Rare Diseases
The Problem
A rare or “orphan” disease by definition affects a small numbers of patients, and such diseases historically have received less drug discovery research compared with more common diseases from which higher prescription revenues can recoup the rising costs of drug development. However, collectively rare diseases are not rare; there are more than 8000 of them afflicting anywhere from 200,000 patients to a just a few individuals. Altogether, there is twice the number of people with a rare disease as there are people affected by diabetes. One of the most significant challenges facing rare disease patients is the translation of basic discoveries made in academic laboratories into practical treatments. Success with a new approach to treat one orphan disease will often suggest ways to benefit other disorders, rare and common alike.
Our Efforts
The Center for World Health & Medicine works opportunistically on rare disease projects, prioritizing opportunities that bring together 1) collaboration with a strong disease expert, 2) knowledge of the underlying biochemical mechanisms, and 3) promising potential for drug modulation. Research is currently conducted for the following diseases in need of effective therapies. Please inquire for further details.
Familial Exudative Proliferative Vitreoretinopathy (FEVR) – A genetic disorder that prevents proper development of the retina, often leading to vision loss that begins in children.
Idiopathic Pulmonary Fibrosis (IPF) – A chronic progressive lung disease, often fatal, that is characterized by extensive scarring of lung tissue.
Facioscapulohumeral Muscular Dystrophy (FSHD) – A form of muscular dystrophy, usually diagnosed in adolescence to early adulthood, associated with progressive skeletal muscle weakness.