Background: - A number of rare inherited diseases affect only a few patients, and the genetic causes of these conditions remain unknown. Researchers are studying the use of a new technology called genome sequencing to learn which gene or genes cause these conditions. Understanding the genes that cause these diseases is important to improve diagnosis and treatment of affected patients. Objectives: * To identify the genetic cause of disorders that are difficult to identify with existing techniques. * To develop best practices for the medical and counseling challenges of genome sequencing. Eligibility: * Individuals who have one of the rare disorders under consideration in this study. These conditions are generally those in which the genetic cause of the disorder is unknown. The eligibility of most individual participants will be decided on a case-by-case basis by the researchers. * Family members of affected individuals, if that family member (often a parent) may provide genetic information. Design: * Participants in this study will have at least one and in some cases several of the following procedures: * A medical genetics evaluation. * Other tests that may include x-rays, magnetic resonance imaging (MRI) exams, and consultations with other doctors. Not all studies are necessary for each person, but the information from the tests may be required to proceed with some of our gene sequencing studies. * Clinical photographs to document certain aspects of the disorder. * Blood and skin biopsy samples, or other tissue samples, as required by the study doctors. * Genetic testing, as decided by the researchers. However, most participants in this study can expect to undergo genome sequencing, which is a technique to study all of a person s genes. * Some participants may be asked to take part in a telephone interview and/or a web-based survey. * Participants will have choices about what kinds of results from genome sequencing they wish to learn. * After the tests have been completed and the results of the genetic studies are known, participants will be offered a return visit to the National Institutes of Health to learn these results. During this visit, participants will be asked to complete surveys and participate in interviews related to their decisions to participate in the study and to learn individual genetic test results.
Background: - A number of rare inherited diseases affect only a few patients, and the genetic causes of these conditions remain unknown. Researchers are studying the use of a new technology called genome sequencing to learn which gene or genes cause these conditions. Understanding the genes that cause these diseases is important to improve diagnosis and treatment of affected patients. Objectives: * To identify the genetic cause of disorders that are difficult to identify with existing techniques. * To develop best practices for the medical and counseling challenges of genome sequencing. Eligibility: * Individuals who have one of the rare disorders under consideration in this study. These conditions are generally those in which the genetic cause of the disorder is unknown. The eligibility of most individual participants will be decided on a case-by-case basis by the researchers. * Family members of affected individuals, if that family member (often a parent) may provide genetic information. Design: * Participants in this study will have at least one and in some cases several of the following procedures: * A medical genetics evaluation. * Other tests that may include x-rays, magnetic resonance imaging (MRI) exams, and consultations with other doctors. Not all studies are necessary for each person, but the information from the tests may be required to proceed with some of our gene sequencing studies. * Clinical photographs to document certain aspects of the disorder. * Blood and skin biopsy samples, or other tissue samples, as required by the study doctors. * Genetic testing, as decided by the researchers. However, most participants in this study can expect to undergo genome sequencing, which is a technique to study all of a person s genes. * Some participants may be asked to take part in a telephone interview and/or a web-based survey. * Participants will have choices about what kinds of results from genome sequencing they wish to learn. * After the tests have been completed and the results of the genetic studies are known, participants will be offered a return visit to the National Institutes of Health to learn these results. During this visit, participants will be asked to complete surveys and participate in interviews related to their decisions to participate in the study and to learn individual genetic test results.
Genome Medical Sequencing for Genome Discovery
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National Institutes of Health Clinical Center, Bethesda, Maryland, United States, 20892
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
For general information about clinical research, read Learn About Studies.
4 Weeks to 99 Years
ALL
No
National Human Genome Research Institute (NHGRI),
Leslie G Biesecker, M.D., PRINCIPAL_INVESTIGATOR, National Human Genome Research Institute (NHGRI)
N/A