Acquired epilepsy is a form of the neurological disorder that results from other conditions such as stroke, infections, and traumatic brain injury.
The company announced this week the expansion of a genetic testing program for US patients with inherited retinal disease that it has run with partners since 2017.
The Genomics Research and Innovation Network (GRIN) is a federated platform from three major pediatric hospitals to assist in research and treatment of rare diseases.
Functional analyses indicated that the de novo variant in AP2M1 found in four patients affects clathrin-mediated endocytosis and synaptic vesicle recycling.
Investigators used gene panel sequence data to look at rare de novo variant frequencies in potential risk genes for neurodevelopmental disorders with epilepsy.
The study, which is recruiting 1,130 children with undiagnosed genetic diseases, is testing two web-based interactive tools.
Free genetic testing on a broad gene panel is available to children, from birth to five years old, if they've had an unprovoked seizure.
The five-year deal, which is being funded by UCB, will focus in particular on epilepsy patients who do not respond to currently available treatments.
Using data for nearly 45,000 epilepsy cases and controls, researchers identified loci contributing to focal epilepsy, genetic generalized epilepsy, or unclassified epilepsy.
A re-analysis of genomic tests for 309 children with epilepsy altered diagnoses for more than a third of patients with a previously reported genetic variant.
23andMe has a holiday popup shop at a mall and could open additional stores, Bloomberg reports.
By studying koalas and a retrovirus that infects them, researchers may have uncovered a new sort of 'immune response' that occurs at the genomic level, Agence France Presse reports.
NPR reports that the first person in the US given a gene editing-based therapy for a genetic disorder is heading home.
In Science this week: ancient genomes reveal social inequality within individual households, new method for quantifying genetic variation in gene dosage, and more.