Genome Medical Sequencing for Gene Discovery

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. * Bl…

This description comes directly from the study's public registry record.

Julie C Sapp  ·  (301) 435-2832  ·  sappj@mail.nih.gov

Leslie G Biesecker, M.D.  ·  (301) 402-2041  ·  lesb@mail.nih.gov

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