Undiagnosed Diseases Network- Clinical and Genetic Evaluation of Patients with Undiagnosed Disorders
Enrolling By Invitation
18 years - 99 years
All
Phase
N/A
60 participants needed
1 Location
Brief description of study
We are doing this research study to improve diagnosis and care for people with undiagnosed diseases. We are asking you to take part in this research study because you have an undiagnosed disease. About 8000 people will take part over the entire course of this research study. The NIH is paying for parts of this research to be done. The Undiagnosed Disease Network is a group of medical and research centers across the United States.
The goals of the NIH UDN are to: (1) provide answers for patients with undiagnosed diseases; (2) generate new knowledge about disease mechanisms; (3) assess the application of new approaches to phenotyping and the use of genomic technologies; and (4) identify potential therapeutic targets, if possible. Testing performed on patients involves medically indicated studies intended to help reach a diagnosis, as well as research investigations that include a skin biopsy, blood draws, and DNA analysis.
Detailed description of study
Participants will travel to the University of Pennsylvania, one of the UDN medical centers, to be seen by doctors, nurses, and other people who work at the medical center. Your clinical consultations and research procedures will be performed at the University of Pennsylvania. This visit will last about a week and travel to the University of Pennsylvania and overnight stays will be involved.
During the visit, we will do tests and procedures that are clinically indicated to try to find a diagnosis for you. In order to do these tests, we will need to collect information from your medical records. As part of this research, we will also do research tests and procedures. Some of these research tests and procedures may be related to your condition and some may not be related to your condition.
Eligibility of study
You may be eligible for this study if you meet the following criteria:
- Conditions: genetic, genes, undiagnosed disease
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Age: 18 years - 99 years
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Gender: All
Updated on
04 Aug 2024.
Study ID: 833171
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