After mystery symptoms as a baby, she was diagnosed with a rare disorder that forces her to shun all UV light. She got to be ...

Brandon Joseph, 20, opens up to PEOPLE seven years after his first interview. He talks about overcoming daily challenges and becoming more independent while living with epidermolysis bullosa, a rare ...

A rare cause of hereditary cognitive decline known as CSF1R-Related Disorder (CSF1R-RD) gets its name from mutations in the ...

Study found that the contribution of recessive genetic variants to developmental disorders varies significantly across ethnic groups studied.

Skin involvement is a common and often early indicator of VEXAS syndrome, affecting 83% of patients. Learn more.

The pathogenetic mechanisms related to autoimmunity in skin diseases remain poorly understood. However, these diseases are widely believed to result from the interaction of genetic susceptibility and ...

Psoriasis, a chronic inflammatory skin disorder, affects millions worldwide and is known for its debilitating symptoms and ...

SEOUL: South Korea’s agricultural ministry on Wednesday said it plans to commercialise a genetic diagnostic kit for lumpy ...

Miplyffa treats Niemann-Pick disease type C, which progressively impacts the abilities to speak, swallow, and walk or move ...

Our bodies are held together by structures called connective tissue. Connective tissues make up the ligaments and tendons ...

Image Credit: Maria Pilar/Shutterstock.com Psoriasis is a chronic autoimmune skin condition that causes ... elevating ...

Whether we are predisposed to particular diseases depends to a large extent on the countless variants in our genome. However, ...