Clinical Research Directory

Genes Involved in Lipid Disorders

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.

Lipoprotein Interactions and Platelet Function in Healthy Individuals and Those With Lipid Disorders

This study looks at how lipoproteins, which are particles in the blood that transport cholesterol, influence heart and blood vessel health. Beyond just their levels, the way these particles function plays a key role in preventing or contributing to disease. In some conditions, like high cholesterol or diabetes, lipoproteins may not work properly, increasing the risk of clogged arteries and other complications. The investigators aim to study these changes in people with lipid disorders to better understand their impact on blood health and to find new ways to prevent and treat heart disease.