What is a rare disease? 

The current definition of “rare disease,” defined by the “Rare Disease Act of 2002,” is a disease or disorder with a population of less than 200,000 affected individuals within the United States.  While many of these diseases are largely unknown to the public, at the time of legislation, well-known and studied diseases such as Huntington’s disease, cystic fibrosis, Crohn’s disease, and Duchenne muscular dystrophy were classified as rare.




Rare Disease Act of 2002

Public Law 107–280 was passed Nov. 6, 2002.  Its purpose is “To amend the Public Health Service Act to establish an Office of Rare Diseases at the National Institutes of Health, and for other purposes.”

Orphan Drug Act

Public Law 97-414 is based on the finding that there are many diseases and conditions which affect such small numbers of individuals residing in the United States and for which adequate drugs have not been developed that “it is in the public interest to provide such changes and incentives for the development of orphan drugs.”


Resource and Innovation Groups

National Organization of Rare Disorders (NORD)

“The National Organization for Rare Disorders (NORD), a 501(c)(3) organization, is a unique federation of voluntary health organizations dedicated to helping people with rare “orphan” diseases and assisting the organizations that serve them.”

Pediatric Device Consortia (PDC)

The Pediatric Device Consortium is” a group of physicians, engineers, scientists and others… all inventors working together to develop medical devices designed especially for children.”


Government Offices

NIH Office of Rare Disease

“The Office of Rare Diseases Research (ORDR) was established in 1993 within the Office of the Director of the National Institutes of Health (NIH), the Federal focal point for biomedical research.”

FDA Office of Orphan Products Development (OOPD) 

“The FDA Office of Orphan Products Development (OOPD) mission is to advance the evaluation and development of products (drugs, biologics, devices, or medical foods) that demonstrate promise for the diagnosis and/or treatment of rare diseases or conditions.”


Grant Programs

Orphan Products Grant Program

“The goal of the Orphan Products Grants Program is to encourage clinical development of products for use in rare diseases or conditions.  The products studied can be drugs, biologics, medical devices, or medical foods.”

Rare Diseases featured by the CTC

Amyotrophic Lateral Sclerosis (ALS)