The NIH Undiagnosed Diseases Program: bonding scientists and clinicians-Reference-Cited by-同舟云学术

The NIH Undiagnosed Diseases Program: bonding scientists and clinicians

Published:2012-01-01 Issue:1 Volume:5 Page:3-5
ISSN:1754-8411
Container-title:Disease Models & Mechanisms
language:en
Short-container-title:

Author:

Gahl William A.¹²,Boerkoel Cornelius F.²,Boehm Manfred³

Affiliation:

1. Office of the Clinical Director, NHGRI, NIH, Building 10, Room 10C103, 10 Center Drive, MSC-1851, Bethesda, MD 20892-1851, USA

2. NIH Undiagnosed Diseases Program, NIH, 9 Memorial Drive, Room 1N113, Bethesda, MD 20892, USA

3. National Heart, Lung and Blood Institute, NIH, Building 31, Room 5A52, 31 Center Drive MSC 2486, Bethesda, MD 20892, USA

Abstract

Summary The majority of the biomedical research workforce and funds are focused on studying common diseases and the development of drugs to treat them. However, some of the most remarkable discoveries in physiology and medicine are uncovered by studying rare conditions, because the importance of certain molecular mechanisms is revealed only when their dysfunction results in disease. In 2008, the National Institutes of Health (NIH) launched the NIH Undiagnosed Diseases Program (UDP), which recruits and selects patients who suffer from diseases of unknown etiology, and studies their causes at the clinical, genetic and cellular levels. In this Editorial, we discuss how the UDP has enabled the discovery of several new diseases and disease mechanisms through collaborations between clinical and basic science teams, using the power of both clinical medicine and biological models. Establishing programs with similar infrastructure at other centers around the world could help to benefit patients, their families and the entire medical community, by enhancing research productivity for rare and novel diseases.

Publisher

The Company of Biologists

Subject

General Biochemistry, Genetics and Molecular Biology,Immunology and Microbiology (miscellaneous),Medicine (miscellaneous),Neuroscience (miscellaneous)

Link

http://journals.biologists.com/dmm/article-pdf/5/1/3/1580529/3.pdf

Reference8 articles.

1. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia;Atorino;J. Cell Biol.,2003

2. A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency;De Praeter;Am. J. Hum. Genet.,2000

3. The NIH Undiagnosed Diseases Program: lessons learned;Gahl;JAMA,2011

4. The NIH Undiagnosed Diseases Program: insights into rare diseases;Gahl;Genet. Medicine,2011

5. Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia;Koppen;Mol. Cell. Biol.,2007

Cited by 28 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Cross-ERN actions and collaborations by ERN eUROGEN;Rare and Complex Urology;2024

2. Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program;Molecular Genetics and Metabolism;2023-11

3. Rare Disease Research;Collaborative Bioethics;2023

4. Finding commonalities in rare diseases through the undiagnosed diseases network;Journal of the American Medical Informatics Association;2021-05-03

5. A domestic cat whole exome sequencing resource for trait discovery;Scientific Reports;2021-03-30