The CGS Interventional Genomics Case Conference is a multi-disciplinary forum attended by clinicians, researchers, genetic-disease experts, and genomic engineers to review patients with well-defined, monogenetic disorders that may be candidates for novel precision medicine therapies.
In partnership with the Innovative Genomics Institute’s CRISPR Cures program and the Chan Zuckerberg Biohub, funding is available to develop personalized genome therapies for a small number of patients affected by inborn errors of metabolism or inborn errors of immunity.
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 genome editing, gene replacement, RNA therapeutics, and engineered cell therapies) and identifies the steps needed to develop a therapy, the potential obstacles, and the opportunities for research.
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
- Inborn errors of immunity
- Lysosomal storage diseases
- Other monogenic conditions
For most individuals with a genetic diagnosis, there will not be a pathway to develop a genomic therapy at this time. Still, every referral allows us to hone our processes and identify gaps in knowledge or resources that must be addressed to develop patient-specific genome 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 need more research regarding pathophysiology of the disease, the tissues affected, and the percentage of corrected cells needed to improve the disease manifestations. Every case reviewed can inform the scientific community of promising pathways for research.
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.
Genes discussed in case conference
Gene Condition
ABCA4 Stargardt disease
ACVR1 Fibrodysplasia ossificans progressiva
ADA Adenosine deaminase deficiency severe combined immunodeficiency (ADA-SCID)
ATL1 Related hereditary spastic paraplegia (SPG3A)
ASS1 Citrullinemia type 1
BTK X-linked agammaglobulinemia
CAD CAD deficiency - developmental and epileptic encephalopathy 50 (DEE-50)
CLN1 Batten's disease
COL4A1 COL4A1-related disorder (Gould syndrome)
CSF1R ALSP
CTFR Cystic fibrosis
DEAF1 DEAF1-related neurodevelopmental disorder
DGAT1 DGAT1 deficiency
ENPP1 ENPP1-related disorders (GACI)
F2 Prothrombin thrombophilia
FANCA Fanconi anemia
FLII FLII-related dilated cardiomyopathy
FOXP3 IPEX syndrome
GAA Infantile-onset Pompe disease
GLDN Lethal congenital contracture syndrome 11
GUSB MPS VII
KAT6B KAT6B-related neurodevelopmental disorder
KCND3 Spinocerebellar ataxia 19
MUSK MUSK-related disorder
PFIC2 Progressive familial intrahepatic cholestasis
PIK3CA CLOVES Syndrome
POLG POLG-related mitochondrial disorder
PTPN11 Noonan syndrome
RENU4-2 ReNU syndrome
SCN5A MEPPC
SYT1 Baker-Gordon syndrome
TCIRG1 Osteopetrosis
TECRL CPVT3
TEK Arteriovenous malformation
WAS Wiskott-Aldrich syndrome
Genes by disease
Gene Condition
COL4A1 COL4A1-related disorder / Gould syndrome
FLII FLII-related dilated cardiomyopathy
SCN5A Multifocal ectopic Purkinje-related premature contractions (MEPPC)
TECRL Catecholaminergic polymorphic VT type 3 (CPVT3)
Gene Condition
ADA Adenosine deaminase deficiency severe combined immunodeficiency (ADA-SCID)
BTK X-linked agammaglobulinemia
F2 Prothrombin thrombophilia
FANCA Fanconi anemia
FOXP3 IPEX syndrome
WAS Wiskott-Aldrich syndrome
Gene Condition
ABCB11 Progressive familial intrahepatic cholestasis type 2 (PFIC2)
Gene Condition
CLN1 Neuronal ceroid lipofuscinosis (Batten disease)
(PPT1)
GAA Infantile-onset Pompe disease
GUSB Mucopolysaccharidosis VII (Sly syndrome)
Gene Condition
ASS1 Citrullinemia type 1
DGAT1 DGAT1 deficiency (congenital diarrhea)
ENPP1 ENPP1-related disorders / GACI
POLG POLG-related mitochondrial disorder
Gene Condition
ACVR1 Fibrodysplasia ossificans progressiva
GLDN Lethal congenital contracture syndrome 11
MUSK MuSK-related congenital myasthenic syndrome
TCIRG1 Infantile malignant osteopetrosis
Gene Condition
ATL1 Related hereditary spastic paraplegia (SPG3A)
CAD CAD deficiency / DEE-50
CSF1R Adult-onset leukoencephalopathy (ALSP)
DEAF1 DEAF1-related neurodevelopmental disorder
KAT6B KAT6B-related neurodevelopmental disorder
KCND3 Spinocerebellar ataxia 19
RNU4-2 ReNU syndrome
SYT1 Baker-Gordon syndrome
Gene Condition
ABCA4 Stargardt disease
Gene Condition
PTPN11 Noonan syndrome
Gene Condition
CFTR Cystic fibrosis
Gene Condition
PIK3CA CLOVES syndrome / PIK3CA-related overgrowth spectrum
TEK Venous malformation
