People

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.

Priyanka is a postdoctoral fellow, co-mentored by Prof. James Fraser and Dr. Willow Coyote-Maestas at UCSF. She is interested in integrating deep sequencing with machine learning techniques to determine the structural basis of fusion protein-driven oncogenesis. She did her Ph.D. at Indian Institute of Science under the supervision of Prof. Raghavan Vardarajan. She developed high-throughput screens using deep mutational scanning to study the effects of mutations on protein activity, stability, and co-translational folding.

Ohanna is a CANSSI STAGE postdoctoral researcher at the University of Toronto in the Dalla Lana School of Public Health. She applies statistical methods in DNA methylation and whole genome sequencing data to understand the epidemiological, genetic, and epigenetic determinants of complex diseases. A molecular biologist by training, Ohanna received a master’s and PhD degree in Genetic Epidemiology from the Oswaldo Cruz Institution in Brazil, where she studied genetic susceptibility of infectious diseases in admixed population. For her bachelor’s degree, Ohanna received a master's and PhD degree in Cellular and Molecular Biology from the Oswaldo Cruz Foundation (FIOCRUZ/Brazil). Her dissertation focused on the Genetic Epidemiology of Infectious Diseases. Currently, she is a Postdoc of the CANSSI Ontario STAGE HostSeq Project in Dalla Lana School of Public Health at University of Toronto, studying genetics and epigenetics of complex traits.

Matteo is a Novo Nordisk Foundation Postdoctoral Fellow at the University of Oxford / University of Copenhagen, where he is supervised by Prof. Charlotte Deane and Prof. Philip Biggin. Matteo's current research interests are in immunoinformatics, computational structural biology and variant effect prediction. During his Ph.D. in Biology, supervised by Prof. Kresten Lindorff-Larsen at the University of Copenhagen, Matteo worked on understanding the mechanisms behind loss-of-function and built predictors to classify variants based on their effects on proteins.

Ziyi is a PhD student in the Department of Molecular Genetics at the University of Toronto, under the supervision of Dr. Gregory Costain. Her doctoral research focuses on leveraging large-scale genome sequencing data to investigate variant effects and their transmission within human populations. In addition to her primary research, Ziyi actively participates in workgroups dedicated to newborn sequencing and engages in scientific outreach initiatives.

Jingyou is a PhD student in the Department of Computer Science at the University of California, Los Angeles, where she conducts research under the guidance of Dr. Harold Pimentel. Her work focuses on developing rigorous statistical inference frameworks tailored to diverse types of deep mutational scanning data. Additionally, she is informally co-mentored by Dr. Willow Coyote-Maestas at the University of California, San Francisco, where she enjoys bridging computational analysis with experimental biochemistry and biophysics.

Adelaide is an NHGRI MOSAIC K99/R00 postdoctoral fellow at the University of Michigan where she works with Drs. Stephen Parker and Jacob Kitzman. She completed her PhD training in statistical genetics and genomics to study gene-environment interactions. Currently, she leads a multi-institution effort to characterize all noncoding variants associated with type 2 diabetes across cell types and stimulation states using massively parallel reporter assays. ​​With the support of her K99/R00 award, she is building a research program to study broad aspects of complex disease including network circuitry disrupted along the continuum of monogenic and polygenic human diseases.