Orphan: The Quest to Save Children with Rare Genetic Disorders


“It is extremely difficult to meet the scientific, clinical, and regulatory challenges of drug development, but each year more groups determine that they will take on those challenges. Today, there are new partners in the mix of groups that develop novel drugs. Parents of children with rare genetic disorders have emerged as influential players at the biotech table. Foundations created by parents who refuse to surrender to rare disorders develop patient registries, support natural history studies, contribute to discussions about what constitutes approvable clinical end points, raise money to fund research, lobby regulatory agencies to be more innovative in how they oversee clinical trials, and push hard to have Congress earmark more research dollars for their diseases. As anyone who has had close contact with families that include children with severe genetic disorders knows, there are countless numbers who rise each day determined to move mountains.”

— from Orphan, Introduction, page XVII

Here are some of the organizations mentioned in Orphan.   Contact us to add yours.


National Organization for Rare Disorders:   http://rarediseases.org/

Dystrophic Epidermolysis Bullosa Research Association of America:   http://www.debra.org/

National Tay-Sachs & Allied Diseases Association (NTSAD):   http://ntsad.org/

The Friedreich's Ataxia Research Alliance (FARA):   http://www.curefa.org/index.php

FRAXA Research Foundation:http://www.fraxa.org/

National Foundation for Ectodermal Dysplasias:   http://nfed.org/

Rett Syndrome Research Trust:   http://www.rsrt.org/

Grace Wilsey Foundation:   https://gracewilsey.org/

Cystic Fibrosis Foundation:   http://www.cff.org/