Genome Medical Sequencing for Gene Discovery in Rare Disorders

This study is looking for the genetic causes of rare inherited diseases, intellectual disabilities, and congenital anomalies (birth defects) where the cause is currently unknown. Researchers are using a technology called genome sequencing to find which genes are responsible. The goal is to better understand these conditions, which can help improve diagnosis and treatment. You may be eligible if you have one of these rare disorders, are older than 4 weeks, and the genetic cause of your condition is unknown. The study aims to identify the specific genetic changes that cause these disorders and to develop better ways to use and counsel about genome sequencing.

Study design: This is an observational study with a planned enrollment of 2000 participants. It is not a treatment study, but rather aims to understand the genetic basis of rare diseases.
What's involved: You and both of your parents would visit the NIH Clinical Center for brief clinical and molecular evaluations. You would have the option to learn about clinically relevant genetic results found during the study.
Compensation: Not stated in the trial record.
Follow-up: The primary goals of the study, analyzing genome sequencing results and identifying the molecular cause of rare diseases, are measured on an ongoing basis.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

Genome Medical Sequencing for Gene Discovery

Recruiting

Not specifiedAges 4–99Observational

National Human Genome Research Institute (NHGRI)

~2,000 participants

Updated 2026-08-27 on ClinicalTrials.gov

At a glance

Recruiting sites

1 of 1 listed site is recruiting right now

RecruitingSuspended, closed, or not yet open

What they're measuring

Analyze GSMS results for rare disorders for which genetic causes are known but not fully described

Measured over Ongoing

+1 more outcome measured

Conditions

Intellectual Disabilities

Congenital Anomaly

Rare Disorders

Where it's being run

1 sites across 1 states

Maryland1

Study leadership

Leslie G Biesecker, M.D. · PRINCIPAL_INVESTIGATOR · National Human Genome Research Institute (NHGRI)

Who to contact

Julie C Sapp

[email protected]

(301) 435-2832

Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Vital functions of the neonate will not be artificially maintained;

The research will not terminate the heartbeat or respiration of the neonate;

There will be no added risk to the neonate resulting from the research;

The purpose of the research is the development of important biomedical knowledge that cannot be obtained by any other means; and

The legally effective informed consent is obtained in accord with applicable regulations.

What this trial measures

Analyze GSMS results for rare disorders for which genetic causes are known but not fully describedOngoing
We aim to sequence penetrant cases to study the molecular variations of rare genetic disorders, to better predict pathogenicity and identify new causative variants.
Molecular etiology of rare diseasesOngoing
Identify the genetic cause of disorders that are intractable or difficult to identify with existing techniques, for example, disorders due to new mutations with poor reproductive fitness, through exome or genome sequencing.

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