Molecular and Human 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.
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.
Breakthrough reveals mutation driving acute myeloid leukemiaSep 10, 2018
Researchers have discovered that the growth of leukemic cells depends on mutant NPM1 gene and its abnormal transport out of the nucleus into the cytoplasm of the cell.
INSiGHT identifies unique retinal regulatory genesAug 29, 2018
Researches at Baylor College of Medicine, Texas Children’s Hospital and the Hospital for Sick Children have developed a new platform called INSiGHT that enables them to uncover new regulators of retina neurons.
Scientists turn unexpected results into research toolAug 10, 2018
Puzzled by their experimental results, a team of scientists investigated why a research tool that was expected to suppress neuronal activity actually was stimulating it.
Dr. Cheryl Lyn Walker receives Outstanding Investigator AwardAug 6, 2018
Dr. Cheryl Lyn Walker has been awarded an Outstanding Investigator Award (R35) from the National Cancer Institute (NCI).
New gene therapy treatment for osteoarthritisJul 31, 2018
Researchers at Baylor College of Medicine have identified a potential strategy for treating osteoarthritis from both a symptomatic and disease-modifying perspective by using gene therapy to inhibit the interleukin-1 pathway.
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.
Sugar delays neurodegeneration caused by enzyme deficiencyJun 20, 2018
A new therapeutic approach may one day delay neurodegeneration typical of a disease called mucopolysaccharidoses IIIB (MPS IIIB).