Patients with CaV2.1 channelopathies face severe and often debilitating symptoms, such as seizures, migraines, tremors, and ...

Using cortical organoids from individuals with autism, researchers tracked gene activity over development. Early ...

Unique mutations in the H5N1 strain enhance replication in human cells and cause severe disease in mice. The virus has spread from birds to mammals, including dairy cows, and infected humans, with one ...

Gene-editing tools like CRISPR have unlocked new treatments for previously uncurable diseases. Now, researchers at the ...

Researchers have discovered new regions of the human genome particularly vulnerable to mutations. These altered stretches of DNA can be passed down to future generations and are important for how we ...

UCLA Health researchers have created a comprehensive map showing how eight different genetic mutations associated with autism ...

Traditional biochemical methods of studying human gene mutations are often laborious and costly. Now bioengineers at the University of California San Diego have developed a new simple approach to ...

In 1992, Judith Frydman, PhD, discovered a molecular complex with an essential purpose in all of our cells: folding proteins correctly. The complex, a type of "protein chaperone" known as TRiC, helps ...

Scientists have revealed parts of the genome that are especially vulnerable to mutations that occur very early on in development. These areas are in the initial portions of genes, where the cell tends ...