Philippe Campeau, MD, FCCMG
Philippe Campeau is a medical geneticist and a researcher at the CHU Sainte-Justine, and the department of pediatrics of the University of Montreal. He was trained at Laval University (MD), McGill University (FCCMG) and Baylor College of Medicine (Postdoc). His interests include inborn errors of metabolism and skeletal dysplasias. His laboratory focuses on identifying new skeletal dysplasia genes and studying DOORS syndrome genetics. His research funded by the CIHR the FRSQ, among other organizations.
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Pranesh Chakraborty, MD, FRCPC, FCCMG
Dr. Chakraborty is a physician certified by the Royal College in Medical Biochemistry and Pediatrics, with a subspecialty in Biochemical Genetics, and is the Executive Director of Newborn Screening Ontario. He joined CHEO in 2003 as a clinician seeing patients with Inborn Errors of Metabolism (IEM). In 2006 he led the transition of Ontario’s newborn screening program to Ottawa leading to the establishment of Newborn Screening Ontario (NSO) at CHEO. In 2008 he was instrumental in the founding of the Better Outcomes Registry and Network (BORN Ontario) at CHEO as a prescribed registry in Ontario. Finally, he is a Principal Investigator for the Canadian Inherited Metabolic Disease Research Network, established in 2012. Throughout his career, he has been involved in clinical and translational research related to Newborn Screening and Inborn Errors of Metabolism.
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Caitlin Chisholm, MS, CGC
Caitlin Chisholm has been a genetic counsellor with the Children’s Hospital of Eastern Ontario since 2011. She is currently working as a laboratory genetic counsellor, with both the cytogenetics and molecular genetics laboratories. Previously, she was involved in the implementation of the integrated electronic medical record at CHEO, in the laboratory and outpatient clinics. Caitlin has previously worked as a clinical genetic counsellor, at CHEO as well as at Kaiser Permanente in California. She graduated with a bachelor’s degree in biology from St. Francis Xavier University in 2006, and completed her Master’s degree in Genetic Counselling in 2009 through California State University, Northridge.
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Tillie Chiu, MSc, CCGC
After graduating as part of the first M.Sc. Genetic Counselling class at the University of Toronto, Tille began as a research assistant at CHEO in Ottawa in 2000 and eventually transitioned into a full-time position in the Genetics Clinic. During 2006-2007, Tillie was part of the inaugural team that helped to expand the Ontario Newborn Screening Program (now called NSO). Tille is a past President of the CAGC (2009) and has also been active in the organization as part of the Certification Board, as Membership Chair, and in various other roles. Her current focus in the Genetics Clinic is on seeing patients for prenatal indications and general genetic counselling and has begun to develop a specialized skill set in seeing Ocular Genetics patients. Tille participates in clinical supervision of trainees and is an Adjunct Professor of McGill University, Department of Human Genetics.
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Mireille Cloutier, MSc, CGC, CCGC
Mireille Cloutier completed a Master of Science in Genetic Counselling from the University of Toronto in 2006. She has been a genetic counsellor in the Children’s Hospital of Eastern Ontario Regional Genetics Program since 2006, providing genetic counselling in the prenatal setting with a focus on neurogenetics. She participates in teaching medical trainees and clinical supervision of graduate students. She pursues clinical research interests in the field of prenatal genetic counselling. Mireille is an Adjunct Professor of the Department of Human Genetics of McGill University.
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Iris Cohn, R.Ph.
Iris Cohn graduated from pharmacy school of the Heinrich-Heine-University in Germany in 1995 and is a registered pharmacist in Germany, USA and Canada.
Iris served as clinical pharmacist in Germany (1996- 1998) and in various hospital settings in the USA (1999-2012). She directed and supervised projects and initiatives that have not only increased patient and medication safety, but have also utilized and implemented novel technology utilized by healthcare providers that improved the daily care of patients.
Iris joined The Hospital for Sick Children in October 2013 as a Clinical Research Pharmacogenetics Advisor in the Division of Clinical Pharmacology & Toxicology.
Iris developed the clinical pharmacogenetics testing program at The Hospital for Sick Children. Her goal of her research program is to advance the knowledge of pharmacogenetics in order to optimize drug safety and efficacy and to translate pharmacogenetic knowledge into the therapeutic management of daily clinical care.
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Emilie Creede, MS, CGC
Emilie Creede has been a genetic counsellor with the Children’s Hospital of Eastern Ontario since 2011, where she currently divides her time between the Prenatal Genetics Service and the Hereditary Cancer Program. She graduated with a bachelor’s degree in biology from the University of Ottawa in 2008 and completed her Master’s degree in Human Genetics in 2011 through Sarah Lawrence College. She is the current central regional representative on the Board of Directors of the CAGC as well as the 2015 chair of the Membership Committee.
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Christine Davies, MSc, CGC
Christine is a Genetic Counsellor at Newborn Screening Ontario (NSO). She received her Master of Science in Genetic Counselling at the University of Toronto in 2004 and was certified by the American Board of Genetic Counseling in 2005. She worked in the Clinical Genetics Unit at the Alberta Children’s Hospital in Calgary from 2004-2008, focusing on pediatric, cardiac and general genetics including genetic counselling for hemoglobinopathies. She then worked in the Eastern Ontario Regional Genetics Program at the Children’s Hospital of Eastern Ontario from 2008-2010 focusing on prenatal, cancer and cardiac genetic counselling. At NSO, she is actively involved in communicating newborn screen (NBS) positive results out to NBS follow-up centres across the province, tracking follow-up of these infants, as well as a wide-variety of newborn screening educational initiatives, including the use of social media for this purpose. She played a significant role in the implementation of NSO’s Sickle Cell Disease carrier reporting process and continues to work closely on hemoglobinopathy initiatives. Professionally she was on the CAGC Scientific Planning Committee from 2007-2013, is currently co-chair of the CAGC Annual Educational Conference 2015 local planning committee and a member of the CAGC Social Media Subcommittee. Personally she volunteers as co-facilitator of the Ottawa Rare Disease Foundation (RDF) Parent 2 Parent Resource Network. She has a special interest in the use of social media in healthcare. She tweets for the NSO Twitter account (@NBS_Ontario), the CAGC account (@CAGC_ACCG) and uses her personal account (@CHDavies1) to engage in conversations about rare disease, caregiving, genetic counselling and hockey.
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David Dyment, MD, MSc, FCCMG, FRCPC
David Dyment is a clinician investigator at the Children’s Hospital of Eastern Ontario (CHEO). His medical training and residency in Medical Genetics was at the University of Calgary. He currently works in a Neurogenetics Clinic at CHEO and is actively involved in research studying monogenic forms of epilepsy. Other areas of research include the application of next-generation sequencing in the neonatal intensive care and also the identification of novel disease genes in recognizable malformation syndromes.
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Lauren Gallagher, MS, CCGC
Lauren received a Master of Science in Genetic Counselling from the University of British Columbia and was certified by the Canadian Association of Genetic Counsellors (CAGC) in 2011. She is presently a Genetic Counsellor with Newborn Screening Ontario (NSO), the provincial program that coordinates newborn screening in Ontario. At NSO, Lauren participates in clinical operations and in various communications, education and strategic initiatives of the program. Lauren has an interest in the genetics of hearing loss and one of her projects involves exploring the potential for newborn dried blood spots to be tested for genetic and environmental risk factors for hearing loss. Lauren has a personal and professional interest in healthcare communications and, as Secretary of the CAGC and Chair of its Media & Communications Committee, she is committed to increasing awareness about the genetic counselling profession in Canada. On a volunteer basis, Lauren co-facilitates the Ottawa chapter of the Rare Disease Foundation Parent 2 Parent Resource Network.
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L. Jane Gillis, MD, FRCPC, FCCMG
Medical geneticist with active Clinical and Biochemical Genetics practice. Licensed in Nova Scotia, New Brunswick and Prince Edward Island. Telemedicine Provider for Nova Scotia, New Brunswick and Prince Edward Island. Clinical and Biochemical genetics outreach clinic provider for New Brunswick (St John and Fredericton) and Prince Edward Island (Summerside). Specializing in rare genetic and metabolic disorders, hereditary cancer syndromes and newborn screening. Director PKU clinic for Nova Scotia and PEI. Maritime Newborn Screening Program Co-Chair. Assistant professor of Paediatrics and Medicine, Dalhousie University. Electives Director, Division of Medical Genetics, mentoring of Medical students (National and International), FWM, Dalhousie International LINK program, Paediatric and Dermatology Residents, Maternal Fetal Medicine and Reproductive Endocrinology RCPSC trainees. Tutorial leader; first and second year Medical school units, including Human Development. Clinical research interest in medical therapy and treatment for rare orphan diseases and medical therapy trials with specific interest in hereditary cancer syndromes and inborn errors of metabolism. Adjunct appointment University of Western Ontario, Faculty of Education. Co-supervisor Masters in Medical Education Thesis exploring patient clinical education experiences. IWK Research Ethics Board member. Member of the Dalhousie Promotions and Tenure Committee. Dalhousie Medical School Research In Medicine (RIM) mentor. Maternal Fetal Medicine Education Committee member. Active member of Canadian College of Medical Geneticists (CCMG) Credentials Committee, Garrod Society, SSIEM, Canadian Inborn Metabolic Disease Research Network (CIMDRN), IGNITE, Care4Rare and Associate member of the Beatrice Hunter Cancer Institute. Publications available on PubMed and Research Gate.
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Gail Graham, MD, FRCPC, FCCMG
Dr. Graham is an Ottawa native who completed a laboratory-based MSc, an MD at Queen’s University and a residency in Medical Genetics at McGill University. She accepted a staff position as a Clinical Geneticist with the University of Calgary and Alberta Children’s Hospital in 1997 and moved to the University of Ottawa and Children’s Hospital of Eastern Ontario (CHEO) in 2001. She has been Chief of the CHEO Department of Genetics and Eastern Ontario Regional Genetics Program since 2011. She has served in a number of leadership roles in the provincial and Canadian Medical Genetics scene, including Chair of the RCPSC Specialty Committee in Medical Genetics, in addition to Board member, Treasurer, Vice-President and President of the Canadian College of Medical Geneticists (CCMG).
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David Grynspan, MD FRCPC (Pediatric Pathology)
David Grynspan is a Pediatric Pathologist at the Children’s Hospital of Eastern Ontario. He graduated from University of Toronto Medical School in 2000 and did his residency in Anatomical Pathology at the University of British Columbia (2000-2006). He completed a one year fellowship in Pediatric Pathology at The Children’s Hospital of Michigan and Wayne State University in the United States in 2006-2007. His Major academic interests are in developmental biology and perinatal and placenta pathology and he is a member of the CHEO-TOH perinatal mortality committee. David is the Secretary- Treasurer of the Canadian Association of Pathologists, CAP-ACP) Pediatric pathology division and is on the Practice Committee on the International Society of Pediatric Pathology. David enjoys education and is on the Residency Program Committee for Anatomical Pathology and the Fellowship Education Committee for Maternal and Fetal Medicine, at the University of Ottawa. He has 19 peer reviewed publications and is on the editorial board of the journal Pediatric and Developmental Pathology.
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Taila Hartley, MSc, MSc, CGC, CCGC
Taila Hartley is a research genetic counsellor at the Children’s Hospital of Eastern Ontario (CHEO) Research Institute in Ottawa, Canada. She completed her Master’s degree in Biochemistry at the University of Toronto and her Master’s degree in Genetic Counselling at the University of British Columbia. She is the clinical coordinator of CARE for RARE, a collaborative pan-Canadian research project configured to improve the diagnosis and treatment of rare diseases. She was an active member of both CCMG working groups tasked with developing the Canadian position statement on the use of “genome-wide sequencing in clinical genetic diagnosis”.
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Christina Honeywell, MSc, CCGC
Christina Honeywell has been a Genetic Counsellor with the Children’s Hospital of Eastern Ontario (CHEO) since 2002. Ms. Honeywell received her Master of Science in Genetic Counselling from the University of Toronto and is certified by the CAGC. She is an Assistant Professor in the University of Ottawa’s Faculty of Medicine and cross appointed as an Affiliate Member in the McGill University Department of Human Genetics. In 2005, she spent a year as a Genetic Counsellor and Researcher at the University of Oxford with the Oxford Genetics Knowledge Park’s work package on sudden cardiac death. She was the President of the Canadian Association of Genetic Counsellors (CAGC) from 2007-2008 and a past member of the Board of Directors for seven years. Ms. Honeywell has an interest in developing the emerging field of cardiac genetic counselling both in Canada and abroad through research, health service development, and education.
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Olga Jainova, PhD, FCCMG
Dr. Jarinova is the Associate Head of the Regional Molecular Diagnostic Laboratory at the Children’s Hospital of Eastern Ontario (CHEO) and an Assistant Professor in the Department of Pathology and Laboratory Medicine at the University of Ottawa. After completing postdoctoral fellowships at the Ottawa Heart Institute and CHEO, she obtained board certification in Molecular Genetics from the Canadian College of Medical Geneticists in 2012.
Dr. Jarinova has been instrumental in expanding cardiovascular genetic testing services and introducing Next Generation Sequencing in the Regional Molecular Diagnostic Laboratory. She is a member of Coronary ARtery DIsease Genome-wide Consortium (CARDIoGRAM) and is involved in the CHEO’s court challenge that centers on gene patents towards the ultimate goal of breaking legal barriers to facilitate genetic testing in the best interest of Canadians.
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Elena Kolomietz, MD
Dr. Kolomietz received her medical degree from the State Medical Academy, St. Petersburg, Russia and her PhD in Genetics from the University of Toronto in 2002. She did her Canadian College of Medical Geneticists fellowship training at the University of Toronto, joined Mount Sinai Hospital/Hospital for Sick Children program. Dr Kolomietz is a Fellow of Canadian College of Medical Geneticists and American College of Medical Geneticists. Dr. Kolomietz joined the staff of the Department of Pathology and Laboratory Medicine at Mount Sinai Hospital in 2004. She is currently the Co-Head of the Division of Diagnostic Medical Genetics in the Department of Pathology and Laboratory Medicine at Mount Sinai Hospital, she is also an Associate Professor in the Department of Laboratory Medicine and Pathobiology at the University of Toronto.
The major focus of Dr. Kolomietz’s research is to determine the causes of infertility, whether manifesting in very early pregnancy losses or the inability to conceive, particularly when involving male disorders. She has introduced new tests into clinical diagnostic laboratory that have higher sensitivity and diagnostic yields, thus allowing to uncover novel, previously unidentified genetic rearrangements. Identification and characterization of chromosomal abnormalities in infertile males, preimplantation embryos (PGD), and perinatal samples (new POC algorithm) provides further insight into the mechanisms that cause male infertility, severe congenital abnormalities, and abnormal embryonic development.
Dr. Kolomietz received several awards, including Governor-General Fellowship Award, Leukemia Research Fund of Canada in 2001.
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Timothy Lau, MD, FRCPC, MSc
Dr. Lau, Associate Professor is a graduate of the University of Ottawa medical school and completed his residency in psychiatry and fellowship in Geriatric Psychiatry at the University of Ottawa. Dr. Timothy Lau is currently the Program Director for the Department of Psychiatry, Postgraduate Medical Education and was previously the Director of Undergraduate Medical Education for the Department of Psychiatry in the Faculty of Medicine. For 2015 Dr. Lau has been named the Aesculapian Society Honorary President.
Dr. Lau is a Distinguished Teacher at the Faculty of Medicine. Additionally, he is the Chair of a national group of undergraduate psychiatric educators for the 17 medical schools. He has been on the examination board for psychiatry at the Royal College of Physicians and Surgeons for the past 7 years.
He has won numerous departmental undergraduate and postgraduate awards for recognition of teaching and advocacy. He has an interest in spirituality and bioethics and is the founder and Past President of the Canadian Federation of Catholic Physicians’ Societies. He is an advocate for mental health and is sought after speaker in the area of Happiness for which he has given talks across the country. Drawing on his experience as a father of 6, he helps organize and lead parenting courses and conferences as part of the International Federation for Family Development.
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Nathaniel Lipkus, BCom, JD, MBA
Nathaniel Lipkus is a Partner at Gilbert’s LLP in Toronto. His practice focuses on intellectual property and regulatory advice and litigation, with an emphasis on life sciences matters. He is lead counsel for the Children’s Hospital of Eastern Ontario in Canada’s first patent case involving claims to human genetic material. In addition to his legal practice, Nathaniel consults for the Health Impact Fund out of Yale and is on the Advisory Board to Cyclica Inc., a biological big data company. Nathaniel sits as Chair of the IP Trade Policy Committee and is an active member of the Biotechnology Committee for the Intellectual Property Institute of Canada. He also curates “Just Biotech”, a blog devoted to breakthrough legal developments on breakthrough health technologies – www.justbiotech.ca.
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Eriskay Liston, MS, CGC
Eriskay Liston has been a genetic counsellor working in both the Division of Clinical and Metabolic Genetics and the Department of Pediatric Lab Medicine at the Hospital for Sick Children since 2011. She joined the team after working for New York Presbyterian Hospital in New York City for 7 years. She received her Masters of Science in Genetic Counselling from Sarah Lawrence College, Bronxville, NY in 2003, and was certified in genetic counselling by the American Board of Genetic Counselling in 2007. Eriskay joined SickKids initially in 2011 as the coordinator of the DNA Resource Centre (DRC), helping to organize and educate providers about genetic testing. In addition to the DRC, she works in the Genome Diagnostic Laboratory as well as in a specialty clinic seeing patients whose primary concern is hypotonia. Eriskay is also actively involved in the University of Toronto M.Sc Program in Genetic Counselling as a Lecturer and clinical supervisor. Together with her colleagues, Eriskay provides support to families who have a child/children with a rare disease by facilitating a parent support group at SickKids through the Rare Disease Foundation.
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Bryan Lo, MD, PhD, FRCPC
Dr. Bryan Lo received his MD/PhD from the University of Toronto, followed by a medical genetics residency at the Hospital for Sick Children from 1999 to 2004. He was a postdoctoral fellow in the Department of Cell Biology at Yale University from 2005 to 2007 when he became a research fellow in the Department of Research Oncology at the biotechnology firm Genentech in South San Francisco, California.
In 2014, Dr. Lo returned to Canada to become the medical director for The Ottawa Hospital’s brand new Molecular Oncology Diagnostics Laboratory. In addition, he sees patients in the Inherited Cancer Program at the Children’s Hospital of Eastern Ontario and maintains a research lab in The Ottawa Hospital Research Institute investigating the basic biology of precancerous lesions.
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Marla Lukofsky, Inspirational Keynote Speaker, Stand-Up Comedian, Writer, Voice-over actor, Speaking Coach, Cancer Survivor
The Toronto Sun called her “the reigning queen of comedy in Canada.” The Globe and Mail called her “suave and stylish”. For the last thirty years, Marla Lukofsky has performed as a stand-up comedian in every major city in Canada and the United States. As well, she represented Canada in the International Comedy Festival in Scotland and England. A veteran of television, Marla’s credits include Evening at the Improv, Seeing Things, Doc and CBC’s Midday with Valerie Pringle. As a writer and columnist, Marla worked on such shows as CBC radio’s Basic Black with Arthur Black and The Vicki Gabereau Show. Marla was also a proud member of Second City for one WHOLE month until they realized that she wasn’t Andrea Martin and asked her to leave. On Saturday mornings, if you’re up early enough, you can hear Marla’s voice on The Care Bears cartoon series as Good Luck Bear.
In July of 1998, Marla was suddenly diagnosed with breast cancer, which had spread to her lymph nodes. She had a lumpectomy and lymph node removal, followed by an aggressive course of chemotherapy and daily radiation treatments. Marla completed her treatments in January of 1999. Since then she has written a memoir and a collection of short stories and poems describing her experiences. In them she talks about her cancer in an entertaining manner with honesty, frankness and humour. Marla is currently giving inspirational speaking engagements across the country in hopes that she may help others. “If I can touch even one person, and have them feel that they are not alone, then I have succeeded.” Click here to visit Marla’s website
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Janet Marcadier, MSc, CCGC, CGC
Janet Marcadier is a genetic counsellor working for Newborn Screening Ontario (NSO). As part of the NSO team, Janet has been involved in organizing the clinical symposium, writing the annual report and helping to develop diagnostic definitions for the metabolic conditions on the newborn screen. Janet has also been part of the NSO Advisory Council. As part of her involvement with the council, she has taken part in the review of Congenital Cyanotic Heart Disease and the development of the disease review task force.
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Jean McGowan-Jordan is the Head of the Regional Cytogenetics Lab at CHEO and an Associate Professor in the Department of Pathology and Laboratory Medicine at the University of Ottawa. After completing fellowships in Molecular Genetics and Cytogenetics in Ottawa and Kingston, she was credentialed in both specialties through the CCMG in 2002. She was instrumental in the transition of prenatal diagnosis of aneuploidies in Eastern Ontario to a more efficient molecular-based approach and has been heavily involved in the expansion of SNP microarray testing in the CHEO Cytogenetics lab.
Jean is Laboratory Lead for the CHEO Genetics Labs, working in close collaboration with medical and operations leadership. She has served as Chair of the CHEO/University of Ottawa CCMG Fellowship Committee, the Genetics Scientific Committee of the Quality Management Program – Laboratory Services under the Ontario Medical Association, and the CCMG Cytogenetics Committee. Currently, Jean is Chair of the Standing Committee for the International System for Human Cytogenetic Nomenclature (ISCN) and was a co-editor of ISCN 2013.
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Roberto Mendoza-Londono, MD, MSc, FCCMG, FRCPC
Dr. Mendoza-Londono obtained his Medical and Master’s degree in Biology with emphasis in Human Genetics degree from the Pontificia Universidad Javeriana in Bogotá, Colombia. He completed a residency in paediatrics at the State University of New York in Brooklyn and a fellowship in clinical and metabolic genetics at Baylor College of Medicine in Houston Texas and joined the Genetics Division of The Hospital for Sick Children and University of Toronto in 2005. Dr. Mendoza has a long standing interest in the genetics of connective tissue disorders, skeletal dysplasias and inherited bone disorders. As a member of the clinical team at he holds weekly general genetics and Skeletal Dysplasias and Inherited bone disorders clinics. In addition he runs a monthly multidisciplinary bone health clinic with team of health professionals from endocrinology, orthopeadics and physical therapy, interested in providing the best evaluation and care to patients with connective tissue disorders. His research interests include the identification of the genetic basis and molecular pathophisiologic mechanisms underlying common and novel genetic disorders, the delineation of the natural history and best management strategies for patients with skeletal dysplasias and inherited bone disorders and the development of clinical practice guidelines for the evaluation and management of patients with connective tissue disorders and syndromes associated with hypermobility. His current projects include determining the diagnostic effectiveness of whole exome sequencing in patients with clinically and radiologicaly undiagnosed skeletal dysplasia syndromes, and comparing the diagnostic yield of clinical panel testing versus whole genome sequencing in patients with hypermobility type EDS.
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Shawna Morrison, MS, CGC
Shawna received her MS in genetic counseling at Brandeis University in Waltham, Massachusetts in 2008. An Ottawa, ON native, Shawna returned home in 2010 and is an American Board Certified Genetic Counselor at the Children’s Hospital of Eastern Ontario (CHEO) in Ottawa. Her current clinical role at CHEO involves seeing patients for prenatal genetic indications and hereditary hemochromatosis referrals. In June 2011, Shawna also accepted the position as the manager of the education program Genetics Education Canada – Knowledge Organization (GEC-KO). GEC-KO is funded by the Children’s Hospital of Eastern Ontario (CHEO) with in-kind support from Mount Sinai Hospital in Toronto. GEC-KO is dedicated to the development, collection, dissemination and evaluation of genetics educational materials for healthcare providers, particularly primary care providers. www.geneticseducation.ca
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Stuart G. Nicholls, BSc, MSc, MRes, PhD
Dr. Stuart Nicholls is a Research Associate at the School of Epidemiology, Public Health and Preventive Medicine at the University of Ottawa and a Clinical Investigator at the Children’s Hospital of Eastern Ontario (CHEO) Research Institute. and is a co-applicant on a recently funded Canadian Institutes of Health Research (CIHR) Knowledge Synthesis grant “A critical interpretive synthesis of recommendations for De-intensification and de-IMPLEmentation from population Screening (DIMPLES).” He is a former CIHR Postdoctoral Fellow, where his work focused on stakeholder attitudes toward consent for newborn screening.
Prior to this Dr. Nicholls conducted doctoral work in the UK exploring factors that affect parental decision-making for newborn screening and has published widely in both the ethics and clinical literature on the topic. He is an Associate Editor for the journals Research Ethics, and BMC Medical Ethics, and is Associate Editor of the Genethics.ca website.
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Sarah M. Nikkel, MD, FRCPC, FCCMG
Dr. Nikkel obtained her undergraduate degree at the University of British Columbia, her medical degree at the University of Alberta, and completed her residency training in Winnipeg. She has been working as a Medical Geneticist at the Children’s Hospital of Eastern Ontarion since 2001 and currently holds an appointment as an Associate Professor at the University of Ottawa. Her clinical and research interests include the diagnosis and management of individuals with skeletal dysplasias and short stature syndromes. She has been involved with Little People groups for over a decade and sits on the Medical Advisory Boards for the Little People of Ontario and Little People of America Associations.
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Charles Ofori-Attah is a 26 year old Ottawa native who has been a patient advocate and public speaker for over 10 years. Both at the Children’s Hospital of Eastern Ontario and the General Hospital in Ottawa, Charles has worked and lobbied on behalf of his fellow patients. As a teen, Charles worked with other dedicated volunteers to convince the provincial government to add Sickle Cell to the list of diseases children born in Ontario hospitals are screened for. No stranger to the world of advocacy, Charles has worked with organizations such as the Canadian Blood Services, Make-A-Wish Foundation the Ottawa-Carleton Catholic School Board to provide the much needed patient perspective.
As a recent graduate of Carleton University with an Honors degree in Public Affairs and Human Rights, Charles is growing his career as a professional writer and communications consultant. Currently working with Face Value Communications, a strategic communications firm in Ottawa, Charles is looking to make in impact. Charles has also served as the Chair of the “Big Steps” fundraising campaign, which brought in $25 million dollars for CHEO over his three years as head of that campaign. A political animal at heart, Charles has also worked at Parliament Hill for four years as a political assistant for two federal cabinet ministers.
Hélène Perras, MS, CCGC
Hélène Perras completed a Master of Science in Genetic Counselling from Sarah Lawrence College in 1993. After working as a counsellor in colon cancer genetics at the Ottawa Civic Hospital for 6 years, Hélène joined the Children’s Hospital of Eastern Ontario Regional Genetics Program in 2000. She has been working part-time as a counsellor in prenatal and general genetics for the past 15 years. Hélène contributes to teaching medical trainees and providing clinical supervision of GC graduate students. She is an Adjunct Professor of the Department of Human Genetics of McGill University.
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Laura Pollard, PhD, FACMG
Laura Pollard received a PhD in Biochemistry and Molecular Biology from the University of Oklahoma in 2007. She completed fellowships in Clinical Biochemical Genetics and Clinical Molecular Genetics at the Greenwood Genetic Center in 2009 and 2010, respectively, and is certified by the American Board of Medical Genetics in both specialties. She is currently the Associate Director of the Biochemical Genetics Diagnostic Laboratory at the Greenwood Genetic Center. While she signs out clinical reports relating to a wide variety of inborn errors of metabolism, her area of focus is the enzymatic and molecular diagnosis of lysosomal storage disorders, especially Mucopolysaccharidosis (MPS) disorders.
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Julie Richer, MD, FRCPC
Julie Richer is a clinical medical geneticist at the Children’s Hospital of Eastern Ontario and an assistant professor at the University of Ottawa. Her clinical practice primarily consists of the care of patients with underlying connective tissue disorders such as familial thoracic aneurysms. Dr Richer also maintains a general genetics practice and is involved in the care of pediatrics and adult patients. Dr Richer completed medical school at L’Université de Montreal, FRCPC in Medical Genetics at the University of Manitoba and a Fellowship in Medical Ethics at Harvard University. Dr Richer is particularly interested in ethical issues related to genetic. Her main areas of interest include perception of risk and issues related to disclosure of results derived from research using untargeted genetic testing as well as patenting of the human genome. In such regards, she is the lead author of the Canadian College of Medical Geneticist (CCMG) statement on gene patents.
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Julie Rutberg, BS, MS, CGC
Julie Rutberg is a Genetic Counsellor at the Children’s Hospital of Eastern Ontario and the University of Ottawa Heart Institute.
Julie obtained her Masters degree in Genetic Counselling at the University of Colorado Health Sciences Center in Denver in 1993. She became Genetic Counsellor for the Pediatric and Adult Genetics Clinics at Johns Hopkins Hospital in Baltimore in 1993 and later worked as a Genetic Counsellor and Coordinator for the Arrhythmogenic Right Ventricular Dysplasia Project also at Johns Hopkins.
Julie joined the Ottawa Heart Institute in 2005 and in 2015, she joined CHEO, in a re-structuring of the cardiac genetics program in Ottawa. She is a certified by the American Board of Genetic Counselors and has extensive experience in the field of Cardiac Genetic, particularly inherited arrhythmias and cardiomyopathies. She is currently the past-President II, of the Canadian Association of Genetic Counsellors.
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Sarah Sawyer, MD, PhD
Dr. Sawyer completed PhD. in Genomics at the Karolinksa Institute in Stockholm, Sweden. From there she returned to Canada for medical school at the University of Calgary where she earned her M.D. and completed her residency training in Medical Genetics. Following this she moved to Ottawa for a one year clinical and research fellowship in Neurogenetics and translational genomics with Dr. Kym Boycott. She is now working as a clinical geneticist at the Children’s Hospital of Eastern Ontario with a focus on pediatric cancer syndromes and in bringing next generation sequencing technologies into clinical practice. She has also attended and taught various workshops on effective presentations skills and slide design.
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Christine Seidman, MD
Christine Seidman, MD is the Thomas W. Smith Professor of Medicine and Genetics at Harvard Medical School and Brigham and Women’s Hospital and an Investigator of the Howard Hughes Medical Institute. She was an undergraduate at Harvard College and received a M.D. from George Washington University School of Medicine. After clinical training in Internal Medicine at John Hopkins Hospital she received subspecialty training in cardiology at the Massachusetts General Hospital. Dr. Seidman is a faculty member of Brigham and Women’s Hospital, where she serves as Director of the Brigham Research Institute. She is the founding Director of the BWH Cardiovascular Genetics Center.
Dr. Seidman’s laboratory uses genomic strategies to define causes of human cardiovascular disease, including congenital heart malformations and cardiomyopathies. By exploiting model systems to identify pathways impacted by mutations, these studies have enabled gene-based diagnostics and novel strategies to limit the deleterious consequences of human mutations. Dr. Seidman also leads multi-institution consortium that assess rare and common variants involved in cardiovascular phenotypes and that explore the clinical utility of genomic variation in early diagnosis and prevention of cardiovascular disease.
The recipient of many honors, Dr. Seidman is a Distinguished Scientist of the American Heart Association, Fellow of the American Academy of Arts and Sciences, and member of the Institutes of Medicine and the National Academy of Sciences.
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Andrea Superti-Furga, MD, Prof.
Dr. Andrea Superti-Furga has obtained his medical degrees at the Universities of Genoa (Italy) in 1984 and Zurich (Switzerland) in 1989. He trained with Professors Paolo Durand, Andrea Prader, Andreas Fanconi, Richard Gitzelmann and Beat Steinmann and obtained board certification in Pediatrics in Italy (1988) and Switzerland (1995). Through his early internship with P. Durand in Genova he developed an interest in inborn metabolic diseases, and he developed an intense laboratory research activity in Zurich and during stages at Mount Sinai Hospital in New York, his main research themes being inborn metabolic diseases, inherited diseases of connective tissue, and skeletal dysplasias and dysostoses. In 2002 he was appointed Full Professor for Molecular Pediatrics at the University of Lausanne (Switzerland). In 2004, he was appointed Chairman (C4-Professor) of the Department of Pediatrics and Director of the Children’s Hospital at the University of Freiburg, Germany. In 2010, he was again appointed Professeur Ordinaire at the University of Lausanne and Director of Research at the Department of Pediatrics in Lausanne. Parallel to his research interest in genetic diseases, he maintained strong ties to general clinical pediatrics as well as university teaching of Pediatrics, being responsible for lectures and courses in Pediatrics at both the Lausanne University (2002-2005) and the Freiburg University (2005-2010) Schools of Medicine. A representative of science- and molecular biology-based pediatrics both in research and in clinical practice, Dr. Superti-Furga is committed to a holistic approach to pediatrics with a comprehensive perspective that includes the genetic and molecular bases of development and disease, the growth and development of healthy children as well as those with chronic disease, and the social, economical and ethical issues around disabled children and their families.
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Eva Tomiak, MD, FRCPC, FCCMG
Dr. Eva Tomiak is a medical oncologist currently practicing in Clinical Genetics, and Head of the Inherited Cancer Program at the Children’s Hospital of Eastern Ontario in Ottawa. A graduate of Queen’s University, Dr. Tomiak completed her training in Medical Oncology at the Princess Margaret Hospital in Toronto, and pursued a 2 year clinical fellowship in New Drug Development and Phase I Clinical Trials at the Institut Jules Bordet, Brussels, Belgium. During an 11 year career at the Ottawa Regional Cancer Centre, her main clinical and research endeavors related to the care and optimization of treatment for individuals with breast and lung malignancies, During this period, Dr. Tomiak served as a Consultant in the High Risk Clinic of the Women’s Breast Health Centre and for 5 years she held the position of Director of Clinical Trials at the ORCC. In 2006, Dr. Tomiak completed her CCMG fellowship in Clinical Genetics at the Children’s Hospital of Eastern Ontario. Her current clinical practice is limited to Cancer Genetics. Dr. Tomiak is currently an assistant professor at the University of Ottawa. Her research interests include adaptation to chronic and genetically determined illness, and understanding the barriers to uptake of clinical genetics services by individuals suspected to have an inherited predisposition to cancer.
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Sheila Unger, MD
Dr.Sheila Unger was born in Fredericton, New Brunswick and did her medical training at Dalhousie University. She completed the 5 year medical genetics residency in 1998 at the University of Toronto. She did a research and clinical fellowship in the field of skeletal dysplasias at UCLA under the direction of David Rimoin and Dan Cohn. Upon the completion of the fellowship, she returned to Toronto and worked for four years at HSC in the Division of Clinical and Metabolic Genetics.
She currently works as a medical geneticist in Lausanne, Switzerland and is also the clinical and radiographic coordinator for the European Skeletal Dysplasia Network. She is an active member of the International Skeletal Dysplasia Society. She has published many articles and book chapters on skeletal dysplasias as well as co-editing the Spranger Bone Dysplasias book. Together with Prof.Superti-Furga, they organize an annual week long skeletal dysplasia course that will celebrate its tenth anniversary in 2016.
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Kellie K. Walden, MS, CGC
Kellie is a graduate of the University of South Carolina’s Genetic Counseling Program. She is a member of the National Society of Genetic Counselors and is certified by the American Board of Genetic Counseling. She has previous experience as a clinical prenatal counselor and is currently a laboratory counselor and representative for the Greenwood Genetic Center Diagnostic Laboratories. She works with the cytogenetic, biochemical, and molecular laboratories.
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