Millions Around World To Observe Rare Disease Day
ATLANTA--The last day of February 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 Steve 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