Genetics News

Researchers find missplicing Scn5a alters cardiac functionSep 28, 2018
A new study shows that reproducing in mice the missplicing of gene Scn5a observed in patients with myotonic dystrophy type 1(DM1) recapitulates defects in cardiac function present in the patients.
Baylor’s HGSC named an NIH All of Us research centerSep 26, 2018
The All of Us Research Program, part of the National Institutes of Health, has named a consortia led by Baylor's Human Genome Sequencing Center as one of three centers responsible for generating clinical grade genomic data for the program. 
Grant supports identifying leukemia, Down syndrome linkSep 18, 2018
To better understand a predisposition for acute lymphoblastic leukemia in children with Down syndrome, a team of researchers will sequence the genomes of more than 2,000 individuals with Down syndrome.
Research reveals gene regulation can be digital or stochasticAug 23, 2018
A team of researchers from the National Institutes of Health Roadmap Epigenomics Project has discovered that DNA methylation involved in gene regulation is largely digital and stochastic.
Dr. Lupski recognized for leadership in geneticsAug 9, 2018
The American Society of Human Genetics (ASHG) has honored Dr. James Lupski with the 2018 Victor A. McKusick Leadership Award.
Analytical tool predicts disease causing genesJul 19, 2018
Predicting genes that can cause disease due to the production of truncated or altered proteins is now possible thanks to a new analytical tool to effectively and efficiently predict such candidate genes.
Mutations in gene TRAF7 associated with multisystem disorderJun 28, 2018
A team of researchers find that mutations in TRAF7 are likely associated with a multisystem disorder.
Ethicists examine law enforcement’s use of genetic databasesJun 8, 2018
While the prospects from direct-to-consumer genetic are exciting, there also has been an emerging trend of law enforcement agencies using these databases to solve crimes and cold cases, raising complex questions about ethics and data access.
Joint symposium brings advances in genetic research to Asia for second yearMay 24, 2018
For the second year, top geneticists from around the world gathered for the Joint Symposium in Clinical Genetics and 14th Asia Pacific Congress in Maternal Fetal Medicine in Hong Kong.
Xia-Gibbs Syndrome study led to new patient registryMay 4, 2018
Researchers at the Human Genome Sequencing Center have established a registry to collect genetic and other clinical information from patients with Xia-Gibbs Syndrome.