yeast Meeting, October 17-21, 2012, EMBL Heidelberg, Germany.

Kathleen J. Dumas (University of Michigan, Ann Arbor), Keystone Meeting on Aging and Disease of Aging, October 22-27, 2012, in Tokyo, Japan.

Michael Eastwood (University of Toronto, Ontario, Canada), GSA Yeast Genetics and Molecular Biology Meeting, July 31-August 5, 2012, Princeton, NJ.

Erik Lehnert (Stanford University, CA), International Coral Reef Symposium, July 9-15, 2012, Cairns, Australia.

Xin Li (Vanderbilt University, Nashville, TN), 10th International Conference on Zebrafish Development and Genetics, June 20-24, 2012, Madison, WI.

Daniel P. Rice (Harvard University, Boston, MA), First Joint Congress on Evolutionary Biology, July 6-10, 2012, Ottawa, Canada.

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Genetics Society of America Announces Travel Award Winners

Jay A. Tischfield, director of the Human Genetics Institute of New Jersey at Rutgers University, will use a $2.4 million grant to determine whether there is a genetic predisposition to mental-health disorders that can help decrease the risk of suicide and post-traumatic stress disorder in U.S. soldiers.

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Rutgers receives $2.4M to study military suicide

BETHESDA, Md., May 30, 2012 /PRNewswire-USNewswire/ -- After a career that spanned nearly half a century, Dr. David L. Rimoin, founding president of ACMG and in many ways the founder of one of the most fast-paced specialties in modern clinical medicine, passed away on Sunday May 27, 2012 in Los Angeles of pancreatic cancer, which had only been diagnosed a few days before.

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American College of Medical Genetics and Genomics (ACMG) Mourns the Loss of Founding President and Genetics Pioneer ...

IntegenX has appointed David Smith to serve as its new COO. Smith most recently served as CFO of Thoratec, and previous to that was CFO at Chiron. He currently is chair of the audit committee and a director of OncoGenex Pharmaceuticals and previously was chair of the audit committee and a director of Perlegen Sciences.

Vermillion said this week that President and CEO Gail Page will be leaving the company by September and the firm has begun the process to find her successor. Page also has resigned her seat on the board of directors, and effective immediately Vermillion amended its bylaws to eliminate the vacant seat, reducing its board from seven to six members.

Genomic Health has appointed Richard Tompane as president of its new subsidiary InVitae, which will focus on developing next-generation-based sequencing diagnostics for genetic diseases. Tompane was previously president and CEO of Gemfire and has also served as an independent consultant.

Read this article:

Studies Explore Genetics Behind Hepatitis B and C Virus-Associated Liver Cancers

Obituaries

May 28, 2012

Dr. David Rimoin

Dr. David Rimoin, a pioneering physician and researcher in the field of medical genetics, died May 27, 2012 at the age of 76.

Dr. Rimoin succumbed after a private battle with pancreatic cancer.

Colleagues and friends, many of whom were not aware of his sudden diagnosis, reacted with shock.

We have lost a giant in the field of medicine, said an official statement from the Cedars Sinai board of directors. His medical contributions will continue to bring healing for generations.

Dr. Rimoin held the Steven Spielberg Family Chair in Pediatrics and was Director of the Medical Genetics Institute at Cedars Sinai Medical Center. He was also Professor of Pediatrics, Medicine and Human Genetics at the David Geffen School of Medicine at UCLA. At Cedars, he conducted groundbreaking research into dwarfism and skeletal dysplasia. His 1970 demonstration that diabetes mellitus was the reflection of multiple genetic variants laid the foundation for the field of common disease genetics. His 1983 textbook, Emery and Rimoins Principles and Practice of Medical Genetics remains a classic in the field. Dr. Rimoin published over 400 articles in peer-reviewed journals.

David Rimoin was born in 1936 in Montreal, Canada. He earned his PhD from McGill Medical School in 1961, and received his PhD in human genetics in 1967 from Johns Hopkins.

In 1970 he arrived in LA, where he built the division of human genetics first at Harbor-UCLA Medical Center, then at Cedars Sinai.

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Dr. David Rimoin, pioneering geneticist, dies at 76

IntegenX has appointed David Smith to serve as its new COO. Smith most recently served as CFO of Thoratec, and previous to that was CFO at Chiron. He currently is chair of the audit committee and a director of OncoGenex Pharmaceuticals and previously was chair of the audit committee and a director of Perlegen Sciences.

Vermillion said this week that President and CEO Gail Page will be leaving the company by September and the firm has begun the process to find her successor. Page also has resigned her seat on the board of directors, and effective immediately Vermillion amended its bylaws to eliminate the vacant seat, reducing its board from seven to six members.

Genomic Health has appointed Richard Tompane as president of its new subsidiary InVitae, which will focus on developing next-generation-based sequencing diagnostics for genetic diseases. Tompane was previously president and CEO of Gemfire and has also served as an independent consultant.

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PCGP Releases Genome Sequence Data for Hundreds of Tumor-Normal Pairs

IntegenX has appointed David Smith to serve as its new COO. Smith most recently served as CFO of Thoratec, and previous to that was CFO at Chiron. He currently is chair of the audit committee and a director of OncoGenex Pharmaceuticals and previously was chair of the audit committee and a director of Perlegen Sciences.

Vermillion said this week that President and CEO Gail Page will be leaving the company by September and the firm has begun the process to find her successor. Page also has resigned her seat on the board of directors, and effective immediately Vermillion amended its bylaws to eliminate the vacant seat, reducing its board from seven to six members.

Genomic Health has appointed Richard Tompane as president of its new subsidiary InVitae, which will focus on developing next-generation-based sequencing diagnostics for genetic diseases. Tompane was previously president and CEO of Gemfire and has also served as an independent consultant.

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William Blair Downgrades Complete Genomics

MEMPHIS, Tenn., May 29, 2012 /PRNewswire/ -- To speed progress against cancer and other diseases, the St. Jude Children's Research Hospital Washington University Pediatric Cancer Genome Project today announced the largest-ever release of comprehensive human cancer genome data for free access by the global scientific community. The amount of information released more than doubles the volume of high-coverage, whole genome data currently available from all human genome sources combined. This information is valuable not just to cancer researchers, but also to scientists studying almost any disease.

To view the multimedia assets, please click: http://www.multivu.com/mnr/52993-st-jude-childrens-research-hospital-comprehensive-human-cancer-genome-data

The release of this data was announced as a part of a perspective published in Nature Genetics online May 29.

The 520 genome sequences released today are matched sets of normal and tumor tissue samples from 260 pediatric cancer patients. The Pediatric Cancer Genome Project is expected to sequence more than 1,200 genomes by year's end. Each sample is sequenced at a quality control level known as 30-fold coverage, ensuring maximum accuracy. St. Jude researchers are analyzing the genomic sequences to determine the differences between each child's normal and cancerous cells to pinpoint the causes of more than a half-dozen of the most deadly childhood cancers, an effort which has already produced a number of key discoveries reported in top scientific journals.

"This effort has generated more discoveries than we thought possible," said James Downing, M.D., St. Jude scientific director who leads the project at St. Jude. "We want to make this information available to the broader scientific community so that, collectively, we can explore new treatment options for these children. By sharing the information even before we analyze it ourselves, we're hoping that other researchers can use this rich resource for insights into many other types of diseases in children and adults."

Launched in early 2010, the Pediatric Cancer Genome Project is the world's largest effort and investment to date to understand the genetic origins of childhood cancers. The three-year project will cost an estimated $65 million. St. Jude is covering $55 million of the cost, including a $20 million commitment from Kay Jewelers, a long-standing partner of St. Jude. This is the first major privately funded human genome sequencing project to share its data as soon as it becomes available. To date, this type of open access has largely been restricted to government-funded efforts.Non-government efforts are typically treated as proprietary.

"Setting this precedent reflects a commitment to freely sharing information that has been a hallmark of St. Jude since we opened our doors 50 years ago," said Dr. William E. Evans, St. Jude director and CEO. "The Pediatric Cancer Genome Project is a one-of-a-kind effort, so the information has the potential to accelerate disease research worldwide."

Researchers worldwide will be able to access the sequence data via the Web-based European Genome-Phenome Archive, which provides large datasets for free access by researchers on request: http://www.ebi.ac.uk/ega/organisations/EGAO00000000046.

While most cancer genome initiatives focus only on genes, which make up a small portion of the genome, the Pediatric Cancer Genome Project researchers have taken a different approach. They are sequencing the entire genome all the DNA in each patient's tumor. This provides a richer, more complete picture of the DNA changes underlying the development and progression of each patient's disease.

"This approach has been more valuable that anyone could have predicted," said Richard K. Wilson, Ph.D., director of The Genome Institute at Washington University School of Medicine in St. Louis. "We have identified unusual, 'cryptic' changes in many patients' cancer cells that we would not have found using other methods. We are pleased to be able to share this data with the research community in hopes that others can build upon our initial discoveries."

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World's Largest Release Of Comprehensive Human Cancer Genome Data Helps Researchers Everywhere Speed Discoveries

IntegenX has appointed David Smith to serve as its new COO. Smith most recently served as CFO of Thoratec, and previous to that was CFO at Chiron. He currently is chair of the audit committee and a director of OncoGenex Pharmaceuticals and previously was chair of the audit committee and a director of Perlegen Sciences.

Vermillion said this week that President and CEO Gail Page will be leaving the company by September and the firm has begun the process to find her successor. Page also has resigned her seat on the board of directors, and effective immediately Vermillion amended its bylaws to eliminate the vacant seat, reducing its board from seven to six members.

Genomic Health has appointed Richard Tompane as president of its new subsidiary InVitae, which will focus on developing next-generation-based sequencing diagnostics for genetic diseases. Tompane was previously president and CEO of Gemfire and has also served as an independent consultant.

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Population Genetics Gets Funding under International Leukemia Study

In a paper published online in advance in Translational Psychiatry, a team led by researchers at nonprofit institute SRI International shows in a GWAS meta-analysis that a non-coding SNP on chromosome 15q25.1 is associated with smoking quantity as measured by cigarettes per day in African Americans. In their paper, members of the Study of Tobacco in Minority Populations Genetics Consortium say that this variant "is present in the 5'-distal enhancer region of the CHRNA5 gene," and that additional, informative associations at 15q25.1 within PSMA4, CHRNA5, and CHRNA3 approached, but did not reach, genome-wide significance for smoking quantity. These additional SNPs "are associated with a second signal previously reported in studies in European ancestry populations," the team says.

Overall, the authors write, larger studies are needed to validate the suggestive loci "and further elucidate the contribution of genetic variation to disparities in cigarette consumption, SC [smoking cessation], and smoking-attributable disease between African Americans and European Americans."

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Ethnicity and the Genetics of Smoking Behavior

Public release date: 27-May-2012 [ | E-mail | Share ]

Contact: Elaine Schmidt eschmidt@mednet.ucla.edu 310-794-2272 University of California - Los Angeles Health Sciences

The Caterpillar got down off the mushroom and crawled away in the grass, remarking as it went, 'One side will make you grow taller, and the other side will make you grow shorter.' -Alice's Adventures in Wonderland, by Lewis Carroll

UCLA geneticists have identified the mutation responsible for IMAGe syndrome, a rare disorder that stunts infants' growth. The twist? The mutation occurs on the same gene that causes Beckwith-Wiedemann syndrome, which makes cells grow too fast, leading to very large children.

Published in the May 27 edition of Nature Genetics, the UCLA findings could lead to new ways of blocking the rapid cell division that allows tumors to grow unchecked. The discovery also offers a new tool for diagnosing children with IMAGe syndrome, which until now has been difficult to accurately identify.

The discovery holds special significance for principal investigator Dr. Eric Vilain, a professor of human genetics, pediatrics and urology at the David Geffen School of Medicine at UCLA.

Nearly 20 years ago, as a medical resident in his native France, Vilain cared for two boys, ages 3 and 6, who were dramatically short for their ages. Though unrelated, both children shared a mysterious malady marked by minimal fetal development, stunted bone growth, sluggish adrenal glands, and undersized organs and genitals.

"I never found a reason to explain these patients' unusual set of symptoms," explained Vilain, who is also director of the UCLA Institute for Society and Genetics. "I've been searching for the cause of their disease since 1993."

When Vilain joined UCLA as a genetics fellow, the two cases continued to intrigue him. His mentor, then UCLA geneticist Dr. Edward McCabe, recalled a similar case from his previous post at Baylor College of Medicine. The two of them obtained blood samples from the three cases and analyzed the patients' DNA for mutations in suspect genes, but uncovered nothing.

Vilain and McCabe approached the Journal of Clinical Endocrinology and Metabolism, and in 1999 published the first description of the syndrome, which they dubbed IMAGe, an acronym of sorts for the condition's symptoms: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia and genital anomalies.

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Same gene that stunts infants' growth also makes them grow too big

ScienceDaily (May 27, 2012) UCLA geneticists have identified the mutation responsible for IMAGe syndrome, a rare disorder that stunts infants' growth. The twist? The mutation occurs on the same gene that causes Beckwith-Wiedemann syndrome, which makes cells grow too fast, leading to very large children.

Published in the May 27 edition of Nature Genetics, the UCLA findings could lead to new ways of blocking the rapid cell division that allows tumors to grow unchecked. The discovery also offers a new tool for diagnosing children with IMAGe syndrome, which until now has been difficult to accurately identify.

The discovery holds special significance for principal investigator Dr. Eric Vilain, a professor of human genetics, pediatrics and urology at the David Geffen School of Medicine at UCLA.

Nearly 20 years ago, as a medical resident in his native France, Vilain cared for two boys, ages 3 and 6, who were dramatically short for their ages. Though unrelated, both children shared a mysterious malady marked by minimal fetal development, stunted bone growth, sluggish adrenal glands, and undersized organs and genitals.

"I never found a reason to explain these patients' unusual set of symptoms," explained Vilain, who is also director of the UCLA Institute for Society and Genetics. "I've been searching for the cause of their disease since 1993."

When Vilain joined UCLA as a genetics fellow, the two cases continued to intrigue him. His mentor, then UCLA geneticist Dr. Edward McCabe, recalled a similar case from his previous post at Baylor College of Medicine. The two of them obtained blood samples from the three cases and analyzed the patients' DNA for mutations in suspect genes, but uncovered nothing.

Vilain and McCabe approached the Journal of Clinical Endocrinology and Metabolism, and in 1999 published the first description of the syndrome, which they dubbed IMAGe, an acronym of sorts for the condition's symptoms: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia and genital anomalies.

Over the next decade, about 20 cases were reported around the world. But the cause of IMAGe syndrome remained a mystery.

Help arrived unexpectedly last year when Vilain received an email from Argentinian physician Dr. Ignacio Bergada, who had unearthed the 1999 journal article. He told Vilain about a large family he was treating in which eight members suffered the same symptoms described in the study. All of the family members agreed to send their DNA samples to UCLA for study.

Vilain realized that he had stumbled across the scientific equivalent of winning the lottery. He assembled a team of UCLA researchers to partner with Bergada and London endocrinologist Dr. John Achermann.

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Disease that stunts infants' growth traced to same gene that makes kids grow too fast

Genes in charge of making sperm cells may be the key to understanding male infertility and even developing male contraception, two new studies indicate.

Link:

Infertility Genes Could Lead to Male Contraception

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Posted May 24, 2012

David Altshuler

CAMBRIDGE, Mass.--Vertex Pharmaceuticals Incorporated (Nasdaq: VRTX) announced that David Altshuler, M.D., Ph.D., joined its board of directors as an independent director. Dr. Altshuler was appointed to the class of directors whose term expires in 2015. With the addition of Dr. Altshuler, the Vertex board consists of 9 members.

"David's unique scientific experience with human genetics coupled with his background as a practicing physician will provide our board with strong scientific and medical direction as we both advance our broad pipeline of later-stage medicines and focus on early-stage research activities," said Jeffrey Leiden, M.D., Ph.D., Chair, President and Chief Executive Officer of Vertex. "I welcome David to our board and look forward to his contributions at this exciting time for our company."

Dr. Altshuler is a Professor of Genetics and Medicine at Harvard Medical School, where he has served on the faculty since 2000. He is also one of the four founding members of the Broad Institute of Harvard University and the Massachusetts Institute of Technology. Trained as a clinical endocrinologist and a human geneticist, Dr. Altshuler's clinical work is focused on characterizing patterns of variation in human genetics and applying this information to help isolate the genetic contribution to common diseases, including type 2 diabetes, cardiovascular disease and cancer.

Through his work with multiple public-private partnerships, including the SNP Consortium, the International Haplotype Map Project and the 1000 Genomes Project, Dr. Altshuler has helped further the scientific community's understanding of DNA sequence variation in the human genome and its contribution to the development of specific diseases. At the Broad Institute, he has directed its Program in Medical and Population Genetics since 2003 and has served as Chief Academic Officer since 2009. He is also on the faculty of Massachusetts General Hospital's Department of Molecular Biology, the Diabetes Unit of the Department of Medicine and the Center for Human Genetic Research.

Dr. Altshuler has received numerous awards for his research and clinical activities related to human genetics, including the Stephen Krane Award from Massachusetts General Hospital, which recognized him as the Department of Medicine's top young investigator, the 2011 Curt Stern Award of the American Society of Human Genetics given for outstanding scientific achievements in the last 10 years and the Richard and Susan Smith Pinnacle Award of the American Diabetes Association, which recognized his research into the contributing genetic cause of diabetes. He is a member of the American Society for Clinical Investigation, the Association of American Physicians and the US Institute of Medicine. In 2010, Dr. Altshuler was elected to the Board of Directors of the American Society of Human Genetics. He has served on advisory boards for many leading institutions, government organizations and nonprofit foundations, including The National Institutes of Health, The Doris Duke Charitable Foundation, The Juvenile Diabetes Research Foundation, The Wellcome Trust and Merck Research Laboratories.

Dr. Altshuler received his B.S. from the Massachusetts Institute of Technology, a Ph.D. from Harvard University and his M.D. from Harvard Medical School. He completed his internship, residency and clinical fellowship training at Massachusetts General Hospital.

About Vertex

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Vertex Appoints Dr. David Altshuler to its Board

Public release date: 24-May-2012 [ | E-mail | Share ]

Contact: Lisa Lyons elyons@cell.com 617-386-2121 Cell Press

A new study has revealed previously undiscovered genetic variants that influence fertility in men. The findings, published by Cell Press on May 24th in the American Journal of Human Genetics, shed much-needed light on human reproduction and might provide answers for countless men suffering from infertility.

Despite its high incidence, infertility remains a sensitive topic. Some of the stigma surrounding infertility arises from a lack of known scientific causes. In fact, nearly a quarter of reported infertility cases remain unexplained. Research regarding the genetics of fertility has come primarily from studies involving infertile subjects. "Such studies have not been able to identify genes or pathways contributing to variation in natural human fertility," remarks Carole Ober, the lead author of the study. This is because numerous non-genetic factors, such as alcohol and tobacco use, certain medications, and disease history, can contribute to infertility.

Ober and her graduate student, Glm Kosova, at the University of Chicago have taken a different approach. By studying a founder population, the Hutterites, Ober's research maximizes genetic influences and minimizes non-genetic ones. The Hutterites are a branch of Anabaptists who conscribe to a common set of religious and social beliefs. "Hutterites [forbid] contraception and uniformly desire large families, providing an outstanding population in which to study the genetics of normal human fertility," explains Ober. Rather than studying infertile subjects, the team included Hutterite men who had one or more child, and it took both family size and birth rate into consideration.

The study uncovered more than 40 genetic regions that influence fertility in Hutterite men. Nine of these regions were additionally found to impact sperm quality in non-Hutterites. These regions harbor genes involved in several essential biological processes, including protein regulation, nucleotide binding, and immunity, and shed light on the complexity of human fertility. Ultimately, says Ober, further studies might find that mutations in these genes underlie some of the currently unexplained cases of male infertility.

###

AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert! system.

Excerpt from:

Male fertility genes discovered

CAMBRIDGE, Mass.--(BUSINESS WIRE)--

Vertex Pharmaceuticals Incorporated (VRTX) today announced that David Altshuler, M.D., Ph.D., joined its board of directors as an independent director. Dr. Altshuler was appointed to the class of directors whose term expires in 2015. With the addition of Dr. Altshuler, the Vertex board consists of 9 members.

Davids unique scientific experience with human genetics coupled with his background as a practicing physician will provide our board with strong scientific and medical direction as we both advance our broad pipeline of later-stage medicines and focus on early-stage research activities, said Jeffrey Leiden, M.D., Ph.D., Chair, President and Chief Executive Officer of Vertex. I welcome David to our board and look forward to his contributions at this exciting time for our company.

Dr. Altshuler is a Professor of Genetics and Medicine at Harvard Medical School, where he has served on the faculty since 2000. He is also one of the four founding members of the Broad Institute of Harvard University and the Massachusetts Institute of Technology. Trained as a clinical endocrinologist and a human geneticist, Dr. Altshulers clinical work is focused on characterizing patterns of variation in human genetics and applying this information to help isolate the genetic contribution to common diseases, including type 2 diabetes, cardiovascular disease and cancer.

Through his work with multiple public-private partnerships, including the SNP Consortium, the International Haplotype Map Project and the 1000 Genomes Project, Dr. Altshuler has helped further the scientific communitys understanding of DNA sequence variation in the human genome and its contribution to the development of specific diseases. At the Broad Institute, he has directed its Program in Medical and Population Genetics since 2003 and has served as Chief Academic Officer since 2009. He is also on the faculty of Massachusetts General Hospitals Department of Molecular Biology, the Diabetes Unit of the Department of Medicine and the Center for Human Genetic Research.

Dr. Altshuler has received numerous awards for his research and clinical activities related to human genetics, including the Stephen Krane Award from Massachusetts General Hospital, which recognized him as the Department of Medicines top young investigator, the 2011 Curt Stern Award of the American Society of Human Genetics given for outstanding scientific achievements in the last 10 years and the Richard and Susan Smith Pinnacle Award of the American Diabetes Association, which recognized his research into the contributing genetic cause of diabetes. He is a member of the American Society for Clinical Investigation, the Association of American Physicians and the US Institute of Medicine. In 2010, Dr. Altshuler was elected to the Board of Directors of the American Society of Human Genetics. He has served on advisory boards for many leading institutions, government organizations and nonprofit foundations, including The National Institutes of Health, The Doris Duke Charitable Foundation, The Juvenile Diabetes Research Foundation, The Wellcome Trust and Merck Research Laboratories.

Dr. Altshuler received his B.S. from the Massachusetts Institute of Technology, a Ph.D. from Harvard University and his M.D. from Harvard Medical School. He completed his internship, residency and clinical fellowship training at Massachusetts General Hospital.

About Vertex

Vertex creates new possibilities in medicine. Our team discovers, develops and commercializes innovative therapies so people with serious diseases can lead better lives.

Vertex scientists and our collaborators are working on new medicines to cure or significantly advance the treatment of hepatitis C, cystic fibrosis, rheumatoid arthritis, epilepsy and other life-threatening diseases.

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Vertex Appoints David Altshuler, M.D., Ph.D., to its Board of Directors

by Floyd County Schools reports Rn T.Com

With small class sizes, the highly-selective courses in the Duke program are very competitive with limited availability. Just to be eligibility for enrollment is an honor and indicates the student has exhibited outstanding intellectual ability and dedication to academics. Duke TIP provides participants with an exciting, stimulating and challenging opportunity to augment their interests and capabilities. Through a variety of experiential activities, lab work, discussions, fieldwork, collaboration, presentations, and the use of advanced technology and lab equipment, participants in the genetics program will delve into cutting-edge human genetic research. Topics included in the program are: human gene expression, pharmacogenomics, and epigenetic control of DNA, SNP genotyping, gene sequencing, forensic biology, and medical genetics. Hosmer's experience will culminate with the creation of an individual laboratory project that she will present to Duke faculty and her institute peers.

At Armuchee High School, Hosmer is involved with the National Honors Society and Academic Decathlon and she has maintained a 4.0 GPA. Hosmer also volunteers in the community at Mount Berry Animal Hospital and the Rome Action Ministries Food Pantry. She plans to pursue undergraduate degrees in Biology and Veterinarian Sciences at Berry College or at the University of Georgia before deciding upon a school of medicine.

Click here to read additional press releases on RN-T.com.

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Armuchee junior to study human genetics at Duke University this summer

May 25, 2012

Connie K. Ho for RedOrbit.com

A new report published in the American Journal of Human Genetics (AJHG) states that previously undiscovered male fertility genes were identified and the new findings provide more information regarding human production.

The study, conducted by University of Chicago researchers, hopes to shine some light on the issue of male infertility.

Much of the research on fertility has looked at studies dealing with infertile participants. Likewise, it is thought that a certain stigma is attached to the subject of infertility because there isnt enough knowledge regarding the scientific causes of male infertility. As such, almost a quarter of infertility cases are unexplained.

Non-genetic factors, including alcohol and tobacco use, particular medications, and disease history, are also though to affect infertility.

Such studies have not been able to identify genes or pathways contributing to variation in natural human fertility, commented Carole Ober, the lead author of the study, in a prepared statement.

Obers past research has focused on finding genes that impact complex phenotypes to bring more understanding to evolutionary history and how the variations in genes can influence their functions. Besides the issue of fertility, her lab has examined phenotypes that are linked to common diseases. The studies on common diseases have highlighted phenotypes related to asthma and heart disease.

For this project, Ober and Glm Kosova, a graduate student at the University of Chicago, studied the Hutterites, a founder population. The Hutterites are a branch of Anabaptists that keep to specific religious and social beliefs.

The Hutterite environment is so remarkably uniform, Ober said in a University of Chicago article Medicine on the Midway when addressing the culture of sharing food and goods among the Hutterites.

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Study Finds Male Fertility Genes

The Smithsonian's National Museum of Natural History is developing its first major exhibit on the human genome with a $3 million pledge announced Monday from a biotechnology company.

The philanthropic foundation of Life Technologies Corp. is the lead sponsor for a 2,500-square-foot exhibition slated to open on the National Mall in June 2013.

The museum will collaborate with the National Human Genome Research Institute at the National Institutes of Health to develop a high-tech presentation of the history and future of genome sciences. The Foundation for the National Institutes of Health also raised $500,000 for the project.

The effort marks the 10th anniversary of researchers producing the first complete human genome sequence as a blueprint of the human body. The Human Genome Project was launched as an international effort in 1990 to better understand the genetic impact on health and disease.

Elizabeth Duggal, the museum's associate director for public programs, said most people probably don't know how quickly genomic science has advanced since then and how much of an impact it can have on their lives.

"Genetic research is probably one of the most important components of the 21st century in terms of life science advances," she said.

Carlsbad, Calif.-based Life Technologies recently announced it has developed a machine to decode an individual's DNA in a day for $1,000. The cost of sequencing DNA has tumbled since the first sequencing of the basic human genome was announced at the White House in 2000.

Reaching the $1,000 target is considered a key step in making the technique more accessible and practical for doctors to use to help their patents by revealing vulnerabilities or tailoring medical treatments.

"What science has taught us about genomics in the last 10 years will undoubtedly be dwarfed by the revolutionary advancements to come," Gregory Lucier, chairman and CEO of Life Technologies, said in a statement.

The museum also plans to delve into ethical questions that arise with advancements in genetic science.

Link:

Smithsonian to Create Its 1st Human Genome Exhibit

SALT LAKE CITY, May 21, 2012 /PRNewswire/ --Intermountain Healthcare and Myriad Genetics today announced they have signed a collaborative research agreement. The purpose of this agreement is to perform research and validation studies on transformative molecular diagnostic tests being developed by Myriad in an effort to improve the care and treatments for patients at Intermountain and around the world. This collaboration highlights the shared purpose of Myriad and Intermountain in improving outcomes and the quality of life for patients.

The first project under this collaboration, PRO 008, is designed to further expand the utility of the Prolaris test by analyzing biopsy samples of 200 patients diagnosed with prostate cancer. This study will assess the ability of the Prolaris test to predict which men are at a heightened risk of biochemical recurrence and therefore should be given more aggressive therapy for their disease. The goal of this, and Myriad's other Prolaris studies underway in multiple centers in the United States and Europe, is to demonstrate the prognostic ability of the Prolaris test in assessing a patient's risk of biochemical recurrence of disease and death from disease.

"We are thrilled to be partnering with Myriad to further research across a number of diseases in an effort to improve patient care," said Brent Wallace, MD, Intermountain's Chief Medical Officer. "We look forward to embarking on our prostate cancer collaboration with Myriad and hope the findings from this study will help define the clinical benefit of the Prolaris test. This will assist in helping men diagnosed with prostate cancer to understand the aggressiveness of their disease and make better informed decisions about appropriate treatment."

"Intermountain is committed to improving patient outcomes which is in perfect alignment with the core mission of Myriad," said Peter Meldrum, President and Chief Executive Officer of Myriad Genetics."This research collaboration will have great potential to help patients by furthering research on molecular diagnostic tests which can assist healthcare providers to effectively guide treatment decisions and determine the risk of disease progression and recurrence."

About Intermountain Healthcare

Intermountain Healthcare, a nonprofit healthcare system based in Salt Lake City, Utah, serves the healthcare needs of Utah and southeastern Idaho residents. Its mission is to provideclinically excellent medical care at affordable rates in a healing environment. For more information visit intermountainhealthcare.org

About Myriad Genetics

Myriad Genetics, Inc., an internationally recognized leader in molecular diagnostics, is dedicated to making a difference in patient's lives through the discovery and commercialization of transformative tests to assess a person's risk of developing disease, guide treatment decisions and assess risk of disease progression and recurrence. Myriad's portfolio of molecular diagnostic tests are based on an understanding of the role genes play in human disease and were developed with a commitment to improving an individual's decision making process for monitoring and treating disease. Myriad is focused on strategic directives to introduce new products, including companion diagnostics, as well as expanding internationally. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com.

Myriad, the Myriad logo, BRACAnalysis, Colaris, Colaris AP, Melaris, TheraGuide, Prezeon, OnDose, Panexia and Prolaris are trademarks or registered trademarks of Myriad Genetics, Inc. in the United States and foreign countries.

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Intermountain Healthcare and Myriad Genetics Enter Into Research Collaboration Agreement