Rare Disease Day at NIH (RDD@NIH) 
On February 29, 2012, the National Institutes of Health (NIH) will celebrate
the fifth annual Rare Disease Day with a day-long celebration and recognition
of the various rare diseases research activities supported by the NIH Office of
Rare Diseases Research, the NIH Clinical Center, other NIH Institutes and
Centers; the Food and Drug Administration’s Office of Orphan Product
Development; the National Organization for Rare Disorders; and the Genetic
Alliance. Rare Disease Day at NIH (RDD@NIH) will be held in the Clinical
Center’s Masur Auditorium (Building 10) from 8:30 a.m. to 5:00 p.m. Attendance
is free and open to the public.
In addition to the various scheduled talks (see
agenda), we expect to have posters and exhibits from many groups
relevant to the rare diseases research community. In association with the
Global Genes Project, we again encourage all attendees to wear their favorite
pair of jeans.
While attendance is free, we would like to know how many people are planning to
attend to prepare accordingly. If you would like to display a poster or
exhibit, please include that information on your
registration form. You can contact Dr. David J. Eckstein at
eckstein@od.nih.gov for more information.
The NIH Office of Rare Diseases Research encourages all attendees to also plan
on attending the
Food and Drug Administration’s Rare Disease Day activities on March 1,
2012.
Visit the NIH Visitors and
Security website for the latest instructions and updates. Please allow
30 minutes to move through security.
Sign language interpreters will be provided. Individuals with disabilities who
need reasonable accommodation to participate in this event should contact
Kimberly Potter at kpotter@icfi.com or
301-251-4962.
About Rare Disease Day
Rare Disease Day was established to raise awareness with the public about rare
diseases, the challenges encountered by those affected, the importance of
research to develop diagnostics and treatments, and the impact of these
diseases on patients' lives. The focus of Rare Disease Day 2010 was 'Patients
and Researchers, Partners for Life!' and is aligned with ORDR's philosophy that
researchers need to work closely with patients and patient advocacy groups to
maximize chances for success. This philosophy has been put into practice in our
very successful
Rare Diseases Clinical Research Network.
There are about 7000 rare diseases identified in the United States. About 80
percent of rare diseases are genetic in origin and it is estimated that about
half of all rare diseases affect children. Rare diseases can be chronic,
progressive, debilitating, disabling, severe 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 support services for the patient and family. The goals
remain for rare disease patients to obtain the highest attainable standard of
health and to be provided the resources required to overcome common obstacles
in their lives.
By highlighting these issues, the NIH Office of Rare Diseases Research hopes to
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Raise awareness of rare diseases
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Strengthen the voice of patients and patient advocacy groups
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Give hope and information to patients
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Bring stakeholders closer together
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Coordinate policy actions within the United States and with other countries
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Inspire continued growth of the awareness of rare diseases
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Emphasize rare disease research and the search for new therapeutics
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Get equality in access to care and treatment
The first Rare Disease Day sponsored by EURORDIS was held in Europe on February
29, 2008. February 29th was chosen since it is a rare day and it is symbolic of
rare diseases. 2009 was the first time that Rare Disease Day was observed in
the U.S. In addition to 17 European countries participating in Rare Disease Day
2009, the United States was joined by Argentina, Australia, Canada, China,
Colombia, and Taiwan in celebrating the first global Rare Disease Day. The
National Organization for Rare Disorders serves as the coordinator of this
activity in the United States.
The Global Genes Project
A video developed by a rare disease parent advocate circulated on YouTube as
part of World Rare Disease Day 2009, making a connection between jeans and
genes. This video inspired a group of individuals and rare disease
organizations to take this connection to the next level by creating the Global
Genes Project, a grassroots effort to use jeans to raise awareness for rare
genetic disorders.
This group has grown and continues to add individuals and organizations that
want to be involved. The hope is that the rare disease community as a whole
will view this initiative as an opportunity to build unity around this
important cause. The goal is to create a platform for collaboration, while
building awareness about the prevalence of rare diseases, educating the public
about genes and the impact they play in rare diseases, and engaging support
from the general public.
There are numerous organizations that are working to help some of the
individual diseases. They are funding much needed research, helping drive
policy and develop educational programs, all in an effort to bring hope to this
underserved community. The Global Genes Project encourages those who are
concerned and compelled to join the cause to help both individual rare disease
organizations, children and their families affected, as well as the community
as a whole.