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Clinical genetics news

Reducing nuclear damage improves heart function and survival in mice

Reducing damage to the nuclei of heart muscle cells improved heart function and extended survival in mice with a form of inherited heart disease, according to a new study led by Cornell researchers. The findings point to ...

Buildup of normally harmless enzyme stunts brain growth in mice with Angelman syndrome

Angelman syndrome is a rare disease with a single known cause: one missing gene. The lack of that gene, normally inherited from the mother, occurs in approximately one in 20,000 births and is associated with cognitive and ...

Gene variants that can cause sudden death mapped

Using a high-throughput technique, an international collaboration led by Vanderbilt Health researchers has created a "map" of 1,757 genetic variations that can trigger a life-threatening heart rhythm disorder called long ...

Fast-tracked genetic testing helping sick kids

A new genetic testing approach for sick children with immune conditions could slash diagnosis waiting times from 12 months to as little as two weeks, University of Queensland research has found.

AI tool helps identify harmful epilepsy genetic variants

A new artificial intelligence tool developed by Northwestern Medicine scientists and collaborating institutions can help determine whether genetic variants associated with a severe form of childhood epilepsy will cause disease, ...

Reversing age by reprogramming gene expression networks

Every organ and tissue progressively loses function and integrity as it ages. In fact, researchers have identified "hallmarks of aging" that not only present specific processes impacted by age, but are also thought of as ...