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Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program
Carolina Montano1, Thomas Cassini1, Shira G Ziegler2
1Medical Genetics & Genomic Medicine Training Program, National Human Genome Research Institute (NHGRI), NIH, Bethesda, Maryland, USA.
Journal of Inherited Metabolic Disease
|May 1, 2022
Summary
The National Institutes of Health Undiagnosed Diseases Program (UDP) aids patients with rare diseases by providing diagnoses and advancing research. Expanded networks like the Undiagnosed Diseases Network (UDN) improve patient evaluation and data sharing for better care.
Area of Science:
- Medical Genetics
- Rare Diseases
- Genomic Medicine
Background:
- Undiagnosed conditions impose significant burdens on patients and healthcare systems.
- The National Institutes of Health Undiagnosed Diseases Program (UDP) was established in 2008 to address diagnostic challenges.
- Advancing medical knowledge of rare and common diseases is a key objective.
Purpose of the Study:
- To provide diagnoses for patients with undiagnosed conditions.
- To advance medical knowledge regarding rare and common diseases.
- To present cases demonstrating novel disease mechanisms and the impact of genetic diagnoses.
Main Methods:
- Reviewing applications for undiagnosed cases from referring clinicians.
- Conducting deep phenotyping and genetic testing, including exome and genomic sequencing.
- Utilizing functional assays for evaluating candidate gene variants.
Main Results:
- The UDP has received over 4500 applications and evaluated nearly 1300 individuals.
- Six cases highlighted novel disease mechanisms and the importance of deep phenotyping.
- Genetic diagnoses led to the identification of appropriate treatments for patients.
Conclusions:
- The Undiagnosed Diseases Network (UDN) has increased patient evaluations and data sharing since 2014.
- The Undiagnosed Diseases Network International (UDNI) offers potential for broader reach.
- Collaborative networks are crucial for advancing pathophysiology knowledge, diagnosis, and care for rare conditions.
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