AVE Workstream Chairs

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.

Dr. Vikas Pejaver is an Assistant Professor at the Institute for Genomic Health and the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai. His work focuses on rare genetic variants and diseases, using machine learning and advanced computational techniques on genetic, molecular and clinical data. He actively collaborates within the ClinGen and IGVF Consortia.

Dr. Starita is an 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.

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.

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.

Dr Alan Rubin is a Group Leader in the Collaborative Centre for Genomic Cancer Medicine, a joint venture of the University of Melbourne and Peter MacCallum Cancer Centre. He earned his PhD in Genome Sciences from the University of Washington before moving to the Walter and Eliza Hall Institute of Medical Research in Melbourne, Australia. Alan’s work focuses on developing new tools and approaches to analyse, share and interpret high-throughput functional genomics data.

Dr. Sven Diederichs is a Professor of Cancer Research at the University Medical Center Freiburg and the German Cancer Consortium DKTK. His research focuses on high throughput functional cancer genomics of the Fibroblast Growth Factor Receptors to increase the number of mutations informative for clinical decisions. Also, he studies non-canonical types of mutations like synonymous mutations or nonstop or stop-loss mutations. His previous expertise also covers long non-coding RNAs and RNA-binding proteins.

Dr. Nguyen Ba is an Assistant Professor at the University of Toronto (UofT). He earned his PhD in computational biology at UofT and did his postdoctoral training on high-throughput genetics and synthetic biology with Michael Desai at Harvard University. His lab focuses on fundamental questions on the genotype-phenotype map and on humanized yeast models for variant effect mapping.