An observational study in Genetic Conditions, sponsored by National Human Genome Research Institute (NHGRI). Recruiting at 1 site in United States. Open to participants aged 1 Day to 120 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-08-18.
Sponsored by National Human Genome Research Institute (NHGRI) · Observational
Background:
The genes a person is born with can sometimes cause serious diseases. Genetic diseases are rare, but they can have a big impact on the people they affect. Researchers have already made great strides in understanding how some genes cause disease. But they would like to have even better tools to analyze and understand genetic data. To create these new tools, they need to gather health and genetic data from a lot of people.
Objective:
This natural history study will gather medical information from people with genetic conditions.
Eligibility:
People of any age who (1) are known or suspected to have a genetic condition or (2) have a family member with a known or suspected genetic condition.
Design:
Participants will come to the clinic for up to 4 days. Tests to be performed will vary depending on the nature of each participant s health issue. The tests may include:
Blood and saliva. Blood may be drawn from a vein; cells and saliva may be collected by rubbing the inside of the cheek with a swab. These would be used for genetic testing.
Imaging scans. Participants may have X-rays or other scans of their bodies. They may lie still on a table while a machine records the images.
Heart tests. Participants may lie still while a technician places a probe on their chest. They may also have stickers attached to wires placed on their chest.
Photographs and recordings. Pictures may be taken of facial features, skin changes, or other effects of the genetic condition. Video and audio recordings may also be made.
Some people may be able to participate via telehealth.
Study Description:
We hypothesize that the use of advanced, computationally-based analytic techniques can provide insights into the causes, manifestations, and mechanisms of genetic diseases. To address this hypothesis, we will collect phenotypic and biologic data relevant to genetic conditions and will study computational tools that analyze these data.
Objectives:
Primary Objectives: To collect, collate, and analyze datasets relevant to genetic conditions using advanced computational approaches, with the objective of developing and iterating novel methods that can efficiently and accurately parse diverse, complex datasets related to genetic conditions to reveal novel clinical and biological insights, and that can be compared to current and other state-of-the-art approaches.
Endpoints:
Primary Endpoint: Not applicable
Secondary Endpoints: Not applicable
National Human Genome Research Institute (NHGRI) is the lead sponsor of 199 studies on the registry; 32 are open to participants now.
Counted across the registry records on this site, refreshed daily.
We will collect data from individuals with known or suspected genetic conditions, as well as relevant (unaffected) family members. We will also collect data from unrelated, unaffected individuals to use as control data to compare findings to those with genetic conditions. There will be multiple ways to participate and no restriction based on sex, age, demographic group, general health status, or geographic location, though individuals who participate in person through the NIH Clinical Center will primarily come from within the United States (telehealth will not take place in international locations or other circumstances where telehealth is not allowed). Due to sample size requirements needed to develop and use our planned methods, we overall anticipate collecting data from many thousands of individuals.
To be eligible to participate in the website-based data collection portion, individuals must be known or suspected to have a genetic condition, or to be the relative of a person with a known or suspected genetic condition, and be willing to consent to and share the requested information with the study team. Adults unable to provide consent must have a Legally Authorized Representative [LAR] (who can provide evidence of this status by providing guardianship paperwork, which will be verified) be able to provide consent.
To be eligible for the Clinical Center-based portion of this study, an individual must meet all of the following criteria:
Either:
To be eligible for the virtual conversation portion of this study, an individual must meet all of the following criteria:
Either:
EXCLUSION CRITERIA:
Individuals who are pregnant will be excluded from the Clinical Center-based portion of the study. There are no other exclusionary criteria except that individuals will be excluded from participation in this study if they are unable or unwilling to participate.
The PI/AI may decline to enroll a patient for reasons such as being medically unstable, residing in a hospital, or for any concerns arising after review of the laboratory and clinical data.
Individuals with known or suspect genetic conditions
Family members of individuals with known or suspected genetic conditions
Natural History
To collect, collate, and analyze datasets relevant to genetic conditions using advanced computational approaches, with the objective of developing and iterating novel methods that can efficiently and accurately parse diverse, complex datasets related to genetic conditions to reveal novel clinical and biological insights
Time frame: Ongoing
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
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National Human Genome Research Institute (NHGRI)