AVE Workstream Chairs
Analysis, Modelling and Prediction (AMP)
Joseph Marsh
Dr. Marsh leads a group in the MRC Human Genetics Unit, University of Edinburgh. His work seeks to understand the molecular mechanisms by which mutations affect proteins and thereby cause disease, combining computational modelling and high-throughput experiments to improve the interpretation of protein-coding variants.
Clinical Variant Interpretation (CVI)
Lea Starita (she/her)
Dr. Starita is a Research Assistant Professor in the Department of Genome Sciences at the University of Washington and the Co-director of Brotman Baty Advanced Technology Lab. She earned her Ph.D. from Harvard Medical School before coming to the University of Washington to train in functional genomics with Stan Fields and Jay Shendure.
Clare Turnbull
Professor Clare Turnbull is a Professor of Translational Cancer Genetics at the Institute for Cancer Research, London, and a NHS Consultant in Clinical Cancer Genetics at The Royal Marsden NHS Foundation Trust and Consultant in Public Health Medicine for NHS Digital. Her work focuses on implementation of effective, evidenced cancer susceptibility genetic testing in the diagnostic setting, one part of which is ensuring accuracy and consistency on classification of variants.
Data Coordination and Dissemination (DCD)
Alan Rubin
Dr. Rubin is a computational biologist at the Walter and Eliza Hall Institute of Medical Research in Melbourne, Australia. Alan’s work focuses on developing new tools and approaches to analyze and interpret high-throughput genomics data.
Julia Foreman
Dr. Julia Foreman is Project Leader for DECIPHER at the European Molecular Biology Laboratory, European Bioinformatics Institute, in the UK. DECIPHER is an international web-based platform that shares rare disease phenotype-linked variant data. Julia is committed to open data, in particular sharing data to facilitate the transfer of research knowledge into the clinical arena, to facilitate discovery and enable diagnosis.
Experimental Technology and Standards (ETS)
Benedetta Bolognesi
Dr. Bolognesi is a Group Leader at the Institute for Bioengineering of Catalonia (IBEC). Her lab develops deep mutational scanning approaches to study functional and pathological protein aggregation. She earned her PhD in Chemistry from the University of Cambridge before moving to Barcelona for her postdoc at the Center for Genomic Regulation.
Andrew Glazer
Dr. Glazer is an Assistant Professor at Vanderbilt University Medical Center. He earned a PhD in genetics from the University of California-Berkeley and did postdoctoral research at Vanderbilt. Andrew's lab uses high-throughput functional assays to study variants in ion channel genes, with a focus on arrhythmia syndromes.