Genetic and Rare Diseases (GARD) Information Center at NIH

Genetic and Rare Diseases (GARD) Information Center at NIH


JANINE LEWIS: Hello, My name is Janine Lewis
and this is Michelle Snyder. We’d like to share with you information
about the Genetic and Rare Diseases Information Center, or GARD, and
how it can be a resource for researchers. The GARD Information Center is funded by two
parts of the National Institutes of Health (NIH): the National
Center for Advancing Translational Sciences Office of Rare
Diseases Research (NCATS-ORDR) and the National Human Genome Research
Institute (NHGRI). MICHELLE SNYDER: The GARD Information Center
is staffed by Information Specialists who have an extensive background in genetic counseling. We provide information and resources about
rare or genetic diseases in English or Spanish. Since the Information Center was established
in 2002, we have responded to more than 40,000 questions. LEWIS: We encourage you to visit the GARD
Web pages on the NCATS-ORDR website to see what we have to
offer. Here is the web address for the GARD
Information Center. You can also find the site by searching
“GARD Information Center” using an internet search engine. We have more than 6,000 diseases in our
database, and each disease has its own Web page where GARD Information
Specialists post information and resources as questions are
asked. SNYDER: Over the years, the GARD Information
Center has amassed a large number of resources, including contact
information for many disease advocacy organizations. If you’re looking for organizations that can
help recruit participants for your studies, or if you
need to refer participants to an organization that can provide support,
please check the organizations section on the disease Web
pages to see what groups are listed. If an organization isn’t listed for a
specific disease, GARD Information Specialists can conduct a search
for more organizations, some of which may be more broad-based. LEWIS: And we also recently began to add
social networking Web sites to the GARD database. And you may be surprised to learn about all
the ways you can connect with rare disease patients. These sites are particularly helpful if you
are researching a disease that doesn’t have an advocacy organization. SNYDER: The GARD Information Center’s
database also includes many other types of resources for rare or genetic
diseases that aren’t widely known. For example, Orphanet is a European
reference portal for information on rare diseases and orphan drugs that is
updated often. It’s a useful source for rare disease
statistics in the European Union (EU) and provides a number of reports
such as a listing of rare diseases by decreasing prevalence. LEWIS: The NCATS Office of Rare Diseases
Research also maintains a list of ORDR co-sponsored scientific
conferences for rare diseases. You can find information on past and
upcoming conferences, including their agendas, participant lists,
proceedings, and additional materials. SNYDER: And other information you might find
helpful includes resources for creating informed consent
forms, obtaining IRB approval, and finding funding opportunities. LEWIS: GARD Information Specialists can also
direct you to NIH programs that support rare disease research,
such as the Rare Diseases Clinical Research Network, or
RDCRN; Therapeutics for Rare and Neglected Diseases, or TRND; and also
the Bridging Interventional Development Gaps program, BrIDGs. These programs are funded by NCATS to assist
researchers with developing clinical trials or therapeutic
agents.
 Biospecimens are an essential resource for
studying the pathogenesis of diseases and for conducting other
biomedical research. However, we know it’s often difficult to
find information about available biospecimens for rare diseases. GARD Information Specialists can assist
researchers with locating resources such as the NCATS-ORDR portal
called RD-HuB. The RD-HuB Web site contains a searchable
database of biorepositories and biospecimens for rare diseases. GARD Information Specialists can also direct
researchers to the Global Rare Disease Patient Registry and
Data Repository, or GRDR, and to other available patient registries
and tissue donation resources. SNYDER: GARD Information Specialists are
frequently asked to help find researchers who’ve studied a rare or
genetic disease, and we’ve developed an extensive search process that
involves databases such as PubMed, NIH RePORTER, ClinicalTrials.gov,
and Orphanet, among others. If you’re looking for other researchers who
have studied a rare or genetic disease, we can conduct a thorough
search for you. GARD Information Specialists have extensive
experience conducting literature searches for rare disease
information that may be useful to answer your specific questions. Please contact us if you can’t find the
information you need and would like us to help you. Our staff can also provide disease
information in lay language in English or Spanish for your research
participants.

 LEWIS: So we hope this gives you an overview
of the resources for researchers that the GARD Information
Center has to offer. If you have any questions, you can contact
the GARD Information Center by phone at 888-205-2311, Monday
through Friday, from noon until 6 pm Eastern time. You can also write to us by using the
contact form on the NCATS-ORDR Web site or e-mail us at [email protected] We would also welcome your comments or
suggestions about the GARD Information Center. Thank you.

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