Genetics News

Special issue of journal highlights ClinGen programOct 12, 2018
A special issue of the journal Human Mutation contains 25 papers related to the activities of the National Human Genome Research Institute-funded Clinical Genome Resource program (ClinGen) and ClinVar.
Undiagnosed Diseases Network finds 31 new syndromesOct 10, 2018
The Undiagnosed Diseases Network, a consortium of researchers including Baylor College of Medicine, Texas Children’s Hospital, Stanford University and other institutions, has found 31 new syndromes within two years of the group’s inception.
Grant funds somatic cell genome editing mouse models studyOct 9, 2018
As part of a larger effort of the National Institutes of Health’s Somatic Cell Genome Editing program, researchers received a U42 grant to create mouse model resources for testing the therapeutic potential of novel genome editing approaches.
Dynamin-binding protein linked to congenital cataractsOct 4, 2018
A new study has now found compelling evidence that links dynamin-binding protein (DNMBP) to congenital bilateral cataracts and severe vision loss. 
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.