PUBLIC RELEASE DATE: 18-Oct-2014 Contact: Glenna Picton picton@bcm.edu 713-798-4710 Baylor College of Medicine @bcmhouston HOUSTON -- (Oct. 18, 2014) Approximately one-fourth of the 3,386 patients whose DNA was submitted for clinical whole exome testing received a diagnosis related to a known genetic disease, often ending a long search for answers for them and their parents, said researchers from the Baylor College of Medicine departments of molecular and human genetics and pediatrics and the Baylor Human Genome Sequencing Center and the University of Texas Health Science Center at Houston. In an online report in the Journal of the American Medical Association, the scientists led by Drs. Yaping Yang, laboratory director of the Whole Genome Laboratory at Baylor, and Christine Eng, professor of molecular and human genetics at Baylor and senior director of Baylor's Medical Genetics Laboratories, found a molecular diagnosis (meaning a genetic mutation or variation linked to a disease) in 25 percent of the large group of cases confirming in this much larger group of patients the diagnostic yield from their initial report on the first 250 cases that appeared in the New England Journal of Medicine a little more than a year ago. Eng will also present results of … Continue reading →

PUBLIC RELEASE DATE: 18-Oct-2014 Contact: Nalini Padmanabhan press@ashg.org 301-634-7346 American Society of Human Genetics @GeneticsSociety BETHESDA, MD Human geneticists have discovered that a region of the genome associated with autism contains genetic variation that evolved in the last 250,000 years, after the divergence of humans from ancient hominids, and likely plays an important role in disease. Their findings were presented today at the American Society of Human Genetics (ASHG) 2014 Annual Meeting in San Diego. Researchers at the University of Washington analyzed the genomes of 2,551 humans, 86 apes, one Neanderthal, and one Denisovan. They closely examined a region of human chromosome 16 known as 16p11.2, a region prone to genetic changes in which segments of DNA are deleted or duplicated, one of the most common genetic causes of autism, schizophrenia, and other conditions. The geneticists found that certain segments of DNA in this region are repeated a variable number of times in different people and may also be associated with disease. To trace the origins of this variation, the researchers collaborated with colleagues at the University of Lausanne and the University of Bari to sequence and analyze corresponding regions of ape genomes. "When we compared the genomes of apes … Continue reading →