For patients with disorders such as autism and schizophrenia, mutations in the same gene could require different treatments, ...

Hemophilia, a rare inherited bleeding disorder, is primarily caused by mutations in specific genes that impair the body’s ...

At the largest level, whole chromosomes or even whole copies ... of new genes (by pasting material from different genes together). A single mutation can have a large effect, but in many cases ...

Innovative genetic testing methods are reshaping reproductive health, offering early detection of genetic conditions and ...

Simplistically, mutations may involve the substitution, deletion, addition, or rearrangement of base pairs. In some cases, parts of two chromosomes may be interchanged (translocation). Genes and ...

The scientists used a combination of short- and long-read sequencing data to assemble and analyze genomes from 28 members of the same family.

An Israeli study has identified TRIM63 as a significant genetic contributor to hypertrophic cardiomyopathy (HCM)—the most ...

Researchers have uncovered a surprising mechanism by which a single genetic mutation in the BCL11B gene causes both immune dysfunction and brain development issues.

The Clinical Genetics and Genetic Counseling Service at Fred Hutch ... The most commonly tested genes are the BRCA1 and BRCA2 genes. Disease-causing mutations (changes) in these genes have been linked ...

Hair genetics can come from either parent ... in hair loss between male parents and their male children, which mutations in the AR gene cannot solely explain. Researchers are still working ...

Genetics can also influence whether you’ll get this disease. Several gene mutations have been linked to the development of type 2 diabetes. These gene mutations can interact with the environment ...