News Release: Research, School of Medicine

Feb. 27,  2009

Millions Around World To Observe Rare Disease Day

Emory Department of Human Genetics joins effort to increase awareness

News Article ImageRare Disease Day was created to raise awareness with policy makers and the public of rare diseases and of their impact on patients┬┐ lives.

February 28 has been designated as worldwide “Rare Disease Day” to call attention to the public health issues associated with rare diseases, which affect nearly 30 million Americans and countless others around the world.

"People with rare diseases remain a medically underserved population in every country," says Peter Saltonstall, president of the National Organization for Rare Disorders (NORD), which is sponsoring Rare Disease Day in the U.S.  “This day is intended to bring together the patients and families with rare diseases to discuss the need for greater awareness, more research and better access to diagnosis and treatment.”

The Department of Human Genetics in Emory University School of Medicine is part of the U.S. coalition supporting Rare Disease Day.  The coalition, being coordinated by NORD, includes patient organizations, professional societies, government agencies, medical researchers, and pharmaceutical and biotechnology companies.

"Research into rare disorders often offers profound insight into more common diseases. Our current understanding of cholesterol and heart disease stems from research originally carried out on rare forms of hypercholesterolemia,” says Stephen Warren, PhD, William Patterson Timmie Professor, chair of human genetics, professor of biochemistry and professor of pediatrics at Emory University School of Medicine.

Rare Disease Day activities in the U.S. will include a nationwide network of online videos, patient stories and blogs; newspaper, radio and television reports; state and municipal proclamations; a Rare Disease Hall of Fame for researchers; and other activities designed to raise awareness of what it means to have a rare disease.

A rare disease is one that affects fewer than 200,000 Americans.  According to the National Institutes of Health (NIH), there are nearly 7,000 such diseases affecting nearly 30 million Americans.

The Emory Department of Human Genetics is home to one of the largest programs nationwide for nutritional management of rare metabolic diseases. Its Lysosomal Storage Disease Program and Infusion Center are recognized as being centers of excellence in the Southeastern United States for the care of individuals and families facing this group of rare diseases. The Emory Lysosomal Storage Disease Center is devoted to remaining on the cutting edge of research and treatment and providing comprehensive and compassionate care for all of its patients affected by lysosomal storage diseases.

“It is an exciting time to work in rare diseases. Innovative scientific ideas are being translated through clinical research into effective and life changing treatments. Here in the Emory Division of Medical Genetics we are creating a comprehensive medical home that includes cutting edge research, compassionate clinical care and family involvement,” says Dawn Laney, genetic counselor and program leader of the Emory Lysosomal Storage Disease Center in the Division of Medical Genetics.

In 1983, the Orphan Drug Act was passed by Congress to create financial incentives for companies to develop treatments for rare diseases. Since then, nearly 330 “orphan” (for rare diseases) drugs and biologics have been approved by the U.S. Food and Drug Administration (FDA). FDA estimates that from 11 to 14 million Americans benefit from these products, but that still leaves more than 15 million Americans with diseases for which there is no approved treatment.

Rare Disease Day also will highlight the unique partnership that exists among the patient community, government entities such as the NIH Office of Rare Diseases and FDA Office of Orphan Products Development, medical professionals, researchers and companies developing orphan products.

“People with rare diseases often face challenges that occur less frequently with more common diseases,” Saltonstall says. “These include delay in getting an accurate diagnosis, few treatment options and difficulty finding medical experts.  Many rare diseases have no approved treatment, and insurance may not cover treatments that aren’t approved.  Medical and social services may be denied because those making the decisions are not familiar with the diseases.  Also, treatments for rare diseases tend to be more expensive than treatments for more common diseases.”

This will be the second annual Rare Disease Day.  The concept was launched in Europe last year by the European Rare Disease Organization, EURORDIS, a sister organization to NORD.  Rare Disease Day also is being observed in other parts of the world, including Canada, Australia and China this year.  The plan is to have a global Rare Disease Day on the last day of February each year.

NORD, a federation of individuals and patient organizations, was established in 1983 by the patient leaders who worked to get the Orphan Drug Act passed.  It provides advocacy in Washington, DC, on behalf of the rare disease community; research grants and fellowships; educational services for patients, the public and medical professionals; and patient assistance programs. 

Emory University is well known for outstanding teaching, state-of-the-art biomedical research, and exemplary clinical care for patients. The preliminary 2008 ranking in total NIH research funding for Emory University School of Medicine was 18th and its Department of Human Genetics preliminary ranking was 11th. With 40 full-time faculty and over 200 non-faculty personnel, the majority of the department’s research focuses directly on rare human diseases including neurogenetic disorders, metabolic diseases and translational research. The department’s clinical diagnostic lab, Emory Genetics Laboratory, is nationally recognized as a comprehensive genetic testing laboratory (biochemical, molecular and cytogenetics) with special expertise in rare disease testing, molecular genetics, cytogenetics and newborn screening follow-up.

For more information about Rare Disease Day activities in the U.S., go to NORD’s website (www.rarediseases.org).  For information about the global observance, go to www.rarediseaseday.org).

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NORD Media contact:
Mary Dunkle, NORD, mdunkle@rarediseases.org, (203) 744-0100 (office) and (203) 942-6443 (cell)

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The Robert W. Woodruff Health Sciences Center of Emory University is an academic health science and service center focused on missions of teaching, research, health care and public service. Its components include schools of medicine, nursing, and public health; Yerkes National Primate Research Center; the Emory Winship Cancer Institute; and Emory Healthcare, the largest, most comprehensive health system in Georgia. The Woodruff Health Sciences Center has a $2.3 billion budget, 17,000 employees, 2,300 full-time and 1,900 affiliated faculty, 4,300 students and trainees, and a $4.9 billion economic impact on metro Atlanta.

Learn more about Emory’s health sciences:
Blog: http://emoryhealthblog.com
Twitter: @emoryhealthsci
Web: http://emoryhealthsciences.org

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