Magazine article The Exceptional Parent
National Human Genome Research Institute and the National Institutes of Health Office of Rare Diseases: Launch New Genetic and Rare Diseases Information Center. (NIH Update)
The National Human Genome Research Institute (NHGRI) and the National Institutes of Health's Office of Rare Diseases (ORD) have launched a new information center that delivers free and immediate access to information specialists who can provide accurate, reliable information about genetic and rare diseases to patients and their families, health care professionals and biomedical researchers.
There are more than 6,000 genetic and rare diseases afflicting more than 25 million Americans, but many of these illnesses affect relatively few individuals. As a result, information about these rare disorders may be limited or difficult to find. The new service, called the Genetic and Rare Diseases Information Center, will help relieve this problem by providing reliable information about individual disorders. Opened in February 2002, the center provides experienced information specialists who can personally answer questions from patients and family members via text (TTY) and traditional phone, as well as by e-mail, fax and mail.
"I am delighted we can provide a resource that should be of great benefit to individuals with genetic and rare diseases and their families," says Francis Collins, MD, PhD, director of NHGRI. "Valid and accessible information about these conditions is hard to find, and having an information center staffed by professionals will provide a critically important service. The National Human Genome Research Institute is delighted to be partnering with the Office of Rare Diseases to establish this center."
ORD Director Stephen C. Groft, PharmD, who currently is on detail as executive director of the White House Commission on Complementary and Alternative Medicine Policy, knew there was a need for a genetic and rare diseases information center when he was executive director of the Commission on Orphan Diseases. "It was a dream of his way back in the 80s," said Henrietta Hyatt-Knorr, ORD's acting director. "The commission heard over and over again from people with rare diseases: `We need information.' Now people can talk to someone--personally--and get information right away." Hyatt-Knorr continues, "There will be a quick turn around, too. If you just received a diagnosis for yourself, your spouse, or your child, now you won't have to wait to find useful information. …