Any Conditions That Are Genetic or Suspected to be Genetic in Origin
Conditions
Keywords
Genetic, gene therapy
Brief 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.
Interventions
None listed
Sponsors
University of California, San Francisco
Study design
Observational model
OTHER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
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.
Design outcomes
Primary
| 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 |
Countries
United States
Contacts
CONTACTEmma Canepa
PRINCIPAL_INVESTIGATORTippi Mackenzie, MD
University of California, San Francisco
Outcome results
None listed