Category Archives: Human Genetics

PUBLIC RELEASE DATE:

13-Nov-2014

Contact: Nalini Padmanabhan press@ashg.org 301-634-7346 American Society of Human Genetics @GeneticsSociety

BETHESDA, MD - The National Association of Biology Teachers (NABT) has named Robert R. Gotwals, Jr., M.S., chemistry and research instructor at the North Carolina School of Science and Mathematics (NCSSM) in Durham, the 2014 recipient of its Genetics Education Award.

This annual award recognizes innovative, student-centered classroom instruction to promote the understanding of genetics and its impact on inheritance, health, and biological research. Sponsored by the American Society of Human Genetics (ASHG) and the Genetics Society of America (GSA), the award will be presented to Mr. Gotwals on Saturday, November 15, during NABT's 2014 Professional Development Conference in Cleveland, Ohio. In addition to a recognition plaque and a year of complimentary membership to NABT, GSA, and ASHG, Mr. Gotwals will receive a $1000 cash prize.

Mr. Gotwals, who holds an undergraduate degree in chemistry and master's degrees in science education and education for the hearing-impaired, has developed resources related to research and computational chemistry for both students and teachers. In particular, he worked with the Jackson Laboratory in Bar Harbor, Maine, to create and implement a program for high school students to conduct genetics research. Using videoconferencing, students in the program collaborate with Jackson Laboratory scientists to analyze complex genetic and genomic data obtained from disease studies in mice.

"NABT is proud to recognize Mr. Gotwals as its first Genetics Education Award recipient," said Priya DasSarma, M.S., of the University of Maryland, chair of the NABT Awards Committee. "He has impressive genetics education credentials, including producing a video, 'DNA: The Secret of Life,' with Dr. James D. Watson. He is an ideal messenger for high school students, motivating them to analyze data coming down the bioinformatics, genomic, and genetic pipelines along with researchers in a fruitful collaboration," she said.

In addition, Mr. Gotwals developed the North Carolina High School Computational Chemistry server, which he continues to support; and curricula in general chemistry, research methods, and computational sciences, which he has taught at NCSSM since 2006.

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Award Presentation: The 2014 NABT Genetics Education Award will be presented at the NABT Honors Luncheon on Saturday, November 15, 2014, from 1:00-3:00 p.m. in Junior Ballroom A at the Cleveland Convention Center. Tickets are required.

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NABT recognizes chemistry teacher with Genetics Education Award

Dr. Robert A. Waterland: Early nutritional influences on human developmental epigenetics
Robert A. Waterland, Ph.D. Associate Professor Depts. of Pediatrics and Molecular Human Genetics Baylor College of Medicine Host: Dr. Susanne Talcott.

By: Texas A M Nutrition and Food Science

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Dr. Robert A. Waterland: Early nutritional influences on human developmental epigenetics - Video

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Newswise BIRMINGHAM, Ala. In 2001, Christine Skibola, Ph.D., now a professor of epidemiology at the University of Alabama at Birmingham School of Public Health, joined forces with a small group seeking a large goal discovery of genetic and environmental links to the white blood cell tumors that collectively are called lymphomas.

This has now resulted in the largest epidemiology and genetic studies of non-Hodgkin lymphoma (NHL) ever conducted. Thus far, these studies have culminated into four genetics papers published in Nature Genetics, American Journal of Human Genetics and Nature Communications, and an entire monograph in the Journal of the National Cancer Institute Monographs comprising 13 papers on environmental and medical risk factors found to be associated with various lymphoma subtypes. More papers are on the way.

This sort of research is huge in scale. The hundreds of investigators involved did risk factor analysis and genome-wide association studies on more than 17,400 NHL cases and 23,000 matched controls from North America, Europe and Australia. Two recent Skibola papers, for example, included 140 different authors at 82 different universities, institutes or hospitals that were located in 16 U.S. states and 18 foreign countries.

This is what it takes now to get the large power to detect true associations in most cases, Skibola said.

Those results finding links to personal and family histories, or associations with individual genetic markers set the path for future research and future possible treatments.

Consider the stark difference in risk profiles discovered by Skibola and others for two of the most common types of NHL diffuse large B-cell lymphoma (DLBCL) and follicular lymphoma (FL).

On the one hand, when researchers looked at risk factors related to medical history, lifestyle, family history and occupation, the DLBCL patients had numerous significant risks. These included being obese as a young adult, having a history of any one of a number of autoimmune diseases and a family history of a blood cancer. Other factors, such as allergic conditions, a history of alcohol consumption or a previous blood transfusion for men, and hormone replacement therapy or oral contraceptive use for women, gave some protection from DLBCL. In contrast, only a few, modest epidemiology risk factors were found for FL.

On the other hand, when researchers looked at risk factors associated with genetic changes, the tables were reversed: FL had a number of profound genetic risk factors and DLBCL had much less.

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UAB Researcher Has Key Role in Massive Non-Hodgkin Lymphoma Study

Saying no one should be able to patent human DNA, the Childrens Hospital of Eastern Ontario is asking the Federal Court to declare patents on genes linked to an inherited heart condition called Long QT Syndrome invalid.

The potential implications of the legal challenge, the first of its kind in Canada, are huge.

If the court agrees with the hospitals argument that the patents should never have been issued in the first place, there would be a ripple effect on other such patents and pending patents on human DNA. TheU.S. Supreme Court has already made a similar ruling invalidating patents on human DNA.

Our position is very straightforward, hospital CEO Alex Munter told a press conference held just after court documents were filed in Toronto on Monday. No one should be able to patent human DNA, it would be like patenting air or water. Doing so, he said, has a negative impact on the future of medicine, on patients access to their own genetic information and on the quality of care.

CHEO is taking on the first Canadian case because it is a major centre for genetics research and clinical applications. Patents on genetic materials, such as the ones that touch on Long QT Syndrome, Muntersaid, are a major obstacle to research and treatment of genetic diseases. The patents in question, five of them, are held by the University of Utah, Genzyme Genetics and Yale University.

Our genetics leadership really is at the leading edge in Canada of moving us toward that era of personalized medicine that everyone is talking about, Munter said. But patents on human DNA, he added, have been identified as an obstacle that will stand in the way of delivering on that promised future.

Long QT Syndrome affects an estimated one in 2,500 newborns. It can lead to life-threatening arrhythmias and is the cause of a significant number of sudden deaths in young adults, sometimes seen in deaths of young athletes playing sports. Sometimes symptoms such as fainting spells during exercise can help doctors diagnose and treat a patient, but in some cases, the first symptom of the syndrome is sudden death, said Dr. Gail Graham, who heads the hospitals department of genetics.

The syndrome is fully treatable with medications once diagnosed, but it can be tricky to diagnose using electrocardiogram alone, Graham said. Genetic testing along with ECG can come up with a conclusive diagnosis.

CHEO was set to become one of Ontarios testing centres for the syndrome but the province received a cease-and-desist order from the holder of the patents that are linked to the disease. Now, because of the patents surrounding the genes involved in the disease, testing must be done in the U.S. at a cost of about $4,500 to $4,800 a patient, said Graham, compared to between $1,500 and $2, 000 if it could be done here. Being able to test here, she said, would save the Ontario health system $200,000 a year. If genes continue to be patented, she said, the cost to the provincial health system will rise into the millions every year.

CHEO is in the final stages of verifying a new genetic test that wouldsimultaneously sequence all of the thousands of genes in an individual that been linked to human genetic diseases. It is something that couldnt even be imagined five years ago, said Graham, chief of the hospitals department of genetics. But such a test creates a potential nightmare scenario for patients with undetected Long QT syndrome, she said. If thetest done on a patient incidentally turned up the genetic mutations for Long QTsyndrome, she said, lab scientistswould be prevented by law from passing that information along to the physician treating the patient, meaning a potentially fatal condition would go untreated.

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Ottawa hospital challenges patent on human genes (with video)

Human Genetics Ch.15 slides
powerpoint.

By: van vu

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Human Genetics Ch.15 slides - Video

Scientists at UBs Research Institute on Addictions (RIA) are taking part in a National Institute on Drug Abuse (NIDA) Center of Excellence study on the genetics of drug abuse.

The study is funded by a $12 million grant to Abraham Palmer, associate professor of human genetics at the University of Chicago, to establish the NIDA Center for Genome-Wide Association Studies in Outbred Rats. The center will combine complex behavioral studies with recent technological advances in rat genetics to help scientists shed light on the genes behind drug addiction.

Research groups from UB, University of Michigan, University of Tennessee Health Science Center and Medical College of Wisconsin will work in collaboration with the NIDA Center of Excellence on specific genetic research projects.

Jerry Richards, RIA research scientist, will lead UBs participation in collaboration with Joseph Lucke, RIA senior research scientist, and Paul Meyer, assistant professor in the Department of Psychology.

Richards group will explore the link between addiction and various behaviors, such as response to novelty, sustained attention and reaction time. It also will look at preference for a large, delayed reward compared to smaller immediate rewards, and why some animals strongly react to cues that have been associated with cocaine. How these behaviors are related to each other and drug abuse will be investigated, as well as their genetic underpinnings.

RIA Director Kenneth Leonard and Stephen Tiffany, Empire Innovation Professor and chair of the UB Department of Psychology, will serve on the advisory board for the NIDA Center of Excellence.

Other scientists across the country who will participate in the center include Terry Robinson, Elliott S. Valenstein Distinguished University Professor of Psychology and Neuroscience, University at Michigan; Shelly Flagel, research assistant professor of psychiatry, Molecular and Behavioral Neuroscience Institute, University of Michigan; Hao Chen, assistant professor of pharmacology, Health Science Center, University of Tennessee; and Leah Solberg Woods, associate professor of pediatrics, Human and Molecular Genetics Center, Medical College of Wisconsin. Their projects will study subjects including the genetic basis for differences in reward-seeking behavior and the genetic influence of nicotine self-administration in rats.

More information on the NIDA Center for Genome-Wide Association Studies in Outbred Rats is available online.

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RIA collaborates on study on genetics of drug addiction

Wheelchair Judge (The Hidden #3)
What is The Hidden In the early 1950s human genetics experimentation was taking its first, tentative steps. Amongst many other black projects, a team of British scientists working at an Infinitum...

By: MrMad TeaHatter

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Wheelchair Judge (The Hidden #3) - Video

Trevor #39;s C4 Story (The Hidden #2)
What is The Hidden In the early 1950s human genetics experimentation was taking its first, tentative steps. Amongst many other black projects, a team of Brit...

By: MrMad TeaHatter

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Trevor's C4 Story (The Hidden #2) - Video

Mikko Mattila - Travel, Finland, Helsinki/Alamy

Finland offers geneticists a rich seam of variation.

For decades, biologists have studied gene function by inactivating the gene in question in mice and other lab animals, and then observing how it affects the organism. Now researchers studying such gene knockouts have another, ideal model at their disposal: humans.

The approach does not involve genetically engineering mutant people in the lab, as is done in mice. Instead, researchers scan the genomes of thousands or millions of people, looking for naturally occurring mutations that inactivate a particular gene. By observing how these mutations affect health, researchers hope to gain insight into basic biology and to unearth new disease treatments.

Geneticists discussed several such large-scale efforts during a packed session at the American Society of Human Genetics meeting in San Diego, California, last week. So much of what we know is based on mice and rats, and not humans, says Daniel MacArthur, a genomicist at Massachusetts General Hospital in Boston, whose team identified around 150,000 naturally knocked-out genes by trawling the protein-coding portion of the genome, or exome, in more than 90,000 people. Now we can find people who actually have a particular gene inactivated or somehow modified, and that allows us to test hypotheses directly.

On average, every person carries mutations that inactivate at least one copy of 200 or so genes and both copies of around 20 genes. However, knockout mutations in any particular gene are rare, so very large populations are needed to study their effects. These loss of function mutations have long been implicated in certain debilitating diseases, such as cystic fibrosis. Most, however, seem to be harmless and some are even beneficial to the persons carrying them. These are people were not going to find in a clinic, but theyre still really informative in biology, says MacArthur.

His group and others had been focusing on genome data, but they are now also starting to mine patient-health records to determine the sometimes subtle effects of the mutations. In a study of more than 36,000Finnish people, published in July (E.T.Lim etal. PLoS Genet. 10, e1004494; 2014), MacArthur and his team discovered that people lacking a gene called LPA might be protected from heart disease, and that another knockout mutation, carried in one copy of a gene by up to 2.4% of Finns, may cause fetuses to miscarry if it is present in both copies.

Bing Yu of the University of Texas Health Science Center in Houston told the meeting how he and his collaborators had compared knockout mutations found in more than 1,300people with measurements of around 300molecules in their blood. The team found that mutations in one gene, called SLCO1B1, were linked to high levels of fatty acids, a known risk factor for heart failure. And a team from the Wellcome Trust Sanger Institute in Hinxton, UK, reported that 43 genes whose inactivation is lethal to mice were found to be inactivated in humans who are alive and apparently well.

Following up on such insights will help researchers to unpick the functions of the thousands of human genes about which little or nothing is known, say MacArthur and others. It might even aid drug discovery by identifying genes or biological pathways that could protect against disease.

The poster child for human-knockout efforts is a new class of drugs that block a gene known as PCSK9 (see Nature 496, 152155; 2013). The gene was discovered in French families with extremely high cholesterol levels in the early 2000s. But researchers soon found that people with rare mutations that inactivate one copy of PCSK9 have low cholesterol and rarely develop heart disease. The first PCSK9-blocking drugs should hit pharmacies next year, with manufacturers jostling for a share of a market that could reach US$25 billion in five years.

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Geneticists tap human knockouts

Elizabeth Neufeld PhD Tribute 2014
UCLA Human Genetics Tribute to Elizabeth Neufeld PhD.

By: UCLA

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Elizabeth Neufeld PhD Tribute 2014 - Video