Developments in Genome Analysis

Tehmina Masud is the Senior Director and Head of Target Identification at Deep Genomics, a Toronto-based biotech company specializing in genetic target discovery and RNA therapeutics development, using a cutting-edge AI platform. She holds a Ph.D. in Human Genetics from the University of Michigan and an MBBS from Rawalpindi Medical College in Pakistan.

Dr Lerner-Ellis is a molecular geneticist who serves as Head and Director of the Advanced Molecular Diagnostics Laboratory at Mount Sinai Hospital and an Associate at the Ontario Institute for Cancer Research.  

In addition to his core interests in molecular diagnostics, as applied to breast and colon cancer, a major aim of his research is to integrate genome sequencing into the general practice of medicine.  

Dr. Ashish Deshwar is a Staff Physician in the Division of Clinical and Metabolic Genetics and a Scientist-track investigator in Developmental and Stem Cell Biology program at The Hospital for Sick Children. Dr. Deshwar completed the MD/PhD combined program at the University of Toronto, graduating with a PhD degree in Molecular Genetics in 2016 and an MD degree in 2018. He then went on to pursue residency training in Medical Genetics and Genomics and in parallel a post-doctoral fellowship at the University of Toronto and The Hospital for Sick Children. He also completed a visiting fellowship at Imperial College London in 2022. His research interests involve leveraging the zebrafish model organism and human induced pluripotent stem cell (iPSC) based models in the discovery and characterization of novel genetic disorders and to study genetic liver diseases. He also has an interest in RNA sequencing as a diagnostic tool in mendelian disease.

Roth trained in physics and biology at UC Berkeley, in biophysics at Harvard, and worked with two biotech companies. He has led research teams at Harvard Medical School, the University of Toronto and Sinai Health, and now Chairs the Department of Computational and Systems Biology at the University of Pittsburgh. His team developed now-common computational methods to identify functional enrichment and transcription factor binding sites from transcriptome data, and carried out many analyses of protein and genetic networks. His group is now focused on large-scale mapping of dynamic protein interactions and the context-dependent impacts of human sequence variation.

Dr. Pastinen has been the Director of the Genomic Medicine Center (GMC) at Children’s Mercy Kansas City (CMKC) since 2017. He completed his MD PhD in human genetics under supervision of Dr. Leena Peltonen (U of Helsinki, Finland) and post-doctoral training with Dr. Tom Hudson (McGill University). He held the Canada Research Chair from 2007 to 2017 and was tenured professor in the Department of Human Genetics at McGill prior to accepting the current role at CMKC.  His scholarly record spans over 200 peer-reviewed publications, including papers in top-tier journals Cell and Nature Genetics. Prior to joining Children’s Mercy, he also led the epigenome mapping center at McGill as part of the International Human Epigenome Consortium. Since 2019 Dr. Pastinen is leading Genomic Answers for Kids, a foundational initiative for future genomic research at Children’s Mercy Research Institute that aims to develop better tools to learn from 30,000 children with rare genetic conditions and disseminate this data resource to accelerate rare disease research globally.

Jessica Gu is the Clinical Director of Genetics at Medcan and a board-certified genetic counsellor. Jessica completed her Master’s degree in Genetic Counselling at Chicago’s Northwestern University in 2013 and held past positions in pediatric, adult, and laboratory genetics before joining Medcan in 2015. She has a keen interest in personalized and preventative medicine, and now plays a key role in the development and adaptation of Medcan’s innovative genetic programs. Jessica is an active member of the Canadian Association of Genetic Counsellors.

Dr. Adam Shlien is a Director in Genome Diagnostics and Senior Scientist in the Genetics & Genome Biology program at the Hospital for Sick Children. He received his PhD from the University of Toronto for the study of copy number variation and cancer susceptibility. He continued his training as a Postdoctoral Fellow at the Wellcome Trust Sanger Institute, with Sir Mike Stratton and Dr. Peter Campbell, where he developed methods to understand the transcriptional consequences of point mutation in cancer.

Dr. Shlien’s research at SickKids has an emphasis on the analysis of paediatric cancer genomes using cutting-edge sequencing tools, with the aim of disclosing genomic mutations that drive the cancer development and understand how they alter the somatic transcriptome. Dr. Shlien has a strong interest in sarcoma. His lab is introducing next-generation genomics technologies including genome sequencing into oncological practice.

Dr. Laura Arbour is a Professor in the Department of Medical Genetics at the University of British Columbia, and an Affiliate Professor in the Division of Medical Sciences at the University of Victoria situated with the Island Medical Program. Trained as both pediatrician and clinical geneticist she has been addressing the genetic determinants of health with Indigenous populations for nearly three decades. Through her UBC Community Genetics Research Program she has focused on rare, single gene disorders and complex conditions in partnership with First Nations of BC and Inuit of Nunavut.   Along with co-leads Dr. Wyeth Wasserman and Nadine Caron, she is project lead for the Genome BC/Genome Canada/CIHR funded Large-Scale Applied Research Project, Silent Genomes, addressing inequity in genomic diagnosis for Indigenous patients of Canada.