Research Assistant Professor, Dermatology
Investigator, Huntsman Cancer Institute
Faculty, Center for Genomic Medicine
- ENIGMA Consortium.
ENIGMA (https://enigmaconsortium.org) is an international consortium of investigators focused on determining the clinical significance of sequence variants in BRCA1, BRCA2 and other known or suspected breast cancer genes, to provide this expert opinion to global database and classification initiatives, and to explore optimal avenues of communication of such information at the provider and patient level. I am an Invited Participant & Speaker.
04/12/2019 - present
- The Global Alliance for Genomics and Health.
The Global Alliance for Genomics and Health (GA4GH, https://www.ga4gh.org/) is an international, nonprofit alliance formed in 2013 to accelerate the potential of research and medicine to advance human health. GA4GH Driver Projects are real-world genomic data initiatives that help guide our development efforts and pilot our tools. Stakeholders around the globe advocate, mandate, implement, and use our frameworks and standards in their local contexts. As one of the GA4GH Driver Projects, the BRCA Challenge aims to advance our understanding of the genetic basis of breast cancer, ovarian cancer and other diseases by pooling data on BRCA1/2 genetic variants and corresponding clinical data from around the world. The project has developed a publicly available portal, the BRCA Exchange, to make aggregate data accessible to all users and to facilitate expert variant pathogenicity classifications made by the ENIGMA Consortium. I am an Invited Participant & Speaker.
02/01/2016 - present
- BRCA Exchange.
The BRCA Exchange (https://brcaexchange.org/) supports the exchange of information about BRCA1 and BRCA2 variants. I am an Invited Participant & Speaker.
02/01/2016 - present
- ClinGen TP53 Expert Panel.
Variant Curation Expert Panels evaluate evidence to classify a genomic variant on a spectrum from pathogenic to benign with respect to a particular disease and inheritance pattern. They are officially recognized as part of the FDA Human Variant Database Program. I am an Expert Panelist of the ClinGen TP53 Expert Panel that aims to develop standard and guidelines for genetic testing for Li-Fraumeni Syndrome (https://clinicalgenome.org/affiliation/50013/).
01/07/2015 - present
- Medical Research Council, UK .
Grant reviewer .
07/01/2013 - 06/30/2014