ASD, GENOME and RARE disorders info: Please check this out now.

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NATIONAL INSTITUTES OF HEALTH

National Human Genome Research Institute

NIH Office of Rare Diseases

NIH NEWS RELEASE

FOR IMMEDIATE RELEASE

Wednesday, February 20, 2002

5:00 p.m. EST

Media Contact:

Geoff Spencer

(301) 402-0911

NATIONAL HUMAN GENOME RESEARCH INSTITUTE

AND THE NIH OFFICE OF RARE DISEASES

LAUNCH NEW INFORMATION CENTER

Bethesda, Md. -- 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, for the first time, delivers free

and immediate access to information specialists who can

provide accurate, reliable information about genetic and

rare diseases to patients and their families.

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 to

personally answer questions from patients and family

members on the phone, as well as by e-mail, fax and regular

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, " said Francis , M.D., Ph.D.,

director of NHGRI. " Valid and accessible information about

these conditions is hard to find, and having an information

center, staffed by professionals, will fill a critically

important need. The National Human Genome Research

Institute is delighted to be partnering with the Office of

Rare Diseases to establish this center. "

ORD Director C. Groft, Pharm.D., 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 genetics 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 continued, " and there

will be a quick turn around. If you just received a

diagnosis for yourself, your spouse, or your child, now you

won't have to wait to find useful information. "

The center operates under a contract with Aspen Systems, an

information management company that creates and manages

information systems for many health and government

agencies. Aspen Systems oversees the technology supporting

the NHGRI/ORD information center. The Genetic Alliance, an

international coalition of more than 300 lay advocacy

organizations and health professionals, staffs the center

with information specialists supported by sophisticated

technology and the latest information.

" This new Genetic and Rare Disease Information Center will

be staffed by specialists sensitive to the needs of

individuals and families with genetic and rare diseases, "

said son, executive director of The Genetic

Alliance. " The experience of reaching a live,

compassionate person with accurate information can be life-

saving to many people. "

The center provides callers with authoritative information

about specific illnesses from existing public domain

sources, including reliable websites, brochures, articles,

and even chapters from books. Experts at the information

center ensure that the information sent out is current and

accurate. The center, however, does not provide genetic

counseling and does not offer diagnostic testing,

referrals, medical treatment or advice.

The information center expects most inquiries to come in by

phone or email. Calls are answered Monday through Friday,

from 12 p.m. to 6 p.m. Eastern time by both phone and TTY

(text telephone). Inquiries can also be submitted via

email, by fax, or by U.S. mail.

Contact information for the center includes:

Telephone, answered Monday through Friday, 12 p.m. to 6

p.m., Eastern time:

Voice 1-888-205-2311

TTY 1-888-205-3223

E-mail or fax, available 24-hours-a-day:

E-mail: gardinfo@...

Fax: 202-966-5689

U.S. Mail:

The Genetic and Rare Disease Information Center

P.O. Box 8126

Gaithersburg, MD 20898-8126

Depending on the type of inquiry, a written response from

an information specialist will arrive in 5 to 10 business

days. Contact information is also available on the NHGRI

and ORD Web sites>>