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

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 ...

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 ...

Men losing Y chromosomes as they age may face a higher risk of heart disease, cancer, and reduced life expectancy. Here’s ...

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

Sidra Medicine, a member of Qatar Foundation, has highlighted the real-world impact of precision medicine on a six-year-old patient with a rare genetic condition. Marking Rare Disease Day observed ...

Rare genetic disorders are typically caused by a variant in a single gene. It is estimated that there are over 7000 such conditions, meaning that although individually rare, they are collectively ...

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 ...

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 ...