TMC-CZI Project

Discovering Genetic Mechanisms of Rare Disease in Children

Project logoDr. Hugo J. Bellen, Dr. Katherine Y. King, Dr. Richard Gibbs and their colleagues at Baylor College of Medicine and Texas Children’s Hospital have launched a new genomic sequencing initiative to help patients with an undiagnosed disease, and to identify novel genetic mutations and underlying mechanisms responsible for pediatric conditions.

This transformational project is made possible by a two-year grant from the Chan Zuckerberg Initiative and is an extension of national collaborative initiatives such as the National Institutes of Health’s Undiagnosed Diseases Network (UDN) and the Genomics Research to Elucidate the Genetic of Rare Diseases programs (GREGoR).

The study will utilize genome sequencing and functional genetic studies in animal models and human cells to elucidate the affected genes and biological pathways. Data sharing with other researchers, caregivers and families will accelerate discovery and dissemination of benefits.

Who can participate in the study?

You might be able to participate in the study if:

  • You have a rare, suspected genetic disorder AND
  • You do not have an established genetic diagnosis AND
  • Both biological parents of the patient are available AND
  • You are a patient in the care of a Texas Children’s Hospital Physician
doctor using laptop computer

For TCH clinicians:

Please use this HIPAA-compliant survey to refer your patients at no cost; the clinical team will contact you about the patient’s eligibility within 3-4 weeks from referral.


Frequently Asked Questions

The UDN is reserved for patients with an unknown syndrome (a combination of findings that have never before been described) with no diagnosis despite extensive medical evaluation.

In contrast, the TMC-CZI program aims to identify novel genetic basis for disease, even for known syndromes. For example, Tetralogy of Fallot is a known syndrome, but not all genes that may contribute to TOF are known. This program seeks to identify novel gene variants with disease causing potential, even for patients with a "diagnosis."

Patients who are already accepted for evaluation in the UDN will not be enrolled in the TMC-CZI study. If you are not sure, feel free to make the referral anyway – many of our investigators are also involved with the UDN and can help determine the right study for the patient.

There is no cost to the patient, family, or referring physician. Study subjects receive a copy of their genetic study report (if desired) and genetic counseling at no cost.

Yes, the REDCap database used for referring patients is secure, HIPAA compliant, and approved by the IRB study protocol.

Yes, the sequence results will be reported in a CLIA certified report and made available for the patient, as requested, and the medical record. The study team wishes to partner with referring physicians, patients, and families in this research to discover the physiologic consequences of novel gene variants, with the ultimate goal of improving care.

Our research may not help you or your family directly. We hope that knowledge gained from this study will help with future research to develop diagnostic tests and potential treatments for people who are similarly affected.

All participants will receive genetic counseling at no cost to explain the results of the genetic testing. If you agree to the return of genetic results and we discover a known genetic variant contributing to your condition, we will refer you to the appropriate clinical services.