When researchers study rare diseases, breakthroughs can be made that help patients. Revisit studies that are putting genetic puzzle pieces together to tackle these conditions.
SCN8A encephalopathy could be improved with a treatment already approved for other uses.
Research in first-year medical residents suggests the predictive power of a tool based on multiple gene variants linked to depression.
Researchers identify genetic variants that lead to a severe developmental syndrome. The findings could mean better screening and diagnosis for patients with inherited syndromes.
A tool borrowed from bacteria successfully seeks out, cuts and destroys long stretches of human cells’ DNA, opening doors to new uses in research and treatment.