Scientific progress sometimes requires a leap of faith. And patients who volunteer their records to a national genomic database under President Obamas new initiative for precision medicine will be taking a big one. In the young field of genomics, scientists are still drawing the ethical road map for open-ended exploration and realizing the privacy implications for what they might uncover. In the meantime, those who sign up for genomic studies are essentially along for the ride. President Obama is asking Congress to embark down a new path in medicine to create treatments for diseases that have long stumped the scientific community. Obamas 2016 budget proposal grants $215 million to advance the field of precision medicine, an approach in which experts toss out their one-size-fits-all strategy to develop drugs or therapies that target the genetic makeup and lifestyle choices of each patient. As part of the proposal, the Obama administration intends to give $130 million to the National Institutes of Health (NIH) to build a database of records that will include biological samples, test results, medical histories and genomic profiles of a million or more Americans. Theproject should present unprecedented opportunities for researchers but also a host of new challenges for … Continue reading →

Copy number variations (deletions or duplications of large chunks of the genome) are a major cause of birth defects, intellectual disability, autism spectrum disorder and other developmental disorders. Still, geneticists can definitively say how a CNV, once discovered in someone's DNA, leads to one of these conditions in just a fraction of cases. To aid in the interpretation of CNVs, researchers at Emory University School of Medicine have completed detailed maps of 184 duplications found in the genomes of individuals referred for genetic testing. The findings are scheduled for publication in the American Journal of Human Genetics. "Ours is the first study to investigate a large cohort of clinically relevant duplications throughout the genome," says senior author Katie Rudd, PhD, assistant professor of human genetics at Emory University School of Medicine. "These new data could help geneticists explain CNV test results to referring doctors and parents, and also reveal mechanisms of how duplications form in the first place." Despite advances in "next generation" DNA sequencing, the first step for patients who are referred to a clinical geneticist is currently a microarray. This is a scan using many probes across the genome, testing if someone's DNA has one, two, three or … Continue reading →

Peek, a 20-year-old American Black Bear living at the Topeka Zoo, is undergoing treatment, including a CT scan, for back condition, zoo director Brendan Wiley said Monday. Peek came out of her den two weeks ago and her keeper noticed the bears hind legs were wobbly. Peek was given pain medication. However, the condition quickly worsened, Wiley said in a news release. Peek within the next seven days continued to lose control of her rear legs. One of the unique things about this scenario is that Peek hasnt acted like anything is hurting her, said Shanna Simpson, animal care supervisor. It is like the front half of her body can no longer communicate with the back half. Peeks illness required the use of a CT scan, which used equipment the zoo doesnt have, Wiley said. Zoo veterinarian Shirley Llizo brought in Larry Snyder and Travis Gratton, of University Bird and Small Animal Hospital, to help harvest fat cells from Peek. This would allow the fat cells to be converted to stem cells to be injected. Peek was tranquilized Jan. 22 and transported to the zoos hospital so the fat cells could be harvested. After the harvest, Peek was transported to … Continue reading →