Providing information and support for genetic and rare diseases.
Official title: MANAGEMENT AND RESEARCH SUPPORT FOR THE GENETIC AND RARE DISEASES (GARD) INFORMATION CENTER AND RELATED PROGRAMS
NIH-11216122 · Data updated 2026-11-12
This study is all about how the Genetic and Rare Diseases Information Center helps people with genetic and rare diseases by providing easy access to helpful information in English and Spanish, so patients, families, and healthcare professionals can get the support they need.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Project start | September 29, 2024 |
| Project end | July 28, 2025 |
| Funding year | 2024 |
| Award (this year) | $2,100,141 |
| NIH project number | 75N95024F00169-0-0-1 |
| Project ID | NIH-11216122 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals and families affected by genetic or rare diseases, as well as healthcare professionals seeking information.
✕Less likely to help
Patients who do not have a genetic or rare disease may not receive direct benefits from this research.
What this research studies
The Genetic and Rare Diseases Information Center (GARD) offers a vital resource for individuals seeking information about genetic and rare diseases. This center provides 24/7 access to knowledgeable information specialists who can assist patients, families, and healthcare professionals in finding accurate and current information in both English and Spanish. GARD has handled over 15,500 inquiries, supporting not only patients but also healthcare providers, researchers, and advocacy groups in their quest for knowledge about rare diseases. This initiative aims to enhance understanding and awareness of genetic conditions, ultimately improving patient care and support.
Why it matters
Potential benefit: If successful, this research could significantly improve access to critical information for patients and families affected by genetic and rare diseases.
How similar studies have gone: Similar initiatives have successfully provided valuable information and support to patients and families, indicating a strong precedent for the effectiveness of such programs.
Where this research is happening
Columbia, United States
Researchers
- Principal investigator: Milstead, Kerry
- Study coordinator: Milstead, Kerry
Related research
Other NIH-funded projects on the same topics.
-
Liver pathobiology from rare liver diseases
A study at UCSF looks at why rare liver conditions cause liver damage, with the aim of finding new ways to diagnose and treat chronic liver disease.
-
Data Management and Coordinating Center support for Rare Diseases Research
A national rare diseases research program is funding a center to manage data and coordinate studies to help improve diagnosis, care, and potential treatments for children with rare conditions.
-
EEG-based drug repurposing for rare CNS diseases
A new approach uses EEG brain signatures to find existing drugs that might help people with rare nervous-system disorders.
-
Ethics of Engaging Patient Groups in Drug Development for Rare Diseases
This grant asks how patient and family groups can ethically help shape rare-disease drug development from idea to market, with input from patients, families, doctors, and researchers.
-
Center for Polyamine Disorders group study of rare metabolic disorders
A research consortium is studying a group of rare metabolic disorders linked to polyamines and aims to understand symptoms, biomarkers, and disease progression to improve care.
-
Encore: speeding up finding new uses for existing drugs to help kids with rare diseases
A big NIH project will test thousands of existing medicines to see if any can help treat rare genetic diseases in children.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.