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epilepsy

The company's adaptive low-resource testing technology requires no instrumentation and limited equipment, making it adaptable to settings without clinical lab infrastructure.

The grants were awarded as part of Australia's Genomics Health Futures Mission, which was launched in 2018 as part of a broader health research initiative.

Blueprint provides 3,900 targeted single-gene and more than 200 panel tests covering 14 medical specialties, leveraging NGS and bioinformatics methods.

Run by the Simons Foundation Autism Research Initiative, SPARK has already grown to more than 220,000 participants from 75,000 families living in the US.

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.

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The Washington Post reports on researchers' efforts to determine the effect of an increasingly common SARS-CoV-2 mutation.

Florida Politics reports Florida's law barring life, long-term care, and disability insurers from using genetic information in coverage decisions went into effect at the beginning of July.

A new analysis finds a link between popular media coverage of a scientific study and how often that paper is cited.

In Nature this week: CRISPR approaches to editing plant genomes, way to speed up DNA-PAINT, and more.