Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols

Study Overview
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Brief Summary
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Background: - The purpose of this study is to identify changes in genes that cause human diseases. We would like to obtain some of you or your child s DNA and test for changes in genes that may contribute to a disease in you or your family. Objective: -To allow for exomic or genomic sequencing of NICHD patients or family members in order to identify changes in genes that cause or contribute to a specific disease. Eligibility: Children who are enrolled in an NICHD clinical study where the condition being studied may have a genetic cause. Family members of a child who is eligible for this study. Design: Children and family members will supply DNA samples. If the samples are already available, no further DNA will be needed. If DNA is not available, samples of either blood or skin will be taken. We will use these samples with new DNA sequencing technology that looks at all the human genes we know about. This is known as exome and genome sequencing.

Detailed Description
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Over the last few years advancements in DNA sequencing technology have progressed significantly. It now is feasible and economical to sequence the exome (known genes) or the entire genome. This technological advance can be applied to identifying genetic causes of rare diseases where traditional methods such as mapping frequently failed due to insufficient number of cases. These cases often present themselves in the context of other NICHD research protocols, such as teaching protocols, where it would not be efficient for the individual investigators to write a new protocol. It will also serve to standardize the consent document across NICHD for investigators that do not include exomic/genomic sequencing in their own protocol.

Official Title
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Next Generation Sequencing to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols

Conditions
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Genetic Predisposition

Participation Criteria
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Eligibility Criteria
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INCLUSION CRITERIA: Proband s that are enrolled in an NICHD clinical protocol for which there is a suspicion of an underlying genetic cause for a disease for which they are being evaluated. Family members of a proband who is eligible for this protocol. EXCLUSION CRITERIA: 1. Normal volunteers unrelated to a proband with the disease of interest.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Enrollees<br>Enrolled study participants in whom genetic sequencing was done | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Gene Mutations | Identify genetic causes of rare diseases | Baseline, Continuously | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Deidentified sequence data | Allow NICHD investigators to access de-identified sequence data generated by the NICHD Molecular Genomics Laboratory | Baseline, Continuously | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Whole Exome, Whole Genome, Rare Disorders, Genetic Disorders