All news from Medical Genetics

New Genetic Insight Could Help Treat Rare Debilitating Heart and Lung Condition

The largest study of genetic variation in patients with pulmonary arterial hypertension has associated two important genes with the disease. In collaboration with institutes from Europe and Northern America, researchers from Imperial College London have conducted the largest genetic analysis to date of 2,000 patients with pulmonary arterial hypertension (PAH) and identified associations with two genes

The Long and Short of CDK12 Mutations

Mutations in the BRCA1 and BRCA2 genes pose a serious risk for breast and ovarian cancer because they endanger the genomic stability of a cell by interfering with homologous recombination repair (HR), a key mechanism for accurately repairing harmful double-stranded breaks in DNA. Without the ability to use HR to fix double-stranded breaks, the cell is forced to resort to more error-prone—and thus more cancer-prone—forms of DNA repair

Research Shed Light On Why Some Tumor Cells Survive Treatment

By studying both the physical and genomic features of cancer cells, MIT researchers have come up with a new way to investigate why some cancer cells survive drug treatment while others succumb. Their new approach, which combines measurements of cell mass and growth rate with analysis of a cell's gene expression, could be used to reveal new drug targets that would make cancer treatment more effective. Exploiting these targets could help knock out the defenses that cells use to overcome the original drug treatment, the researchers say

Researchers Identify First Genetic Risk Variants For ADHD

A major international collaboration headed by researchers from the Danish iPSYCH project, the Broad Institute of Harvard and MIT, Massachusetts General Hospital, SUNY Upstate Medical University, and the Psychiatric Genomics Consortium has for the first time identified genetic variants which increase the risk of ADHD. The new findings provide a completely new insight into the biology behind ADHD

New Method for Studying Gene Expression Could Improve Understanding of Brain Disease

It takes a lot of cells to make a human brain. The organ houses not only an enormous quantity of neurons but also an impressive diversity of neuron types. In recent years, scientists have been developing inventories of these cell classes-information that will be essential for understanding how the brain works. Contributing to this effort, a new study from Rockefeller scientists describe a novel methodology for characterizing neurons and their gene expression patterns with unmatched precision

Researchers Discover Key Gene in Cells Associated With Age-related Hearing Loss

An international group of researchers, led by Ronna Hertzano, MD, Ph.D., Associate Professor, Department of Otorhinolaryngology-Head & Neck Surgery, Anatomy and Neurobiology, at the University of Maryland School of Medicine (UMSOM), and Michael Bowl, Ph.D., Programme Leader Track Scientist, Mammalian Genetics Unit, MRC Harwell Institute, UK, have identified the gene that acts as a key regulator for special cells needed in hearing