Genetics

Researchers outline centralized genetic testing model

The Roberts Individualized Medical Genetics Center (RIMGC) at Children's Hospital of Philadelphia (CHOP) launched in 2014 as a first-of-its-kind system to help families navigate the complex process of genetic and genomic ...

Genetics

New gene mutation associated with Fabry cardiomyopathy

The A143T variant of the GLA gene is associated with an increased risk of Fabry cardiomyopathy, according to a new study. The variant plays a role in lipid metabolism. According to the researchers, patients carrying the mutation ...

Alzheimer's disease & dementia

Drugs fail to slow decline in inherited Alzheimer's disease

Two experimental drugs failed to prevent or slow mental decline in a study of people who are virtually destined to develop Alzheimer's disease at a relatively young age because they inherited rare gene flaws.

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