GARD stands for Genetic and Rare Disease Information Center. GARD  is  a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by two parts of the National Institutes of Health (NIH): NCATS and the National Human Genome Research Institute (NHGRI). GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.

GARD Information Specialists are available by phone, email and contact form to assist families, health professionals, researchers, teachers and students in providing information about rare diseases.

For a brochure about GARD click here for English.

How do I contact GARD?
Information Specialists are available by phone Monday through Friday, 12:00 p.m. to 6:00 p.m. Eastern time (excluding federal holidays).

PO Box 8126
Gaithersburg, MD 20898-8126
Toll-free: 1-888-205-2311
International number: 301-251-4925
TTY: 1-888-205-3223
Fax: 301-251-4911
E-mail form:


Information is also available on many rare diseases on their searchable website.

For instance, we recently had a “Your Genetics Questions Answered” about the gene MTHFR.

On the GARD site these references were available to learn more about MTHFR:

Gene Variants-

Homocystenuria due to MTHFR variants-