It has been 40 years since the Orphan Drug Act was passed by the United States Congress to incentivize the development of treatments for "orphan", meaning rare, diseases. In 2022 Congress also passed the Rare Diseases Act to amend the Public Health Service to form an Office for Rare Diseases within the National Institutes of Health. One of the research areas within my laboratory targets orphan inherited pediatric retinal diseases. Diseases rarer than Retinitis Pigmentosa (RP) which is itself considered rare. These conditions include FEVR (Familial Exudative Vitreo-Retinopathy), Norrie Disease, Persistent Fetal Vascular Syndrom, and Retinoschisis. The first three conditions cause incomplete development of the blood supply for the neural retina within our eyes, causing blindness. The latter condition results in a very delicate neural retina where the layers of the retina can separate and become filled with liquid. This condition also causes blindness. All of these orphan diseases affect infants and children of all ages. Our lab at Oakland University, in the Eye Research Institute, carries out research DNA-sequencing for Families with these conditions who present at Associated Retinal Consultants here in Michigan. Families are from all over the country and also outside of the United States. Funding is difficult to find for rare disease research, but we seek support from a few private foundations so that no Family pays for the research DNA sequencing that we do. OU science students and OUWB medical students take part and learn about applied human genetics.
In North America, the National Organization for Rare Disorders (NORD), is a partner with several similar regional organizations to facilitate awareness and support for rare diseases around the globe. While rare diseases may have fewer affected persons, there are many different rare diseases and together they impact over 300 million people around the world. Do you have a rare disease or know someone with a rare disease? Seeking information? Please visit the NORD website. Please also share this blog post to increase awareness. February 28th is Rare Disease Day in 2023.
PS Thanks to the Carls Foundation and Pediatric Retinal Research Foundation of Michigan for making our lab's research DNA-sequencing for Families possible in 2023.