Genetic and Rare Diseases Information Center (GARD) – an NCATS Program | Providing information about rare or genetic diseases.

Genetic and Rare Diseases Information Center (GARD) – an NCATS Program | Providing information about rare or genetic diseases.

New Rare Disease Patient Video Series

July 18, 2016

Hear rare disease patients and their families share their stories in the new NCATS video series. The series aims to raise awareness of the importance of collaborative research. It features an interview with Dr. Petra Kaufmann, Director of the Office of Rare Diseases Research and Division of Clinical Innovation at NCATS, as well as with patients and families who know what it's like to live with the rare diseases MED23 gene defect, generalized lipodystrophy, relapsing polychondritis, Vici syndrome, hereditary hemorrhagic telangiectasia, epidermolysis bullosa, Phelan-McDermid syndrome, phenylketonuria, mitochondrial disease complex 3 with MELAS syndrome, and glutathione synthetase disorder.

See more information on this news item.

Related Diseases:

*   22q13.3 deletion syndrome

*   Congenital generalized lipodystrophy type 1

*   Congenital generalized lipodystrophy type 2

*   Congenital generalized lipodystrophy type 4

*   Epidermolysis bullosa

*   Glutathione synthetase deficiency

*   Hereditary hemorrhagic telangiectasia

*   MED23

*   Mitochondrial complex III deficiency

*   Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes

*   Phenylketonuria

*   Relapsing polychondritis

*   Vici syndrome

About GARD

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

Read more about GARD.

Your Questions Answered

Answers to recently asked questions from the public on these rare and/or genetic diseases:

• Retroperitoneal fibrosis
• Ostium secundum atrial septal defect
• Duchenne muscular dystrophy
• Craniopharyngioma
• Ehlers-Danlos syndrome

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Research

NIH Rare Disease Programs

A select list of NIH-supported research efforts.

• Rare Diseases Clinical Research Network (RDCRN)
• NIH/NCATS GRDR℠ Program (Global Rare Diseases Patient Registry Data Repository)
• Therapeutics for Rare and Neglected Diseases (TRND)
• Undiagnosed Diseases Network (UDN)
• Bench-to-Bedside Awards

Research Funding Resources

Funding opportunities from the NIH and other sources

Tools for Researchers

Resources to aid in research efforts

Get Involved in Research

Learn about research studies, clinical trials, and patient registries