DEPDC5 and Familial Focal Epilepsy with Variable Foci

A recent article in Nature Genetics describes the identification and linkage of DEPDC5 to familial focal epilepsy with variable foci.  The paper notes that FFEVF was originally described in a large family in which affected family members had electroclinical seizures arising from different brain cortical regions.  Seven further families with FFEVF have since been reported,… Read More DEPDC5 and Familial Focal Epilepsy with Variable Foci

Potential Mechanism Discovered for C9orf72-mediated ALS

One of the most fascinating papers to come out recently in the ALS field describes a potential link between C9orf72 hexanucleotide repeats and inclusion-body pathology in a subset of ALS patients.  Researchers from Belgium and Germany recently published a paper in Science magazine that describes how hexanucleotide repeat expansions in the C9orf72 gene, which is… Read More Potential Mechanism Discovered for C9orf72-mediated ALS

New Gene Markers Discovered in Cancer

Last week, COGS (Collaborative Oncological Gene-environment Study) released results from a major research effort identifying 74 newly discovered genetic variants linked to an increased risk in breast, prostate and ovarian cancer.  COGS are a group of 160 research centers around the world, and the five studies compared 100,000 patients with breast, ovarian or prostate cancer… Read More New Gene Markers Discovered in Cancer