A pair of new studies evaluated whole-exome sequencing and other genetic tests in children with epilepsy and in other undiagnosed monogenic disease cases.
The grant was awarded by the Human Frontier Science Program, which promotes international research collaborations.
A pilot program will allow 100 individuals and families with a rare form of epilepsy to receive exome sequencing as part of a larger epilepsy genetics database effort.
In PNAS this week: flu susceptibility and Y chromosome variation in mice, deletion tied to epilepsy in dog breed, and more.
The results suggest that targeted treatments used in rare epilepsies might also work in a portion of patients with common forms of the disease.
The results begin to adress questions about whether the company's meticulous, but costly research services can actually impact patient outcomes.
By overlaying epilepsy genetic data onto co-expressed gene networks from post-mortem brain samples, researchers proposed a 320-gene expression network for epilepsy.
The company plans to release its first product in this area, a blood-based proteomic diagnostic for epilepsy, as a laboratory-developed test next year.
The test, named EvoScore START, measures a panel of blood-based protein biomarkers to distinguish between epileptic seizures and other similar events.
The Geisinger Health System team found 241 genes, including 17 new ones, which could be related to autism, schizophrenia, and other disorders.
The US Food and Drug Administration has new guidelines that enable some gene and cell therapies to undergo expedited review, according to the New York Times.
Using gene drives to control invasive species might be too risky, an initial advocate of the approach says.
Researchers have grown tumors in 3D cell cultures to better understand cancer, the Economist reports.
In Science this week: intellectual property experts argue patent battles such as the one over CRISPR are wasteful, and more.