Skip to main content
Premium Trial:

Request an Annual Quote

Genetics of Epilepsy Study Lands $15M from NINDS

NEW YORK (GenomeWeb News) - A group of researchers from several academic institutions will use $15 million in funding from the National Institutes of Health to study the genetic factors involved in common epilepsy, the University of California San Francisco said Monday.
 
The UCSF Epilepsy Center said the Epilepsy Phenome/Genome Project, funded by the National Institute of Neurological and Disorders and Stroke, plans to identify the "constellation of genes” that contribute to common types of epilepsy.
 
The researchers hope to identify molecular targets that could be used to develop treatments for epilepsy or help prevent onset of the disease in at-risk patients.
 
Daniel Lowenstein, vice chairman of the department of neurology at UCSF, is leading the two-phase project, which will include more than 50 scientists at 15 national medical centers, including New York University and Emory University.
 
The study will involve a group of 3,750 epilepsy patients as well as a control group of 3,000 subjects who do not have the disease.
 
The researchers first will collect and archive large amounts of clinical data about the patients, including information on type of seizures, results of electroencephalograms and imaging studies, and effects of treatment.
 
Then, teams from the Institute for Human Genetics at UCSF and from Emory University will conduct whole-genome scans to identify correlations between DNA sequence patterns and characteristics of the epilepsy population.

The Scan

Single-Cell Sequencing Points to Embryo Mosaicism

Mosaicism may affect preimplantation genetic tests for aneuploidy, a single-cell sequencing-based analysis of almost three dozen embryos in PLOS Genetics finds.

Rett Syndrome Mouse Model Study Points to RNA Editing Possibilities

Investigators targeted MECP2 in mutant mouse models of Rett syndrome, showing in PNAS that they could restore its expression and dial down symptoms.

Investigators Find Shared, Distinct Genetic Contributors to Childhood Hodgkin Lymphoma

An association study in JAMA Network Open uncovers risk variants within and beyond the human leukocyte antigen locus.

Transcriptomic, Epigenetic Study Appears to Explain Anti-Viral Effects of TB Vaccine

Researchers report in Science Advances on an interferon signature and long-term shifts in monocyte cell DNA methylation in Bacille Calmette-Guérin-vaccinated infant samples.