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The SCN3A gene, which encodes a voltage-gate sodium channel in the brain, also controls oral motor development, including swallowing, tongue movement, and speech.
Researchers used WGS to diagnose the patients when previous testing couldn't find an underlying genetic cause for their symptoms.
The UPenn team will collect genetic information from outside patient cohorts, reorganize it in a streamlined process, and provide a database for downstream studies.
Researchers used CRISPR to engineer mice that have multiple genetic variants associated with late-onset AD to facilitate research into biomarkers and treatments.
Researchers used brain expression data from mice with well-documented sleep traits to identify gene networks that overlap with those in human depression.
In an epigenome-wide association study of depression, the researchers tied DNA methylation to disease symptoms and suggested a role for axon guidance disruption.
Though the South Carolina Supreme Court said Quest was a healthcare provider, Williams can try to keep her case alive by arguing she's alleging ordinary negligence.
The funding will help support the whole-genome and RNA sequencing of Alzheimer's disease patients to advance biomarker development.
Using exome sequences for 6,753 parent-child trios, researchers saw genes with increased de novo variant burdens in neurodevelopmental disorders with epilepsy.
The researchers also uncovered ties between the two traits and other neurological and psychological traits, such as Alzheimer's disease and depression.
This could mean that clinical boundaries between psychiatric disorders might not reflect their underlying biology, Brainstorm Consortium researchers said.
The £550,000 award is part of a larger multi-partner grant to develop and implement a point-of-care test to avoid antibiotic-related hearing loss in newborns.
A large meta-analysis and functional genomic assessment of a risky HLA haplotype uncovered hypomethylation that alters immune-related expression at the locus.
The UK-based Dementia Discovery Fund is investing $1.3M in Immuneering's drug-discovery technology in search of new molecular entities for treating Alzheimer's.
An association study involving more than 100,000 individuals led to overlapping and distinct variants involved in bipolar disorder, schizophrenia, and subtypes of each.
The designation will help the company accelerate the process of bringing the opioid addiction risk test through regulatory review and clearance.
The multi-year renewal includes DNA Genotek's Oragene-Dx saliva kits and GenoFIND services for custom collection kit packaging and order fulfillment services.
By combining iPSCs, CRISPR gene editing, and transcriptomic approaches, researchers examined the effects of an Alzheimer's disease risk variant on brain cells.
Researchers searched exome sequences of more than 100,000 individuals for associations to more than a dozen quantitative human traits and 10 diseases.
The genetic risk of schizophrenia is influenced by early-life complications and the placenta differentially expresses these complication-linked genes, a new study says.
Two COVID-19 vaccine developers have released their trial protocols to build public trust, the New York Times reports.
A new analysis finds the rapid COVID-19 test from DnaNudge to be highly accurate, Reuters reports.
In Science this week: global citizens' assembly on genome-editing technologies proposed, epigenetic markers predict metformin response, and more.
According to the Verge, many US states are not including positive results from rapid COVID-19 testing in their case numbers.