In the late 1980s, scientists developed a revolutionary approach to treating acute myeloid leukemia (AML), a type of blood cancer. Called differentiation therapy, it amounted to a bona fide cure for many patients. The treatment works by triggering cells “stuck” with a cancerous identity to keep developing and maturing, giving rise to different, non-disease causing...
Tag: <span>KAT6A syndrome</span>
Post
KAT6A syndrome: Advances on the genetic bases and clinical picture of a rare disease
UNIVERSITY OF BARCELONA A research team has described five new cases of a rare disease -known as KAT6A syndrome- of which there are only eighty dominant cases worldwide. This neurological and developmental disorder, caused by alterations in the lysine acetyltransferase 6A gene (KAT6A), involves intellectual disability, language impairment, low muscle tone, cardiovascular malformation and eye...