Scientists at Gladstone Institutes have flipped the traditional approach to finding potential treatments for deadly diseases.

Exclusive: One in four wait at least three years for diagnosis and many face treatment ‘access lottery’, according to report ...

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 ...

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 addition of PacBio to the iHope network will further expand diagnostic access worldwide DAMASCUS, MD, UNITED ...

Since its launch in 2022, the programme has reduced the time to diagnosis from a global average of 7.6 years to just weeks.

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 ...

A rare inherited neurodevelopmental disorder has been officially named after an Abu Dhabi-based geneticist at Burjeel Medical ...

An autoimmune disorder that affects the thyroid gland, called autoimmune hypothyroidism (AIHT), is the most common autoimmune disease, yet it remains largely understudied. New research from scientists ...

Sex chromosomes are chromosomes, or packages of DNA, that are found inside the nucleus of all of your cells. There are two different kinds: X and Y, which determine whether you’re biologically male ...