In a breakthrough study, scientists have discovered that a variant in one gene, GRIN2A, can directly cause mental illness – something previously believed to be the result of several mutations working ...

Human egg cells are often prone to chromosomal errors. As women age, the error rate increases sharply — and can contribute to infertility, pregnancy loss, and ...

The first biobank in Australia aiming to improve research and treatments into rare genetic diseases caused by changes to genes on chromosome 15, including Prader-Willi Syndrome and Angelman Syndrome, ...

A new scientific review suggests that OCD could be divided into five biological subtypes, revealing key clues for its ...

Rare Chromosome Awareness Day, celebrated in June, is an opportunity to increase public knowledge about rare chromosome and gene disorders. These conditions can lead to various physical, developmental ...

Kammy’s Kause, an annual event now in its 20th year, continues to make a significant impact in the community, bringing together people for a cause that supports individuals with rare chromosome ...

Mosaic trisomy 8 is a rare genetic condition caused by an extra chromosome. Sometimes called trisomy 8 mosaicism, this condition develops well before birth. It's a result of an abnormality in how ...

By Dr. Liji Thomas, MD A genome-wide analysis shows how our genes influence snap decisions, and why those same genetic ...

Translocations, in genetics, happen when chromosomes break and the pieces attach to other chromosomes. This mixing of genetic material has important results. The resultant chromosomes are lacking in ...

Experts at Cincinnati Children's have uncovered striking metabolic differences in people with Fanconi anemia (FA), a rare ...