Keynote Speaker -1315 - 1400, Thursday, November 5, 2014

William Dobyns

William B. Dobyns, MD, Genetics

Research Center: Center for Integrative Brain Research (On staff since August 2010) Seattle Children's Hospital

"The driving force in my work is to find something new under the sun and figure out what it is, why the child has it and what can be done. I don’t like routine. In this work, I get to think about a different uncommon problem every day and talk about it with other experts interested in the same issues."

William B. Dobyns, MD, has made major contributions to the field of human genetics, particularly the nature and genetic causes of developmental disorders including mental retardation, autism and brain malformations. As both a medical geneticist and pediatric neurologist, Dr. Dobyns offers a rare combination of expertise. He examines patients with all types of genetic diseases, emphasizing children with complex developmental problems.

He also offers genetic counseling for families of these children. Dr. Dobyns is a recognized expert on many complex developmental disorders of the brain including mental retardation, autism, birth defects of the cerebellum such as Dandy-Walker malformation, and birth defects of the cerebral hemispheres such as microcephaly and megalencephaly (small and large brain size), lissencephaly or "smooth brain" disorder, and polymicrogyria (pebbled brain surface). He has made significant contributions to the understanding, classification and genetic cause of many different developmental disorders.

Judith Allanson
Judith Allanson is a Professor of Pediatrics at the University of Ottawa and retired Clinical Geneticist at Children's Hospital of Eastern Ontario, Canada. Her clinical and research interests have focused on evaluation of facial dysmorphisms and methods of syndrome identification, evaluation of genetic services, models of genetics service delivery; and the understanding, perception and application of genetic knowledge by primary care providers. She is co-editor of a book on management of common genetic syndromes and the co-Director of GEC-KO, Genetics Education Canada – Knowledge Organization.

Lindsay Brown
Dr Brown completed her PhD (2007) in the Department of Pathology at the University of British Columbia. She then completed a CCMG clinical cytogenetics and molecular genetics fellowship in 2010 and 2013, respectively. She has been a clinical faculty member of the UBC Department of Pathology and Laboratory Medicine since 2010. Dr Brown is currently a clinical Cytogeneticist and Molecular Geneticist at Children’s and Woman’s Health Centre of BC.

Serena Buontempo
Serena Buontempo graduated from University of Rome, School of Medicine in 2001, and in 2006 she completed at University of Rome the clinicalpathology residency training .During these years she has been following several projects concerning DNA methylation, neuronal kinases and zinc-finger proteins. From 2009 she has been working as PhD student and post-doc in the laboratory directed by Giuseppe Testa at European Institute od Oncology where she has been studying the role of Ezh2 during neuronaldifferentiation.

Sanoa Choufani
Dr. Choufani is currently a Research Associate in the Genetics and Genome Biology program at the Hospital for Sick children. She is working in the research group of Dr. Rosanna Weksberg. Dr. Choufani's research focusses on the epigenetic mechanisms leading to overgrowth disorders. She works on the identification of new molecular markers that can distinguish different overgrowth disorders.

Friedman.photoJan Friedman
Dr. Jan Friedman is a Professor of Medical Genetics at University of British Columbia. He is a clinical geneticist who holds an MD degree from Tulane University and a PhD in Genetics from the University of Washington. Dr. Friedman has been a pioneer in the development and application of cytogenetic and genomic tools to understand the genetic causes and clinical consequences, and improve diagnosis of intellectual disability syndromes. Dr. Friedman has won numerous awards for his research and teaching. He has participated in many national and international boards, committees and strategic advisory groups. Dr Friedman has published more than 240 peer-reviewed papers and has written six books and edited two others. Over the past 10 years, he has given more than 60 invited presentations.

Farrer.MProf. Matthew Farrer
Prof. Matthew Farrer currently directs the Centre for Applied Neurogenetics (CAN;, which conducts multidisciplinary research to accelerate the development of novel therapeutics for patients with neurological disease. He is a member of the Department of Medical Genetics, with adjunct positions in Neurology and Medicine.  Before accepting positions as Canada Excellence Research Chair in Neurogenetics and Translational Neuroscience at UBC, and the Don Rix BC Leadership Chair in Genetic Medicine, Farrer was a Professor of Molecular Neuroscience and Director of the Division of Neurogenetics at Mayo Clinic, Jacksonville, Florida. In 2008, he was named a Mayo Clinic Distinguished Investigator, the Clinic’s highest award for research excellence, for his outstanding contributions to neurogenetics and translational neuroscience. He is a currently a member of several prominent scientific editorial and advisory boards.

Cheryl Gregory-Evans
Dr Cheryl Gregory-Evans is a Professor of Developmental Biology in the Department of Ophthalmology at University of British Columbia. Her research focuses on understanding the molecular basis of human eye and craniofacial abnormalities, using zebrafish, mouse and lizard model systems. She has made numerous contributions to genetics including mapping, identifying disease genes, embryology and developing therapeutic strategies, including most recently START therapy for aniridia.

Spring Holter
Spring Holter graduated from the University of Michigan in 2005 with a Master of Science degree in Human Genetics/Genetic Counseling. She joined the Familial Gastrointestinal Cancer Registry (FGICR) at Mount Sinai Hospital shortly after graduating. She works both as a clinical genetic counsellor, providing care to families with hereditary GI cancers as well as the Project Manager for the Terry Fox Research Institute-funded Canadian Colorectal Cancer Consortium (C4). She has a specific interest pancreatic cancer genetics. In 2007 she was certified in Genetic Counselling by both the American Board of Genetic Counseling and the Canadian Association of Genetic Counsellors.

David G. Huntsman
David G. Huntsman, MD, FRCPC, FCCMG Dr. David Huntsman is a Professor in the Departments of Pathology and Laboratory Medicine and Obstetrics and Gynaecology at The University of British Columbia (UBC) and is the Dr. Chew Wei Memorial Professor of Gynaelcologic Oncology. He is a a Staff Pathologist at the BC Cancer Agency (BCCA), and a Consulting Pathologist at the Vancouver General Hospital (VGH).
Dr. Huntsman is currently the Director of the BC multidisciplinary ovarian cancer research team (OvCaRe), Medical Director of the Centre for Translational and Applied Genomics (CTAG) at the BCCA, and co-Director of the Genetic Pathology Evaluation Centre (GPEC) at the Jack Bell Research Centre, VGH.
Dr. Huntsman research has led to development of predictive and prognostic tissue based cancer biomarkers for ovarian cancer and a wide variety of other tumour types. His team created a blueprint for subtype specific ovarian cancer control and have been leaders in the application of novel genomics technologies to ovarian cancer. As collaboration is critical in his field, Dr. Huntsman happily leads and engages in a wide number of multidisciplinary research groups. Most recently he has been working on the creation of broad based personalized medicine initiative for British Columbia.
He is the leader of the TFRI sponsored program grant to study the genomes of rare cancers and to translate discoveries made into biomarkers and treatment opportunities. This team hopes to both improve the management of a cluster of rare cancers and develop strategies and ideas that will have broader clinical impact.

Steven Jones
Dr. Jones gained his PhD at the Sanger Institute, Cambridge, UK in 1999, where he was involved in the C. elegans genome project. Currently, he is Head of Bioinformatics and Associate Director of the Genome Sciences Centre at the BC Cancer Agency in Vancouver. Dr Jones has played a role in numerous other genome projects, including that of the human, mouse, rat, bovine, fruitfly and the SARS coronavirus. In 2011 Dr. Jones became a Fellow of the Royal Society of Canada and in September 2014 was inducted as a Fellow in the Canadian Academy of Health Sciences.

David Kimelman
Dr. Kimelman is a Professor in the Department of Biochemistry at the University of Washington. He received his B.S. in Chemistry at Stanford, his Ph.D. in Biochemistry and Molecular Biology at Harvard, and completed postdoctoral training in developmental biology with Dr. Marc Kirschner at U.C. San Francisco. Dr. Kimelman’s work explores the early formation of the vertebrate body, originally using the frog Xenopus laevis, and more recently zebrafish. He currently serves on the editorial boards of Developmental Cell, Genes & Development, and Developmental Biology, and is a past editorial board member for Cell.

Kobelka photo

Christine Kobelka
Christine Kobelka graduated from the University of British Columbia’s Genetic Counseling Program in 2007.  She went on to achieve genetic counseling certification through both the Canadian Association of Genetic Councilors and the American Board of Genetic Counseling.  Christine has been working at Kaiser Permanente, San Francisco since 2008, with a special interest and focus in cancer genetics


JanessaJanessa Laskin
Dr. Laskin is a medical oncologist at the BC Cancer Agency.  Her practice is focused on lung cancer and her research is primarily devoted to clinical trials, both with cooperative groups and investigator-initiated studies that incorporate both clinical and translational elements.  She is co-leader, with Dr. Marra, of the Personalized OncoGenomics program.

Howard Lim
Dr. Lim completed his Medical Oncology training at UBC and then pursued additional training in GI Oncology at the Oregon Health Science Centre and B.C. Cancer Agency. He is currently a Medical Oncologist at the B. C. Cancer Agency, Vancouver site. He is the Program Director of the Medical Oncology Training Program and active as a member of the Research Ethics Board, GI Outcomes Unit, and the Personalized Oncogenomics Program.

MinassianBerge Minassian
Dr. Minassian graduated from McGill medical school and obtained his training in Neurology from UCLA.  He returned to Canada and trained in paediatric epilepsy with Dr. Carter Snead, and genetics with Drs. Lap-Chee Tsui and Stephen Scherer.  During his training, he wrote a seminal paper on epilepsy surgery and time discovered the two causative genes for Lafora disease, the severest and a fatal form of adolescence-onset epilepsy.  Dr. Minassian has the rank of Professor and directs a lab with nine trainees and technicians at SickKids.  His lab has helped discover seven disease genes, including four for epilepsy.  His most active research area is the unraveling of the pathogenesis of Lafora disease.  His lab has disclosed a novel pathway of regulation of glycogen synthesis involving the Lafora disease genes.  Dr. Minassian’s group has made seminal contributions to Rett and Angelman syndromes, the most common forms of mental retardation with epilepsy.  His lab also discovered the first two canine epilepsy genes.  Dr. Minassian holds the University of Toronto Michael Bahen Chair in Epilepsy Research and co-directs a nationwide epilepsy project funded by Genome Canada involving whole genome sequencing of 2000 epileptic patients to identify the genetic bases of epilepsy and intractable epilepsy.

Rajcan-Separovic.E photoEvica Rajcan-Separovic
Dr Rajcan-Separovic is a CCMG certified clinical cytogeneticist. She has been working as a clinical cytogeneticst at Children’s and Women’s Hospital of BC from 1997 and is an Associate Professor at the University of British Columbia. Her main interest is in finding genomic causes of development disorders that are lethal prenatally or lead to delayed early childhood development. She was a CIHR Clinical Investigator from 2004-2008 and a Michael Smith Foundation for Health Research Career Scholar from 2008-2014.

SimpsonElizabeth M. Simpson
Elizabeth M. Simpson, B.Sc., M.Sc., Ph.D. is a Professor in the Department of Medical Genetics, and Associate Member in the Departments of Psychiatry and Ophthalmology & Visual Sciences at the University of British Columbia. She is a leading scientist in mammalian genetics and genomics. Dr. Simpson is author of 67 peer-reviewed publications, the most recent of which describes the development of new tools for virus-based ocular gene therapy (de Leeuw et al., 2014).

Maja Tarailo-Graovac
Tarailo-Graovac.M CCMGDr. Maja Tarailo-Graovac is a Research Associate at BC Children’s Hospital in the TIDE-BC team, leading applied genome analysis efforts which utilize next generation sequencing (NGS) advances and facilitate their translation into clinical practice. She received her B.Sc. degree in Biochemistry in 2002 and Ph.D. degree in Medical Genetics in 2007, both from the University of British Columbia. Her post-doctoral training in genomics and bioinformatics at the Simon Fraser University was supported by CIHR and Fanconi Canada Fellowship.


vanBokhoven.photoHans van Bokhoven
Hans van Bokhoven is head of the research unit Molecular Neurogenetics at the Radboud University Nijmegen Medical Centre. His research has identified a large number of genes that carry causative mutations in a variety of cognitive disorders that have an important medical and socio-economic impact to our society; in particular intellectual disability, autism and neural migration disorders. The identified "disease" genes have crucial functions in development and maintenance of the brain and in basic molecular pathways in learning and memory. Current research focuses on the genetic and epigenetic networks that are disrupted in intellectual disabilities, using a multi-level strategy that combines neurogenetics, functional genomics and molecular & cellular neurobiological approaches.

van Karnebeek.photoClara van Karnebeek
Clara van Karnebeek, MD, PhD, Certified Pediatrician and Biochemical Geneticist, BC Children’s Hospital (BCCH), serves as Assistant Professor in the Department of Pediatrics, University of British Columbia since 2011. As Scientist at the Centre for Molecular Medicine and Therapeutics, her research is focused on enhancing early diagnosis and treatment of inborn errors of metabolism in patients with intellectual developmental disabilities. She is PI of the TIDE-BC gene discovery program, which integrates whole exome sequencing and metabolomics in carefully characterized patients with unexplained biochemical phenotypes to diagnose and characterize the underlying gene defects. She collaborates closely with Drs Wasserman, Tarailo-Graovac and a team of clinicians and scientists around the world.

Dr. Wyeth Wasserman
WassermanWorking at the intersection of genetics, computer science and medicine, Dr. Wyeth Wasserman specializes in the study of the human genome (DNA). After his undergraduate studies in mathematics and cell biology at the University of Washington, Dr. Wasserman did his PhD in cancer research at the University of Wisconsin, where he studied the molecular mechanisms by which eating broccoli can reduce the risk of cancer.
Inspired by the Human Genome Project, Dr. Wasserman then pursued advanced training in the new field of bioinformatics. He developed computer software for identifying DNA on/off switches – the special pieces of DNA in chromosomes that control which genes are active.
Dr. Wasserman initially established his research group at the Karolinska Institute in Sweden. He then moved to BC Children’s Hospital and the University of British Columbia. Working at the front-lines of DNA analysis, Dr. Wasserman’s multi-disciplinary research team has become increasingly focused on finding mutations in DNA that cause childhood disorders. With DNA sequencing costs falling below $1,000 per person, extraordinary genetic discoveries are happening at a staggering pace.

David Weaver
Dr. David Weaver is a clinical geneticist who received his MS and M.D. degrees, and pediatric residency training from the Oregon Health and Science University, Portland, OR. Following his residency training, he did a human genetic fellowship at the University of Washington School of Medicine, Seattle, Washington. He then took a metabolic disease fellowship also at the Oregon Health and Science University. Since 1976 he has been on the faculty in the Department of Medical and Molecular Genetics, Indiana University School of Medicine, where he holds a rank of Professor Emeritus.

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46th Annual Scientific Meeting - June 6-9, 2022 - Presented Virtually