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epilepsy

The trial aims to combine personal information, pharmacogenomics data, and machine-learning tools to select the best anti-seizure medication for patients. 

 

 

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.

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Gene editing could be an issue competitive sports need to address soon, four researchers from Arizona State University write at Slate.

A genetic alteration appears to increase heart failure risk among people of African descent, according to the Washington Post.

In his look back at the past decade, BuzzFeed News' Peter Aldhous writes that direct-to-consumer genetic testing has led to "Facebook for genes."

In Nature this week: genetic "clock" that can predict the lifespans of vertebrates, new assembler called wtdbg2, and more.