Gene therapy has the potential to dramatically benefit patients with genetic blood disorders, but a small study on participants in a clinical trial for sickle cell disease suggests that a key process ...

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 ...

Leukemia is a cancer that affects the blood cells and develops in blood-forming tissues like the bone marrow. Leukemia occurs ...

Mutations in the tumor suppressor TP53 are a common cause of cancer, making the altered protein an attractive target for ...

(SALT LAKE CITY)--A gene mutation associated with a rare sleep disorder surprisingly also contributes to debilitating migraines, a new study led by University of Utah researchers shows. The discovery ...

Researchers at Baylor College of Medicine and collaborating institutions report in the journal Nature Communications how a mutation in the enzyme SKD3 can cause a form of a genetic disease known as ...

Most mutations that cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a major study of human protein variants that was published in Nature ...

An international research team reveals new molecular mechanisms associated with pathogenic mutations in the protein ...

Fanconi anemia is an aggressive, life-threatening disorder. Most individuals living with this rare genetic condition, characterized by bone marrow failure and cancer predisposition, survive into ...

Influenza cases are down across the United States, but a new flu strain mutation identified in August is causing a spike in hospitalizations.