Johns Hopkins Medicine researchers, in collaboration with national and international researchers, have identified a genetic mutation in a small number of children with a rare type of inflammatory bowel disease. The discovery of the mutation, which weakens the activity of a protein linked to how the immune system fights viruses in the gut, may help researchers pinpoint the cause of more common bowel diseases, investigators say.
A meta-analysis of nearly 200,000 men revealed 22 new genetic locations that could be susceptible to inherited testicular germ cell tumors.
A new mutation found in a gene associated with an increased risk of atrial fibrillation poses a significantly increased risk for heart failure in Black people.
Scientists have discovered a new variant of SARS-Cov-2, the virus that causes COVID-19. It carries a mutation identical to the U.K. strain, but it likely arose in a virus strain already in the U.S. The researchers also report the evolution of another U.S. strain that acquired three other gene mutations not previously seen together in SARS-CoV2.
Genomic research helps explain why some people with a common TP53 mutation widespread in Brazil get cancer while others do not.
New Approach Will Lead to a Better Understanding of Most Cases
A phase three clinical trial that UT Southwestern participated in determined that a three-drug combination improved lung function and reduced symptoms in cystic fibrosis (CF) patients who have a single copy of the most common genetic mutation for the disease.