For decades, the standard explanation for autoimmune diseases like rheumatoid arthritis has rested on two pillars: inherited ...

What causes autoimmune disease? A new study finds that somatic mutations in immune checkpoint genes like PDL1 trigger the immune system to attack the body.

New research suggests that autoimmune diseases may be driven by DNA mutations in immune cells that remove the natural brakes on the immune system. It reveals a previously hidden role for somatic ...

Although the genetic cause of many diseases have been identified, it’s estimated that as many as 70% of patients with a rare disorder do not know what causes their disease. Millions of people live ...

From decoding hidden genetic mutations to testing novel treatments, scientists are making real progress against rare inherited eye diseases. These breakthroughs could mean earlier diagnoses, targeted ...

Wounded and elderly patients are being evacuated by train from embattled east Ukraine - Copyright AFP Ishara S. KODIKARA Wounded and elderly patients are being ...

Our DNA is compacted and arranged into chromosomes, most of which are shaped like X’s. The ends of the chromosomes' arms are protected with caps known as telomeres. Telomeres are made up of highly ...

A genetic mutation found in four children born with multiple abnormalities may provide insight into potential treatments for newborn lung distress and chronic obstructive pulmonary disease (COPD). The ...

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 ...

Some genetic disorders-such as cystic fibrosis, hemophilia and Tay Sachs disease-involve many mutations in a person's genome, often with enough variation that even two individuals who share the same ...

Mutations in the ATP‐binding cassette transporter A3 (ABCA3) gene are increasingly recognised as a significant contributor to interstitial lung disease (ILD) in infants and children. ABCA3 plays a ...