Reverse Phenotyping Core

Conditions

• Harboring of Unexpected Genetic Variant

Eligibility Criteria

Sex

ALL

Age

4 Years - 120 Years

Healthy Volunteers

Not accepted

Study Details

Background: Genes tell a person's body how to grow and work. All people have variations in their genes. Some of these cause differences that show up in a person's traits or their health, others do not. Researchers want to gather more data on people based on their genes. They want to use this data to learn more about diseases and possible treatments. Objectives: To develop a cohort of participants who can be contacted again for phenotyping and collect their genetic data. To share those data with other researchers and make them searchable. Eligibility: People already enrolled in a wide variety of protocols. They will be of varying health status, age, and sex. They will have had or plan to have exome or genome sequencing under their protocol. They can be re-contacted by the research team for possible other studies. Design: Participants will give basic details like contact and demographic information. Participants may answer questions about their personal health history, their family medical history, or their thoughts or reactions to data. Participants may have basic health tests. Their height, weight, or blood pressure may be checked. Participants may have tests of heart function. They may have an ultrasound or other non-invasive test. Participants may provide blood, urine, or other samples. Participants may have scans or other tests. Participants will get the results of all clinical tests in a letter. If any tests are abnormal, someone from the study will call the participant to explain what the results mean and what to do about them. Participants will get genetic testing results only if researchers think they could affect the health of the participant or their relatives.

Key Dates

Start date

Jan 23, 2020

Status verified

Jun 2026

Primary completion

Jun 1, 2028

Completion

Dec 29, 2028

Study Design

Enrollment

1,000 participants (estimated)

Arms

• Arm: Reverse Phenotyping Core
  Individuals undergoing phenotyping by the Reverse Phenotyping Core (RPC)

Primary Outcome Measure

Hypotheses from RPC to be tested [ Time Frame: yearly ]

Locations (1)

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