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Rare Diseases

On the Front Lines of Rare Disease Research

Dr. Petra Kaufmann and U.S. Rep. Joseph Crowley, co-chair of the Rare Disease Congressional Caucus, visit the "Beyond the Diagnosis" exhibit at the NIH Clinical Center. They are shown with a painting by artist Tom Hughes of Devon, who has atypical hemolytic uremic syndrome.
Photo courtesy of: Daniel Sone

The Genetic and Rare Diseases (GARD) Information Center is a program of the NIH's National Center for Advancing Translational Sciences (NCATS). The GARD Information Center provides current, reliable, and easy-to-understand information about rare or genetic diseases in English and Spanish.

Dr. Petra Kaufmann is director of NCATS' Office of Rare Diseases Research, which includes GARD. She also directs NCATS' Division of Clinical Innovation. She recently discussed rare diseases and ongoing research with NIH MedlinePlus magazine.

Many people may not hear about research on rare diseases. Why is this research important for all of us?

There are more than 6,500 rare diseases, and only a few hundred have any treatment. While each rare disease affects fewer than 200,000 people, these conditions, in total, affect an estimated 25 million in the United States. Rare diseases are devastating and costly for patients, families, and the nation as a whole. This is partly due to the severity of these conditions, but also because diagnosis can be difficult and often only possible well after symptoms have appeared.

"Having four children myself, I can only imagine what it means for families when they find out that their child has a rare disease."

—Dr. Petra Kaufmann, Director, NCATS
Office of Rare Diseases Research
and Division of Clinical Innovation

What motivated you to help explore research on rare diseases?

As a medical student, I saw my first patient with muscular dystrophy. The lack of available treatments prompted me to seek training and research opportunities so that I could help make a difference for patients with rare diseases, such as muscular dystrophies. I have since conducted laboratory and clinical research, and led rare diseases research programs, including clinical trials in academia.

As the director of the National Institute of Neurological Disorders and Stroke's Office of Clinical Research, I helped develop NeuroNEXT, a network for neurological trials, most of them in rare diseases. As a clinician, I have worked in the adult and pediatric neuromuscular clinics at Columbia University, and I currently volunteer as an attending physician in the Muscular Dystrophy Association Clinic at Children's National Medical Center. This work gives me continued motivation to make a difference for patients with rare diseases and their families.

Is there progress being made on finding solutions for some rare diseases today?

NCATS tackles rare diseases through collaborative research to study the commonalities and underlying molecular causes of these disorders. There is indeed progress in understanding and discovering therapeutics for some rare diseases. For example, researchers at the Rare Lung Diseases Consortium, which is part of the NCATS Rare Diseases Clinical Research Network, developed a treatment approved by the U.S. Food and Drug Administration (FDA) last year for lymphangioleiomyomatosis, a rare lung disease that affects women of childbearing age.

In addition, in January 2016, Vtesse, Inc., announced that the FDA granted breakthrough therapy designation status to the company's drug candidate, VTS-270, for treatment of Niemann-Pick disease type C1. Researchers supported through NCATS' Therapeutics for Rare and Neglected Diseases program and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, in close collaboration with Vtesse, patients, and patient advocacy groups, developed VTS-270 as part of a project focused on finding treatments for this lipid storage disease.

Additional NCATS programs and initiatives that support rare diseases research include but are not limited to the following: Genetic and Rare Diseases Information Center, Global Rare Diseases Patient Registry Data Repository, and our Clinical and Translational Science Awards Program.

Find Out More

How important is medical research on rare diseases to my family and me?

Having four children myself, I can only imagine what it means for families when they find out that their child has a rare disease. Medical research is critical, not only because it can advance the diagnosis and treatment for rare diseases, but also because it brings hope to people living with rare diseases. In addition, rare diseases research has the potential to speed the development of treatments for more common diseases at the same time.

GARD is funded by two parts of the National Institutes of Health (NIH): NCATS and the National Human Genome Research Institute (NHGRI).

Read More "Rare Diseases" Articles

Putting A Face On Rare Diseases / "Beyond the Diagnosis" Making the Invisible Patients Visible / On the Front Lines of Rare Disease Research

Spring 2016 Issue: Volume 11 Number 1 Page 18-19