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

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

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 ...

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 ...

Researchers from the Francis Crick Institute, UCL, Gustave Roussy and Memorial Sloan Kettering Cancer Center (MSK), have ...

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

A seminal study has uncovered a new genetic cause of neurodevelopmental disorders (NDDs). The discovery offers both closure and hope to potentially thousands of families worldwide who have long been ...

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 AIP gene is located on the 11th chromosome (Figure 1). Patients with an AIP mutation have one normal copy of the gene and one abnormal copy. This is called a heterozygote state. Figure 1. The AIP ...

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 ...