Medications

First drug approved to treat rare metabolic disorder

(HealthDay)—The U.S. Food and Drug Administration approved the first treatment for the rare genetic disorder primary hyperoxaluria type 1 (PH1), the agency announced Monday.

Genetics

Rare congenital heart defect rescued by protease inhibition

A research team at the Greenwood Genetic Center (GGC) has successfully used small molecules to restore normal heart and valve development in an animal model for Mucolipidosis II (ML II), a rare genetic disorder. Progressive ...

Oncology & Cancer

Pale melanomas masked by albino gene

People with pale colored melanomas are more likely to have a gene mutation associated with albinism, University of Queensland research has found.

Genetics

New genetic analysis method could advance personal genomics

Geneticists could identify the causes of disorders that currently go undiagnosed if standard practices for collecting individual genetic information were expanded to capture more variants that researchers can now decipher, ...

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