This study is not yet accepting patients

UCSF Center for Genome Surgery Biobank and Registry

Summary

Healthy Volunteers
healthy people welcome
Location
at UCSF
Dates
study started
study ends around
Principal Investigator
by Tippi Mackenzie, MD (ucsf)
Headshot of Tippi Mackenzie
Tippi Mackenzie

Description

Summary

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.

Keywords

Any Conditions That Are Genetic or Suspected to be Genetic in Origin, Genetic, gene therapy, Enrollment in Registry and Biobank

Eligibility

You can join if…

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.

You CAN'T join if...

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.

Location

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

Lead Scientist at University of California Health

  • Tippi Mackenzie, MD (ucsf)
    Tippi MacKenzie is a pediatric and fetal surgeon who is focused on developing better ways to diagnose and treat genetic diseases before birth. She leads a translational research lab examining the unique biology between the mother and her fetus, with the idea that pregnancy complications such as preterm labor arise from a breakdown in maternal-fetal tolerance.

Details

Status
not yet accepting patients
Start Date
Completion Date
(estimated)
Sponsor
University of California, San Francisco
ID
NCT07396285
Study Type
Observational [Patient Registry]
Participants
Expecting 10000 study participants
Last Updated