Medical Xpress

Organoids provide new insights into rare malformation of human brain development

Researchers at the Central Institute of Mental Health (CIMH) in Mannheim, together with international partners, have developed patient-derived brain organoids for the first time in order to better ...
Hosted on MSN

This rare mutation destroys brain cells, scientists found the cause - MSN

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 ...
Labroots

Genetic Mutations Allow Blood Stem Cells in Rare Disease to Evade Immunity

Aplastic anemia is a rare blood disorder in which patients cannot make enough blood cells. This life-threatening disease is a result of the immune system attacking blood stem cells. The condition has ...
Medical Xpress

Rare bone disease mutation linked to kidney failure pathway, mouse study shows

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.
WZZM

Do you have Dutch ancestry? A rare gene mutation could affect your heart

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 ...
ucdavis.edu

Children with Rare, Debilitating Brain Diseases Suffer From Mutations in a Little-Known Protein Complex

Work by Jawdat Al-Bassam, left, associate professor of molecular and cellular biology at UC Davis and his former student Aryan Taheri (right), now pursuing a Ph.D. at UC Berkeley, has uncovered the ...