Genetics

New hope for blinding eye disease gene therapies

New opportunities towards gene therapy and diagnosis for the blinding eye disease, retinal dystrophy, may now become available following work done by the Eye Genetics Research Unit at Children's Medical Research Institute.

Genetics

Potassium channel dysfunction in genetic epilepsy

Northwestern Medicine scientists have discovered functional links between dozens of potassium channel gene variants and neonatal epilepsy, according to a study published in JCI Insight.

Genetics

Arrhythmia genes more common than previously thought

By sequencing known genes associated with cardiac arrhythmia risk in more than 20,000 people without an indication for genetic testing, scientists were able to identify pathogenic and likely pathogenic variants in nearly ...

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