Developing Treatments for Rare Diseases on a Shoestring

There are thousands of rare genetic diseases lacking an approved treatment, many of which are life limiting to children. Those caused by a missing protein may represent a target for protein replacement either by enzyme replacement therapy or by gene therapy. One of the many challenges working on these types of genetic diseases is the availability of funding, as these diseases typically affect very small number of patients. Here we offer a novel case study of our approach to developing a treatment for one such rare disease, which has not required venture capital, angel investment, or funding by foundations to date. We have instead pursued NIH small business grants to fund the early preclinical work performed by our academic collaborators and ourselves. Our approach to developing a treatment for a rare disease on a shoestring budget is unlike any of the alternative approaches to funding.