PUBLIC RELEASE DATE: 19-Oct-2014 Contact: Nalini Padmanabhan press@ashg.org 301-634-7346 American Society of Human Genetics @GeneticsSociety BETHESDA, MD Scientists studying birth defects in humans and purebred dogs have identified an association between cleft lip and cleft palate conditions that occur when the lip and mouth fail to form properly during pregnancy and a mutation in the ADAMTS20 gene. Their findings were presented today at the American Society of Human Genetics (ASHG) 2014 Annual Meeting in San Diego. "These results have potential implications for both human and animal health, by improving our understanding of what causes these birth defects in both species," said Zena Wolf, BS, a graduate student at the University of California, Davis School of Veterinary Medicine. In both humans and dogs, cleft lip and cleft palate occur naturally with varying degrees of severity, and can be caused by various genetic and environmental factors. Since purebred dogs breed only with each other, there is less genetic variation to consider, making cleft lip and cleft palate easier to understand in these populations, Ms. Wolf explained. From previous studies, the researchers knew that a mutation in the dog genes DLX5 and DLX6, which are involved in face and skull development, explained 12 … Continue reading →

PUBLIC RELEASE DATE: 19-Oct-2014 Contact: Nalini Padmanabhan press@ashg.org 301-634-7346 American Society of Human Genetics @GeneticsSociety BETHESDA, MD A child's genetic makeup may contribute to his or her mother's risk of rheumatoid arthritis, possibly explaining why women are at higher risk of developing the disease than men. This research will be presented Tuesday, October 21, at the American Society of Human Genetics (ASHG) 2014 Annual Meeting in San Diego. Rheumatoid arthritis, a painful inflammatory condition that primarily affects the joints, has been tied to a variety of genetic and environmental factors, including lifestyle factors and previous infections. Women are three times more likely to develop rheumatoid arthritis than men, with peak rates among women in their 40s and 50s. Certain versions of the immune system gene HLA-DRB1, known collectively as the shared epitope alleles, are associated with the condition. HLA genes are best known for their involvement in the immune system's response to infection and in transplant medicine for differentiating between one's own cells and those that are foreign. The female predilection of rheumatoid arthritis strongly suggests that factors involved in pregnancy are involved, said Giovanna Cruz, MS, graduate student at the University of California, Berkeley, and first author on the … Continue reading →