Freya 4, has been diagnosed with a rare metabolic disorder called hereditary fructose intolerance (HFI) ...

A study, led by experts at the University of Nottingham, has found that persistent and distressing upper gut symptoms ...

Individuals that share the same deletion of a portion of chromosome 16 are at risk of developing neurodevelopmental disorders ...

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 ...

CUP is leading the project in Punjab in collaboration with the AIIMS, Bathinda; Guru Gobind Singh Medical College and ...

The study focused on rare DNA damage-repair (DDR) disorders, including Ataxia-Telangiectasia (A-T) and Bloom syndrome. These ...

Genome-wide association studies identify genetic overlap among disorders, providing evidence that their distinctions may be misleading One major difference between psychiatric disorders and purely ...