5th Annual Symposium on Mutational Digitization


TORONTO (May 12, 2022) – The fifth annual Mutational Digitization Symposium, to be held in person and online June 13-14 in Toronto, now has confirmed speakers. An online-only poster session will take place on June 16and. More information, including registration details, is available here.

“The promise of personalized medicine demands that we know how to interpret the impact of billions of genetic variants that already exist in humanity,” said Dr. Frederick Roth, lead symposium organizer and professor at the University of Toronto and senior researcher at Sinai. Health. “This meeting is the key event of the year to track large-scale approaches to solving this daunting challenge.”

Dr. Doug Fowler, Associate Professor in the Department of Genome Sciences at the University of Washington, and Dr. Clare Turnbull, Professor of Translational Cancer Genetics in the Division of Genetics and Epidemiology at the Institute of Cancer Research in London , will deliver keynote speeches .

Speakers include three individuals serving on the executive committee of the Atlas of Variant Effects Alliance, an international collaboration committed to promoting systematic measurements of the impact of variants on the functional elements of human and pathogen genomes. These are Fowler and Drs. Debora Marks and Matthew Hurles. Marks is a computational biology researcher and associate professor of systems biology at Harvard Medical School; Hurles is the Head of Human Genetics at the Wellcome Sanger Institute and Honorary Professor of Human Genetics and Genomics at the University of Cambridge.

Other confirmed speakers include:

  • Dr Benedetta Bolognesi, group leader at the Institute of Bioengineering of Catalonia in Barcelona
  • Dr. Belinda Chang, professor in the Department of Ecology and Evolutionary Biology at the University of Toronto
  • Dr. Zhenya Ivakine, Genetics and Genome Biology Scientist at Sick Kids and Assistant Professor, Department of Physiology, University of Toronto
  • Dr. Jacob Kitzman, Assistant Professor of Human Genetics and Computational Medicine and Bioinformatics at the University of Michigan
  • Dr. Christian Landry, Professor in the Department of Biology, Faculty of Science and Engineering, Laval University in Quebec
  • Dr. Holly Rees, Associate Director and Head of Lead Discovery at Beam Therapeutics in Cambridge, Massachusetts

A wide range of topics will be covered in lectures and breakout sessions, including:

  • Prediction of computational variant effect
  • Target identification and resistance
  • Germline variation in common diseases, cancer risk, Mendelian disorders and pharmacogenomics
  • Sequence/structure/function relationships
  • Somatic variation in cancer

Corporate sponsors of the event include: Deep Genomics, Illumina, Invitae, CIFAR, Octant, Ambry Genetics and Medicine by Design. Academic partners include: the Brotman Baty Institute, the Center for Multiplex Phenotype Evaluation and the Atlas of Variant Effects Alliance.

From May 12, it is assumed that the event will take place in a hybrid format. If circumstances require moving to an online-only event, information will be available here.

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