A UCLA-led study reveals that children with chromosome 22q11.2 deletion syndrome show brain hyperconnectivity before puberty ...

Further genetic testing would show that Sophie has one of a group of rare conditions called CODE (congenital diarrhea and enteropathies) that disrupts the function of cells in the intestine, causing ...

A federal advisory committee that provides guidance on which rare diseases newborns should be screened for has been dissolved ...

The Genetic Architecture of Congenital Diarrhea and Enteropathy - (https://www.nejm.org/doi/10.1056/NEJMoa2405333) ...

Mutations (blue) in U2 snRNA cause a neurodevelopmental disorder about one-fifth as common as the RNU4-2/ReNU disorder, which ...

With the annual cost estimated to be about ₹1 crore for each child requiring treatment for ultra-rare diseases, the Medical ...

A new genetic cause of neurodevelopmental disorder (NDD) has been uncovered by an international team of researchers. The ...

BENGALURU: Medical Education and Skill Development Minister Dr Sharan Prakash Patil has urged corporate houses, to adopt kids ...

Sindrom horner adalah sindrom langka yang bisa menyerang mata siapa saja, termasuk anak-anak. Faktor keturunan bisa jadi ...

Rhythm Pharmaceuticals met phase 3 endpoint for treating hypothalamic obesity, with regulatory submissions planned for 2025.

The potential for cell and gene therapies is growing, offering groundbreaking treatments for rare genetic disorders and ...