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Protocol Details

Observational Study of Advanced Data Analytics in Genetic Conditions

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 1 days
Max Age: 120 Years

Referral Letter Required


Population Exclusion(s)



Artificial Intelligence;
Genetic Conditions;
Deep Learning;
Advanced Analytics;
Computer Vision;
Natural History

Recruitment Keyword(s)



Genetic Conditions

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Human Genome Research Institute


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.


This natural history study will gather medical information from people with genetic conditions.


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.


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.

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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:

-Stated willingness to comply with all study procedures and availability for the duration of the study

-Male or female, from age 0 to over 100 years of age (the NIH Clinical Center s age-based eligibility criteria will be followed for any individuals who come to the Clinical Center for participation such that inpatient admissions will not include pediatric patients <3 years old or < 12 kg; outpatient visits for individuals <3 years old or <12 kg will only proceed with permission of the pediatric assessment team)


--A person who is known or suspected to have a genetic condition based on medical and/or family history

--A person who is a family member of a person known or suspected to have a genetic condition (and who is themselves not known or suspected to have a genetic condition)

--Ability of subject (or Legally Authorized Representative [LAR], who can provide evidence of this status, as described above) to understand and the willingness to sign a written informed consent document.


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.

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Not Provided

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Principal Investigator

Referral Contact

For more information:

Benjamin D. Solomon, M.D.
National Human Genome Research Institute (NHGRI)
NIHBC 10 - CRC BG RM 3-2551
(301) 402-8824

Rebekah L. Waikel
National Human Genome Research Institute (NHGRI)
(301) 435-6558

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1

Clinical Trials Number:


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