Most congenital disabilities are genetic even if they are not inherited, such as Down’s Syndrome which is characterised by an extra chromosome. Neurodivergent conditions, including autism, are also ...

Please note that the GEM Study closed to recruitment in September 2024. If you joined the study and did not return your DNA sample, please note that the saliva collection kit you were sent is now out ...

Pompe disease treatment market grows with advances in ERT and gene therapy, improving patient outcomes and access.

PORTLAND, Maine (WGME) -- MaineHealth Barbara Bush Children's Hospital is crucial to so many families, some of which are ...

and Pompe Disease, among others. The NIMS Medical Genetics department was founded in 2008 as the second such department in a government institution in India. In recognition of its outstanding ...

As a proof of principle, they generated a 3D interactive atlas of the brain in both normal mice and mouse models of Alzheimer's and Pompe disease, a rare genetic disorder. Sun's lab has made its ...

The company’s most advanced programmes are in Pompe disease – a rare genetic disease causing buildup of a sugar molecule inside cells – Parkinson’s disease and congestive heart failure.

Genetic disorders arise from DNA abnormalities, leading to conditions such as Pompe disease. These mutations can result in monogenic or polygenic disorders or chromosomal structural changes.

Patients suffering from rare diseases are facing severe difficulties due to delays in receiving timely financial aid and ...