Rare Diseases are Not Rare – A Training on Rare Disease Resources

A rare disease is defined as any disease that affects fewer than 200,000 people in the United States. There are over 7,000 known rare diseases with new diseases being discovered every year. An estimated 30 million people in the U.S. are likely to have one or more rare diseases and individuals living with a rare disease often face collective challenges. It can take up to 15 years for a patient to be diagnosed and require seeing multiple medical specialists. Their estimated yearly medical care costs total about $400 billion, which is on par with common diseases like cancer, heart failure and Alzheimer’s disease. Safe, effective treatments exist for only about 5% of more than 7,000 known rare diseases. Dr. Eric W.K. Sid and Meera A. Shah, with the Office of Rare Diseases Research (ORDR) at the National Center for Translational Sciences (NCATS) will discuss the challenges rare disease patients and caregivers go through finding a diagnosis. Dr. Sid will also share resources that can be used to help the rare disease community.

Objectives:
After this training, participants will be able to:

-Understand what defines a rare disease
-Know more about rare diseases and the patient diagnosis journey
-Learn more about the importance of research in the diagnosis and treatment of rare diseases
-Learn more about resources that health and health information professionals can use to support individuals with rare diseases
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American Sign Language Interpretation and Closed Captioning are provided.

This class is sponsored by the NNLM All of Us National Program.
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About the Presenters
Dr. Eric Sid
Eric Sid is a program officer in the Office of Rare Diseases Research (ORDR) in, where he is the lead for the Genetic and Rare Diseases (GARD) Information Center. Sid is the lead for the Rare Diseases Registry (RaDaR) program, which offers guidance for establishing and maintaining patient registries. He also oversees the NCATS Toolkit for Patient-Focused Therapy Development, which disseminates best practices for patient-partnered research through collaborations between patients and caregivers, community organizations, researchers and NIH/U.S. Food and Drug Administration staff. He has worked to modernize the services and resources offered by these programs through participation in innovation initiatives from the Department of Health and Human Services (HHS), including the HHS Ignite Accelerator and HHS Data Science Co-Lab.

Sid received his M.D. and M.H.A. degrees from the University of Washington’s School of Medicine and School of Public Health, respectively. In 2019, he completed his Presidential Management Fellowship, which included a rotation with the VA Center for the Study of Healthcare Innovation, Implementation and Policy of the VA Greater Los Angeles Healthcare System. The PMF program is the premier leadership development program for the federal government.

Meera Shah, MPH

Meera Shah joined the NCATS Office of Rare Diseases Research (ORDR) as a program analyst in December 2018. She works with the ORDR team on numerous projects and programs to advance diagnosis of and treatment for rare diseases through research. Shah also manages communication efforts for ORDR.

Prior to joining NCATS, Shah spent two years at the National Institute of Mental Health (NIMH) in its Intramural Research Program (IRP), where she worked as a program specialist in the Office of Fellowship Training. Shah primarily worked on establishing a science communication training series, developing website content, and collecting and analyzing NIMH IRP fellowship data.

Shah received her bachelor’s degree in health sciences from the University of South Florida and her Master of Public Health degree from George Washington University.

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