Scientists at UC San Diego School of Medicine and Rady Children’s Institute of Genomic Medicine describe novel methods for inferring the movement of human brain cells during fetal development by studying healthy adult individuals who have recently passed away from natural causes.
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.