We are a nonprofit medical research and advocacy organization committed to spark breakthroughs in treatments and cures for rare genetic disorders, including lysosomal storage diseases, uncommon cancers and other orphan diseases.
What is rare disorder?
Any disease affecting fewer than 200,000 Americans is considered rare. There are nearly 7,000 such diseases affecting nearly 30 million Americans. Ultra rare disorders are diseases which affect fewer than 6,000 patients in the U.S. Only about 5% of known rare diseases currently have treatments of any kind.
WHAT IS AN ORPHAN DISEASE?
An orphan disease has not been "adopted" by the pharmaceutical industry because it provides little financial incentive for the private sector to make and market new medications to treat or prevent it. There are two main categories of orphan diseases: 1) A rare disease. 2) A common disease, such as tuberculosis, typhoid, or malaria, which has been ignored because it is far more prevalent in developing countries than in the developed world.
Gene Spotlight is a 501 (c)(3) not-for-profit organization. The success of Gene Spotlight’s efforts and our mission as a whole depend on the generosity of our supporters. You can make a tax-deductible donation to fund solutions for families affected by rare genetic disorders.