Painted turtle gets DNA decoded
Scientists have decoded the genome of the western painted turtle, one of the most abundant turtles on Earth, finding clues to their longevity and ability to survive without oxygen during long winters spent hibernating in ice-covered ponds. Understanding the natural mechanisms turtles use to protect the heart and brain from oxygen deprivation may one day improve treatments for heart attacks or strokes, the researchers say. The research team includes scientists at Washington University School of Medicine in St. Louis, the University of California at Los Angeles, St. Louis University and other institutions. Their analysis is ...
Source: NHGRI-Related News - April 4, 2013 Category: Genetics & Stem Cells Source Type: news

Study reveals the genetic variations that raise the risk of breast, prostate or ovarian cancer
Over 80 regions of the genome that can increase an individual's risk of breast, prostate and ovarian cancers have been found in the largest ever study of its kind. The research, led by scientists at the University of Cambridge and The Institute of Cancer Research, London, funded by Cancer Research UK and the Wellcome Trust, could lead to new treatments, targeted screening and a greater understanding of how these diseases develop. The results are also based, in part, on data generated by The Cancer Genome Atlas Pilot Project established by the National Cancer Institute and the National Human Genome Research Institute. (Sour...
Source: NHGRI-Related News - March 29, 2013 Category: Genetics & Stem Cells Source Type: news

Study finds molecular 'signature' for rapidly increasing form of esophageal cancer
During the past 30 years, the number of patients with cancers that originate near the junction of the esophagus and stomach has increased approximately 600 percent in the United States. The first extensive probe of the DNA of these esophageal adenocarcinomas (EACs) has revealed that many share a distinctive mix-up of letters of the genetic code, and found more than 20 mutated genes that had not previously been linked to the disease. The research, led by scientists at Dana-Farber Cancer Institute, the Broad Institute, and other research centers, may offer clues to why EAC rates have risen so sharply. The findings, which are...
Source: NHGRI-Related News - March 24, 2013 Category: Genetics & Stem Cells Source Type: news

New Database to Speed Genetic Discoveries
A new online database combining symptoms, family history and genetic sequencing information is speeding the search for diseases caused by a single rogue gene. As described in an article in the May issue of Human Mutation, the database, known as PhenoDB, enables any clinician to document cases of unusual genetic diseases for analysis by researchers at the Johns Hopkins University School of Medicine or the Baylor College of Medicine in Houston. If a review committee agrees that the patient may indeed have a previously unknown genetic disease, the patient and some of his or her family members may be offered free comprehensive...
Source: NHGRI-Related News - March 19, 2013 Category: Genetics & Stem Cells Source Type: news

Circuitry of cells involved in immunity, autoimmune diseases exposed
New work from the Broad Institute's Klarman Cell Observatory, Brigham and Women's Hospital, Harvard University, MIT, and Yale University expands the understanding of how one type of immune cell — known as a T helper 17 or Th17 cell — develops, and how its growth influences the development of immune responses. By figuring out how these cells are "wired," the researchers make a surprising connection between autoimmunity and salt consumption, highlighting the interplay of genetics and environmental factors in disease susceptibility. The results of their work appear in three companion papers in Nature this week. Su...
Source: NHGRI-Related News - March 6, 2013 Category: Genetics & Stem Cells Source Type: news

Ancient lamprey DNA decoded
In the current issue of Nature Genetics, a team of scientists has presented an assembly of the sea lamprey genome�- the first time the entire sequence has been decoded. The data is compelling as the sea lamprey is one of the few ancient, jawless species that has survived through the modern era. The paper not only sheds light on how the venerable invasive species adapted and thrived, but it also provides many insights into the evolution of all vertebrates, species with backbones and spinal cords, which includes humans. The research was funded primarily by the National Human Genome Research Institute. (Source: NHGRI-Related News)
Source: NHGRI-Related News - February 24, 2013 Category: Genetics & Stem Cells Source Type: news

NIH clinical trial begins for treatment of rare, fatal neurological disorder
A clinical trial to evaluate a drug candidate called cyclodextrin as a possible treatment for Niemann-Pick disease type C1 (NPC), a rare and fatal genetic disease, will start today, researchers announced. Scientists from the NIH"s National Center for Advancing Translational Sciences (NCATS) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) will conduct the clinical trial at the NIH Clinical Center. Reaching this trial stage required collaboration among government, industry, patient advocacy groups and academic researchers. NHGRI is one of the collaborating institutions on the r...
Source: NHGRI-Related News - January 23, 2013 Category: Genetics & Stem Cells Source Type: news

Genes And Their Regulatory 'Tags' Conspire To Promote Rheumatoid Arthritis
In one of the first genome-wide studies to hunt for both genes and their regulatory "tags" in patients suffering from a common disease, researchers have found a clear role for the tags in mediating genetic risk for rheumatoid arthritis (RA), an immune disorder that afflicts an estimated 1.5 million American adults. By teasing apart the tagging events that result from RA from those that help cause it, the scientists say they were able to spot tagged DNA sequences that may be important for the development of RA. And they suspect their experimental method can be applied to predict similar risk factors for other common, noninf...
Source: NHGRI-Related News - January 20, 2013 Category: Genetics & Stem Cells Source Type: news

NIH to recruit Associate Director for Data Science
National Institutes of Health Director Francis S. Collins, M.D., Ph.D., today announced plans to recruit a new senior scientific position, the Associate Director for Data Science. The associate director will lead a series of NIH-wide strategic initiatives that collectively aim to capitalize on the exponential growth of biomedical research data, such as from genomics, imaging, and electronic health records. NHGRI Director Eric Green, M.D., Ph.D., has been appointed to serve as the Acting Associate Director for Data Science until the position is filled. (Source: NHGRI-Related News)
Source: NHGRI-Related News - January 15, 2013 Category: Genetics & Stem Cells Source Type: news

What do leeches, limpets and worms have in common?
A multinational team, led by researchers at UC Berkeley, published the genomes of the leech and two relatives, the limpet and the marine worm, or polychaete, in the Dec. 20 issue of the journal Nature. The publication comes after five years of efforts analyzing mountains of information provided by the initial sequencing effort to learn what leeches have in common with other animals another and with humans. NHGRI helped fund this research. (Source: NHGRI-Related News)
Source: NHGRI-Related News - December 19, 2012 Category: Genetics & Stem Cells Source Type: news

Stem cells can become anything - but not without this protein, U-M scientists find
Stem cells have the ability to become any type of cell in the body, but researchers weren't sure why. Now, a University of Michigan Medical School team has published a key discovery that could help answer that question. In the current issue of the prestigious journal Cell Stem Cell, researcher Yali Dou, Ph.D., and her team show the crucial role of a protein called Mof in preserving the "stem-ness" of stem cells, and priming them to become specialized cells in mice. NHGRI helped fund the research. (Source: NHGRI-Related News)
Source: NHGRI-Related News - August 21, 2012 Category: Genetics & Stem Cells Source Type: news