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NIH MedlinePlus the Magazine, Trusted Health Information from the National Institutes of Health

The Promise and Payoff of Rare Diseases Research, From NIH Director Dr. Francis S. Collins

NIH Director, Dr. Francis S. Collins

NIH Director, Dr. Francis S. Collins
Photo: NIH

Francis S. Collins, M.D., Ph.D., Director of the National Institutes of Health, led the successful effort to complete the Human Genome Project, a complex multidisciplinary scientific enterprise to map and sequence human DNA. He spoke recently with NIH MedlinePlus magazine about the increasing promise of genetics research to the investigation and diagnosis of rare diseases.

Why should we focus on rare diseases when they affect so few people?

If you or your family were affected, it wouldn’t be rare for you. And the study of rare diseases has taught us more than most people realize. Furthermore, the opportunities to capitalize on what we have learned so far have never been greater. If you care at all about biology and about understanding medicine, rare diseases are critical.

How many rare diseases are there?

Altogether, rare diseases affect almost 25 million Americans. Worldwide, there are more than 6,000 that have an impact on people.

How much progress has there been toward understanding rare diseases?

The good news is that we have learned a lot about the molecular basis of many of those that are caused by single genes that have gone awry. The bad news is that treatments are available for fewer than 200 of them at the present time.

How much does the mapping of the human genome help?

The Human Genome Project has provided many of the tools that have made it possible to reach our current understanding about the molecular causes of disease. But, I think it’s fair to say that most of what we’ve learned from the genome project has not yet been applied. We want to accelerate that process. And that’s one of my goals.

What is the state of the art of genetics and disease now?

The ability to identify the molecular basis of a disease, even a very rare one, has progressed rapidly. The challenge now is to develop clinical interventions in fewer than the 20 to 30 years it takes through traditional research methods.

Have you an example of a disease on which there has been substantial progress?

It has been just eight years since the cause of progeria, a rare childhood disease that causes rapid aging, was discovered in my lab. And we now have kids in clinical trials, some of them for more than two years. We were lucky here because the gene involved turned out to be one that we knew a lot about. And we were particularly lucky because that information suggested use of a drug that was developed for an entirely different reason; a “repurposing,” if you will. That will happen from time to time, and we should not miss such opportunities.

“The challenge is to cross the gulf between the molecular understanding we now have of thousands of diseases and treatment for them. This is where NIH plays a critical role in funding the necessary applied research.”

— NIH Director Dr. Francis Collins

Any other diseases with similar progress?

Yes. Research is showing significant potential for cystic fibrosis, sickle cell anemia, Niemann-Pick Disease Type C, and Fragile X syndrome.

What does the research future hold?

The challenge is to cross the gulf between the molecular understanding we now have of thousands of diseases and develop treatments for them. And this is where NIH can play a critical role in supporting the necessary translational research.

More Information About Genetic and Rare Diseases

Two agencies at the National Institutes of Health (NIH)—the National Human Genome Research Institute (NHGRI) and the Office of Rare Diseases (ORD)—created the Genetic and Rare Diseases Information Center (GARD) to help people find useful information, in English or Spanish, about genetic and rare diseases.

Information is often hard to find for many genetic and rare diseases. Even if you can find information, it is often hard to know if it is correct. GARD can help you if you want to know more about a genetic or rare disease for yourself, a family member, a friend, or someone you take care of. GARD can provide you with timely and correct information. Learn more at

What can GARD do for you?

Information Specialists will search for answers to your questions and help you understand:

  • What is known about the disease.
  • What research studies are going on.
  • What genetic testing and services are available.
  • Which advocacy groups you can contact.
  • What has been written recently about the disease in medical journals.

How do I contact GARD?

You can talk to an Information Specialist, from noon to 6 p.m. Eastern time by:

  • Telephone: 1-888-205-2311
  • TTY: 1-888-205-3223
  • International number: (301) 251-4925

You can write to GARD anytime by:

  • E-mail:
  • Letter:
    Genetic and Rare Diseases Information Center
    P.O. Box 8126
    Gaithersburg, MD 20898-8126
  • Fax: (301) 251-4911


Spring 2011 Issue: Volume 6 Number 1 Page 2-3