Researchers have conducted what they say is the largest and most diverse study to date on how recessive genetic changes contribute to developmental disorders. The team, headed by researchers at the ...

In a recent study published in the Journal of Experimental Medicine, researchers identified that individuals with a deficiency of myeloid differentiation primary response 88 (MyD88) and interleukin-1 ...

As a group, carriers of recessive disorders are slightly less healthy and have a reduced chance of having offspring. This disadvantage is greatest for carriers of a recessive gene for intellectual ...

Deleterious homozygous variants in NSUN6 linked to autosomal recessive neurodevelopmental delay June 15, 2023 ...

SCID is a rare disease that appears in infancy. It causes affected children to have a very weak immune system. There are now tests and treatments for this severe, inherited condition. Severe combined ...