Rare Diseases: The Biggest Screen

Shortly after coming across a story about a mother and father who are forced to relocate to another country in order to obtain treatment for their baby son’s rare disease, we took notice of another American family with a child who shares a disease with less than thirty people in the United States take matters into their own hands and pursue the development of a possible treatment. Their story is documented in an upcoming film, “RARE”.

Ashley Appell suffers from a rare genetic disorder called Hermansky-Pudlak Syndrome (HPS) which includes albinism, blindness, bleeding disorders and pulmonary fibrosis. Her mother, Donna, was informed that the disease would only allow Ashley to live up to her thirties.

There were no known cures and trials for therapeutics were not conducted due to the small and obscure patient pool. With the help of the internet, Donna was able to set up an advocacy group to bring together as many patients possible who suffered from the same illness in hopes of filling a drug trial to approve the drug that could possibly extend her daughter’s life. With her advocacy group now in the hundreds, the NIH has agreed to start a clinical trial.

With the increasing pressures of the pharmaceutical industry to come out with new drugs in the pipeline with decreased funding, rather than continuing to bang their heads in order to find the next blockbuster drug, leaders in the field of drug discovery and development should change their approach to address the concerns of similar patient advocacy groups for orphan and rare diseases. The pharmaceutical industry could reduce its costs by collaborating with these groups because the patient pool has already been established, essentially filling in part of the drug research process.

Scientist strongly supports rare disease advocacy groups and believes that these groups and drug discovery researchers can truly work together to find treatments to bring relief to millions. Together with the Rare Genomics Institute, Scientist launched the Rare Disease Challenge in hopes of promoting exposure for rare diseases and gathering the brightest minds to conduct the “big screen” for the next therapeutic against rare diseases.