Non-profit organisations play a crucial role in supporting rare disease therapy development and rescuing shelved programmes, ...

As of Thursday, February 26, Sarepta Therapeutics, Inc.’s SRPT share price has dipped by 12.49%, which has investors questioning if this is right time to buy.

Blepharophimosis syndrome (BPES, MIM 110100) is a rare eyelid malformation characterized by (1) a reduced size of the palpebral fissures (blepharophimosis), (2) falling of the eyelids (ptosis) and (3) ...

To facilitate the positional cloning of the genes involved in retinoschisis (RS), keratosis follicularis spinulosa decalvans (KFSD), Coffin-Lowry syndrome (CLS), X-linked hypophosphatemic rickets (XLH ...