Rare Disease Day 2010

Rare Disease Day 2010

Patients and Researchers, Partners for Life!

Join the National Human Genome Research Institute (NHGRI) in helping raise awareness of rare diseases by observing Rare Disease Day on Sunday, February 28, 2010. The event is coordinated in the United States by the National Organization for Rare Disorders and is supported in part by the NIH Office of Rare Diseases Research. This year's focus is Bridging Patients and Researchers to celebrate this vital partnership.

 

Nearly 30 million Americans are affected by one of 7,000 rare diseases. About 80 percent of rare diseases are genetic in origin and about 75 percent affect children. Rare diseases can be chronic, progressive, debilitating, disabling and life-threatening. Information is often scarce and research is usually insufficient. People affected face challenges such as delays in obtaining a diagnosis, misdiagnosis, psychological burden and lack of patient and family support services. The goal of rare disease advocates is to obtain for patients the highest attainable standard of health and the resources required to overcome common obstacles in their lives.

The Discovery Health Network is scheduled to air Disease Detectives, a special that showcases the NIH Undiagnosed Diseases Program, at 8 p.m. Eastern on Sunday, Feb. 28, 2010, Rare Disease Day 2010. The NIH Undiagnosed Diseases Program was launched in May 2008 to study mysterious conditions that have long eluded diagnosis, and to advance medical knowledge about rare and common diseases. It is a trans-NIH program organized by the National Human Genome Research Institute, the NIH Office of Rare Diseases Research, and the NIH Clinical Center.

NHGRI Information and Resources about Rare Diseases for Students, Teachers, Patients and Families, Researchers and Healthcare Professionals

Genetic and Rare Diseases Information Center (GARD)
Established by NHGRI and the NIH Office of Rare Disease Research, GARD was established to help people find useful information about genetic conditions and rare diseases. The center is staffed by experienced information specialists to answer questions in English and Spanish.

Frequently Asked Questions About Genetic and Rare Diseases
Find out about genetic and rare disorders, genetic testing, genetic counseling and evaluation, and more.

Rare Disease Research Involving NHGRI Researchers

NIH Therapeutics for Rare and Neglected Diseases (TRND) [trnd.nih.gov]
Launched in 2009, NIH's TRND project, which involves NHGRI researchers, is the first integrated, drug development pipeline to accelerate the production of new treatments for rare and neglected diseases.

NIH Undiagnosed Diseases Program [rarediseases.info.nih.gov]
NHGRI clinical researchers play a prominent role in this NIH clinical research program that aims to provide answers to patients with mysterious conditions that have long eluded diagnosis. The Undiagnosed Diseases Program, focuses on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Md., by physicians across the nation.

Specific Genetic Disorders
Other NHGRI Research on genetic, orphan and rare diseases.

Find out more about Rare Disease Day and how YOU can get involved.

• Visit NORD's Rare Disease Day Web site [rarediseaseday.us]
• Visit the NIH Office of Rare Diseases Research Rare Disease Day Web page [rarediseases.info.nih.gov]