UCSF Center for Genome Surgery Biobank and Registry

Gene editing approaches (including but not limited to: CRISPR, LNP, AAV, RNAi etc.) for the medical specialty of interventional genomics require (1) determination of the clinical relevance of genomic variants and (2) systematic evaluation of the 'editability' of those variants. Here, we seek to use in silico and in vitro analyses of genomic, cellular, and clinical data/specimens to (1) identify novel pathogenic variants underlying diseases and (2) examine the specificity and efficacy of various gene editing components across the entire human genomic landscape.

Study Overview

• Status: Not yet recruiting
• Conditions: Any Conditions That Are Genetic or Suspected to be Genetic in Origin

• Study Type: Observational
• Enrollment (Estimated): 10000

Contacts and Locations

• Study Contact: Name: Emma Canepa; Phone Number: (415) 476-7255; Email: Emma.Canepa@ucsf.edu

Study Locations

• United States
  • California
    • San Francisco, California, United States, 94143
      • University of California, San Francisco

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Any individual diagnosed with a genetic disorder that may be amenable to gene therapy.

Description

Inclusion Criteria:

For initial screening and discussion at huddle call:

• Male and female individuals of any age, including pregnant women and their fetuses at any gestational age.
• Self-referred or referred through their provider to the UCSF Center for Genome surgery/Interventional Genomics Board for a condition that is genetic or suspected to be genetic in origin.
• UCSF patient OR consents to allow for their case to be presented at the IGB huddle.

For enrollment into registry or biobanking:

• Any above participant that the IGB agrees would be appropriate for enrollment in the registry and biobanking portion of this protocol OR Any male or female family member of any age of someone enrolled in the registry and biobanking portion of this protocol.
• Provides informed consent for participation in the registry and biobanking portion of the protocol.

Exclusion Criteria:

For initial screening and discussion at huddle call:

• Individuals who have previously been discussed by the IGB and determined to not be appropriate to move forward into the registry and biobanking portion of the protocol, unless new information related to their case may change the initial assessment.
• Individuals who are not impacted by a genetic or suspected genetic condition.

For enrollment into registry or biobanking:

-Any participant that the IGB agrees is inappropriate for enrollment in the registry and biobanking portion of this protocol.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Center for Genome Surgery Case Series Discussion
Enrollment in Registry and Biobank

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Improve our understanding of how specific mutations lead to dysfunction and cause disease	Up to 25 years
Empirically assess the edibility of individual participant genomic variants in silico and in patient-derived cells for the purpose of bespoke genomic therapies.	Up to 25 years

Other Outcome Measures

Outcome Measure	Time Frame
Support preclinical investigations of gene therapies specific to participants	Up to 25 years

Collaborators and Investigators

• Sponsor: University of California, San Francisco
• Investigators: Principal Investigator: Tippi MacKenzie, MD, University of California, San Francisco

Publications and helpful links

General Publications

• Tsai, S., Zheng, Z., Nguyen, N. et al. GUIDE-seq enables genome-wide profiling of off-target cleavage by CRISPR-Cas nucleases. Nat Biotechnol 33, 187-197 (2015). https://doi.org/10.1038/nbt.3117
• Lazzarotto, C.R., Malinin, N.L., Li, Y. et al. CHANGE-seq reveals genetic and epigenetic effects on CRISPR-Cas9 genome-wide activity. Nat Biotechnol 38, 1317-1327 (2020). https://doi.org/10.1038/s41587-020-0555-7
• Ioannidis, N. M., Rothstein, J. H., Pejaver, V., Middha, S., McDonnell, S. K., Baheti, S., Musolf, A., Li, Q., Holzinger, E., Karyadi, D., Cannon-Albright, L. A., Teerlink, C. C., Stanford, J. L., Isaacs, W. B., Xu, J., Cooney, K. A., Lange, E. M., Schleutker, J., Carpten, J. D., Powell, I. J., … Sieh, W. (2016). REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. American journal of human genetics, 99(4), 877-885. https://doi.org/10.1016/j.ajhg.2016.08.016

Study record dates

Study Major Dates

• Study Start (Estimated): May 1, 2026
• Primary Completion (Estimated): December 1, 2050
• Study Completion (Estimated): December 1, 2050

Study Registration Dates

• First Submitted: October 7, 2025
• First Submitted That Met QC Criteria: February 3, 2026
• First Posted (Actual): February 9, 2026

Study Record Updates

• Last Update Posted (Actual): February 9, 2026
• Last Update Submitted That Met QC Criteria: February 3, 2026
• Last Verified: February 1, 2026

More Information

Terms related to this study

• Keywords: Genetic; gene therapy
• Other Study ID Numbers: UCSF_CGS_Biobank_Registry

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: De-identified specimens and data may be shared with other researchers

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No