Thousands of times per year, a family’s moment of joy turns to unexpected grief. A seemingly healthy infant stops smiling or ...

Scientists have traced a devastating pattern of brain cell loss in a handful of families to a single, ultra-rare mutation that sabotages one of the brain’s key protective enzymes. The discovery not ...

Researchers at University of Tsukuba have elucidated the molecular pathogenesis of multicentric carpotarsal osteolysis (MCTO), a rare hereditary disorder that frequently results in renal failure.

Scientists have corrected gene mutations in mice causing an ultra-rare disease by editing DNA directly in the brain with a single injection, a feat with profound implications for patients with ...

GRAND RAPIDS, Mich — There is a rare gene mutation linked to sudden cardiac death and heart failure called phospholamban (PLN). It may not be very common worldwide, but likely more so in West Michigan ...