Genes Involved in Lipid Disorders

Study Overview
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Brief Summary
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Background: - Genes are the instructions our body uses to function. Researchers can look for changes, or variants, in the genes. The goal of this study is to find new gene changes that lead to lipid disorders. Older research methods looked at one or a few genes at a time. Genomic sequencing looks at most of the genes at once. Genomic sequencing may find the cause researchers haven t been able to find from past methods. Objectives: - To better understand genetic causes of lipid disorders through genomic sequencing. Eligibility: - People age 2 and older with unusual lipid disorders, and their relatives. Design: Participants will be screened with a physical exam and medical history. They will have blood taken. They may give a saliva sample. Based on the screening test, researchers will chose 3-5 family members to perform the genomic sequencing. The sequencing will be done on a sample of DNA collected during the blood draw and saliva sample. Participants may be invited to take part in other protocols that may involve imaging of their heart or blood vessels. They do not have to participate. If they do, they will sign a separate consent for those tests. If a participant s family member cannot travel to the NIH, the NIH documents and consent will be reviewed during a teleconference. A blood or sputum kit will be mailed to them.

Detailed Description
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The primary purpose of this discovery protocol is to identify new lipid genes from subjects with rare genetic lipids disorders. We will take advantage of the new technology of whole exome sequencing to find the cause of dyslipidemia that we haven t been able to find using past methods. We will work with geneticists to review the sequence data for unexpected gene changes (incidental findings) that do not explain the lipid disorder but gene changes that can cause medical disorders such as rare forms of cancer or heart disease. The opportunity to participate in the Clinical Center Genomics Opportunity (CCGO) program will enable us to take advantage of our expertise in other rare lipid disorders and translate this knowledge into new diagnostics and therapies, which is a key mission of the NIH.

Official Title
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Genes Involved in Lipid Disorders

Conditions
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Lipid Disorders

Participation Criteria
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Eligibility Criteria
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INCLUSION CRITERIA: Index cases to be included are those with unusual dyslipidemia. Relatives of affected individuals may also be included as appropriate. Child Index: greater than or equal to 2 years older Adult Index: greater than or equal to18 years older Child relatives (siblings, cousins): greater than or equal to 2 years older Adult Relative: greater than or equal to18 years older (Biological parent, aunt, uncle or grandparent) EXCLUSION CRITERIA: Inability or unwillingness to provide informed consent or assent Prisoners or other institutionalized persons will not be allowed to participate. Children <2 years of age.

Ages Eligible for Study
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Minimum Age: 2 Years
Maximum Age: 99 Years

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 |
| --- | --- |
| 1<br>Dyslipidemia patients | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Identify the gene(s) mutation (s) that causes rare cases of dyslipidemia | Discovery data | Ongoing | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Hypertriglyceridemia, Atherosclerosis, Genectic Variants, Hyperalphalipoproteinemia, Dyslipidemia, Natural History