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Office of Communications & Media Relations

NIH Clinical Center News Release

For Immediate Release
Wednesday, February 19, 2020

10th Annual Rare Disease Day at NIH on February 28;

Patients share their personal journeys navigating life with rare diseases;
Clinicians and researchers discuss the latest innovations in improving diagnosis and treatments of rare diseases

One in 10 people in the U.S have a rare disease, yet getting an accurate diagnosis and treatment is often a challenge. For many rare disorders, many of which affect children, there is a lack of information about disease symptoms, biology and progression over time. It may take years — and an exhausting battery of tests, procedures and visits to multiple institutions — to obtain the correct diagnosis. Even with a diagnosis, only about 5 percent of rare diseases have an effective treatment.

Rare Disease Day at NIH is an annual event that brings together patients, their families, clinicians and researchers, rare disease organizations, and government agencies. This year’s event will focus on innovations in shortening diagnosis time; cutting-edge research for developing treatments for individual rare diseases; new biomedical and genetic insights that are being applied across many rare disease conditions; and the crucial role patients and their families play in supporting research to bring hope to others.

See more information about the 10th annual Rare Disease Day at NIH below, including event highlights, and view the full agenda at https://ncats.nih.gov/rdd.

WHAT: Rare Disease Day at NIH

WHEN: Friday, February 28, 2020, 8:30 a.m. to 4:30 p.m. ET

WHERE: Natcher Conference Center in Building 45 on the NIH main campus in Bethesda, Maryland

HIGHLIGHTED SPEAKERS:

  • Christopher P. Austin, M.D., Director, National Center for Advancing Translational Sciences (NCATS), NIH
  • James K. Gilman, M.D., CEO, Clinical Center, NIH
  • Timothy Yu, M.D., Ph.D., Assistant Professor, Pediatrics, Harvard Medical School and Boston Children’s Hospital
  • Julia Vitarello, Founder and CEO, Mila’s Miracle Foundation
  • Stephen Kingsmore, M.D., CEO and President, Rady Children’s Institute for Genomic Medicine

RSVP:
Steven Benowitz
steven.benowitz@nih.gov, 301-435-0888
Maria Maslennikov
masm@mail.nih.gov, 301-978-6199

MORE INFORMATION: Visit https://ncats.nih.gov/rdd to view the agenda and register to attend in-person or via videocast. Learn more about rare diseases at https://rarediseases.info.nih.gov.

Rare Disease Day at NIH Selected Highlights

Groundbreaking and Faster Diagnoses to Improve Patient’s Lives: A nascent but promising advance allowing doctors to sequence a newborn’s entire DNA in a day — making it easier to identify rare disease — is one of many genomic tests and other clinical approaches being discussed. Also, patients and family members will share their painstaking search for a diagnosis and hope for a treatment.

What Works for One May Work for Many: Clinicians and researchers are taking novel approaches to treating individual patients with a rare disease that not only help their patient but may provide the foundation for other treatments for rare diseases. A mother of a patient and doctor will share the story of how they developed a personalized therapy that entered clinical treatment in only one year and how this process could be replicated to help others with different diseases.

Expanding Rare Disease Treatment by Expanding Access to Experts: Rare diseases often require specialized expertise to properly diagnose and treat. Access to these experts can be sparse and patients may often have to spend a great amount of time and money traveling to find doctors. Project ECHO (Extension for Community Healthcare Outcomes) uses videoconferencing systems to connect specialists around the country to local community physicians who want to meet the needs of their patients with less known and challenging diseases. The ECHO model makes best use of this specialized knowledge to care for patients and solve problems. 

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About the National Center for Advancing Translational Sciences (NCATS): NCATS conducts and supports research on the science and operation of translation — the process by which interventions to improve health are developed and implemented — to allow more treatments to get to more patients more quickly. For more information about NCATS, visit https://ncats.nih.gov.

About the NIH Clinical Center: The NIH Clinical Center is the clinical research hospital for the National Institutes of Health. Through clinical research, clinician-investigators translate laboratory discoveries into better treatments, therapies and interventions to improve the nation's health. More information: https://clinicalcenter.nih.gov.

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.

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This page last updated on 02/28/2020

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