Case Conference

What is the Interventional Genomics Case Conference?

The CGS Interventional Genomics Case Conference is a multi-disciplinary forum attended by clinicians, researchers, and genetic disease experts to review patients with well-defined, monogenetic disorders that may be candidates for novel precision medicine therapies. 

Case discussions begin with an overview of the clinical presentation, disease natural history, prognosis, and existing standard-of-care treatment. The Interventional Genomics Board reviews the genetic variants for therapeutic tractability using various genome surgery approaches (including CRISPR, ASOs, gene replacement, and small molecules) and identifies the steps needed to develop a therapy, the potential obstacles, and the opportunities for research.

How to refer a patient?

Clinicians may refer patients for expert review and potential inclusion in research and therapeutic development programs. We welcome referrals for patients with genetic disorders including: 

• Inborn errors of metabolism, particularly urea cycle disorders and lysosomal storage diseases
• Inborn errors of immunity
• Other monogenic conditions

For most individuals with a genetic diagnosis, there will not be a translational treatment approach at this time. However, each referral helps us identify gaps in knowledge that must be addressed to develop next-generation therapies. 

Providers or patients may submit a case for review by completing this referral form.

Research priorities arising from case conferences

The CGS Interventional Genomics Case Conference identifies knowledge gaps that provide opportunities for discovery and translational research. Many of the cases reviewed needed more research regarding target tissues, developmental window, delivery mechanism, and basic biology of the disease.

UCSF faculty interested in collaborative research on any of the genes discussed in the CGS Case Conference may email [email protected] for access to a summary of the case conference, including specific gene variants.