Speakers
ARBOUR Laura
Dr. Laura Arbour is a Professor in the Department of Medical Genetics at the University of British Columbia situated at the Island Medical Program in Victoria, BC and a Medical Geneticist at Island Health. Her clinical practice and research focuses on northern and Indigenous health issues as they pertain to genetics. Trained as both pediatrician […]
AURICCHIO Alberto
Alberto Auricchio, MD is Full Professor of Medical Genetics at the Department of Advanced Biomedicine, “Federico II” University in Naples, and Full Investigator at Telethon Institute of Genetics and Medicine (TIGEM) in Naples, Italy. His research is focused on gene therapy of retinal and metabolic diseases using adeno-associated viral vectors. Prof. Auricchio is co-author of more than 130 peer-reviewed publications on […]
BAYNAM Gareth
Gareth focuses on equitable and community engaged health innovation and implementation through public-private-philanthropic partnerships and under a precision public health paradigm. He is Head of the Western Australian Register of Developmental Anomalies (combined birth defects and cerebral palsy registers); a Clinical Geneticist at Genetic Services of Western Australia; an Adjunct Policy Advisor on Clinical Genomics […]
CARPENTER E. Anne
Dr. Carpenter is an Institute Scientist directing the Imaging Platform at the Broad Institute of Harvard and MIT. Her research group develops algorithms and data analysis methods for large-scale experiments involving images. The team’s open-source CellProfiler software is used by thousands of biologists worldwide. Carpenter is a pioneer in image-based profiling, the extraction of rich, […]
CAVAZZANA Marina
Marina Cavazzana is a paediatrician, Professor of Haematology since 2000, Director of the Department of Biotherapy at Hospital Necker, University Paris Descartes. She is the Director of the Inserm / Assistance Publique – Hôpitaux de Paris GHU Ouest Biotherapy Clinical Investigation Center and leads a research Laboratory at Imagine Institute. She studied medicine in Padua, […]
CHERQUI Stephanie
The main focus of her lab is to develop stem cell and gene therapy strategies for degenerative multi-systemic disorders, and to understand the mechanisms by which hematopoietic stem and progenitor cells (HSPC) can lead to tissue repair. Her work is leading to the first-in-human clinical trial for autologous hematopoietic stem cell gene therapy for cystinosis, […]
DOWLING James
Dr. James DOWLING is a clinician-scientist focused on gene discovery and therapy development for childhood muscle diseases. He is a staff clinician and senior scientist at the Hospital for Sick Children as well as the Mogford Campbell family chair in paediatric neurosciences, and an Associate Professor of Paediatrics and Molecular Genetics at the University of Toronto. […]
EDWARDS Aled
Aled Edwards is the founding and current CEO of the Structural Genomics Consortium (SGC),a public-private charitable partnership that generates research tools and knowledge to support basic science and drug discovery. Edwards is also the founder of M4K Pharma, a drug discovery company whose mission is to invent new medicines for rare and common diseases of […]
HAFFNER Marlene E.
MARLENE E. HAFFNER, MD, MPH is the CEO of Haffner Associates, LLC a firm dedicated to the strategy, development and policy of drug development with a special emphasis on rare diseases and the products that treatment them.For 20 years, Dr. Haffner served as Director of the Office of Orphan Products Development (OOPD) of the Food […]
HICKMAN James J.
James J. Hickman is the founder and current Chief Scientist of a biotechnology company, Hesperos, Inc., that is focusing on cell-based systems for drug discovery and toxicity. He is also the Founding Director of the NanoScience Technology Center and a Professor of Nanoscience Technology, Chemistry, Biomolecular Science, Material Science and Electrical Engineering at the University […]
HO Calvin N.
Calvin N. Ho, PhD, is a Patient Reported Outcomes Scientist at AstraZeneca, where he ensures that patients’ experiences are captured and analyzed in clinical trials. Previously, as Science Project Coordinator at the Tuberous Sclerosis Alliance, Dr. Ho organized an Externally-Led Patient-Focused Drug Development (ELPFDD) meeting with the US Food and Drug Administration (FDA). He also […]
HUDSON Maui
Associate Professor Maui Hudson is based in the Faculty of Māori and Indigenous Studies at the University of Waikato. He is an interdisciplinary researcher who explores the interface between Indigenous Knowledge, Science and Technology. He co-authored the Te Mata Ira Guidelines for Genomic Research with Māori, and the He Tangata Kei Tua Guidelines for Biobanking […]
JUSTICE Monica
Dr Justice’s research aims to improve human health through genetics. Genetics and genomics strategies are employed to identify the genetic basis for rare diseases and find rational pathways for therapies. Her current work focuses on a genetic suppressor screen in a mouse model for Rett syndrome, which has identified missing pathway components, new genetic interactions, […]
KEMALADEWI Dwi U.
Dr. Kemaladewi has a strong interest in understanding the molecular mechanism underlying different pathophysiology associated with neuromuscular disorders (NMD), and translating these mechanisms into a variety of therapeutic strategies. She received her PhD in October 2012 from Leiden University, the Netherlands under the mentorship of Prof. Gert-Jan van Ommen and Prof. Peter ‘t Hoen. Subsequently, […]
KLÄGER Sabine
Sabine Kläger is the Clinical Operations Manager of the European Clinical Research Network (ECRIN), one of the European Research Infrastructure Consortia (ERIC). Based at the head office in Paris, she is responsible for a portfolio of 40+ multi-national, investigator initiated clinical trials, working with Sponsors and investigators by providing coordinated operational services to their multinational […]
LAPTEVA Larissa
Dr. Larissa Lapteva is the Associate Director in the Division of Clinical Evaluation, Pharmacology, and Toxicology in the Office of Tissues and Advanced Therapies in the Center for Biologics Evaluation and Research at FDA. Dr. Lapteva is a physician with long-standing experience in clinical research with novel drugs and biological products. Prior to her work […]
LEE Brendan
Dr. Lee is the Robert and Janice McNair Endowed Chair, Professor, and Chairman of the Department of Molecular and Human Genetics, Director of the Center for Skeletal Medicine and Biology at Baylor College of Medicine, and co-Director of the Texas Medical Center Bone Disease Program of Texas. As a pediatrician and geneticist, Dr. Lee studies […]
LEE Soo-Kyung
Soo-Kyung “Soo” Lee completed her B.S. degree in Pharmacy at Chonnam National University in Gwangju, Korea, and remained at Chonnam National University to earn her M.S. and Ph.D. degrees. In 2001, she moved to the Salk Institute in San Diego for postdoctoral studies. She was appointed assistant professor at Baylor College of Medicine in 2004. […]
LOCHMÜLLER Hanns
Hanns is a neurologist and clinical academic specializing in genetic neuromuscular disorders and rare disease. He was recently appointed as Senior Scientist at the Children’s Hospital of Eastern Ontario (CHEO) Research Institute. He also holds appointments as Professor of Neurology in the University of Ottawa Faculty of Medicine and the Department of Medicine, Division of […]
MACDONALD Ian
Ian M. MacDonald MSc, MD CMtrained first as a clinical geneticist. Having been introduced to patients with genetic eye diseases, he then qualified as an ophthalmologist to better understand the complexities of inherited disorders of vision. After beginning his professional career in Ottawa as clinician scientist, he moved to Alberta in Western Canada where he […]
MASSEY Keith
Science Director and member of the The Cure RTD Foundation’s Board. A graduate of Carleton University and University of Manitoba, Keith received his BEng in Aerospace Engineering, MSc in Biomechanical Engineering and did his Ph.D. studies in Neurology with specialization in neuromuscular control. After his daughter Julia was diagnosed in 2013 with RTD Type 2 he […]
NUTTER Lauryl M. J.
Lauryl Nutter trained as a geneticist at the University of Calgary working with Drosophila. After obtaining her doctorate in 1997, she moved to Toronto, first as a post-doctoral fellow and then a research associate at The Hospital for Sick Children. At SickKids, her research used mouse models of pre-B cell leukemia to look at leukemogenesis […]
POTTER Beth
Beth Potter has a PhD in Epidemiology from the University of Western Ontario. She is currently an Associate Professor of Epidemiology and Public Health and the University Research Chair in Health Services for Children with Rare Diseases at the University of Ottawa. She is also an Affiliate Investigator at the Children’s Hospital of Eastern Ontario […]
PUROHIT-SHETH Tejashri
Dr. Tejashri Purohit-Sheth is currently the Director of the Division of Clinical Evaluation and Pharmacology/Toxicology (DCEPT) in the Office of Tissues and Advanced Therapies (OTAT) in the Center for Biologics Evaluation and Research at the Food and Drug Administration. She provides supervisory oversight for the clinical and pharmacology/toxicology review of submissions to OTAT. She previously […]
ROCKMAN-GREENBERG Cheryl
Dr. Cheryl ROCKMAN-GREENBERG obtained her MD degree from McGill University in 1974. She became a Fellow of the Royal College of Physicians and Surgeons of Canada (Pediatrics) in 1979 and in Medical Genetics in 1996. She has been a Fellow of the Canadian College of Medical Geneticists since 1982. Dr. Greenberg served as Medical Director […]
RUPAR Tony
Dr. Rupar, PhD, is a Fellow of the Canadian College of Medical Geneticists and Professor in the Depts. of Pathology & Laboratory Medicine, Pediatrics and Biochemistry at Western University and the London Health Sciences Centre in London Ontario, Canada. He directs the Biochemical Genetics Laboratory and is the current chairman of the advisory committee for […]
SIREAU Nick
Dr Nicolas Sireau is the CEO and Chair of Trustees at the AKU Society, a patient group that helps people with AKU (short for alkaptonuria), a rare genetic disease affecting both his children. He is also co-founder and Chair of Findacure, an organisation that helps rare disease patient groups. Previously, Nick was the CEO of […]
SIU Victoria
Dr. Siu completed her medical degree at the University of Toronto in 1982, then received her FRCPC in pediatrics and FCCMG in medical genetics. She is currently the medical director of the Medical Genetics Program of Southwestern Ontario in London, Ontario. Since 1989, she has been involved in cataloguing the natural history and identifying several […]
STANFORD William (Bill) L.
Dr. William (Bill) L. STANFORD, PhD, is trained as a chemist (Duke) and as an Immunologist (UNC at Chapel Hill). Currently, Dr. Stanford is a Senior Scientist at the Ottawa Hospital, a Full Professor at the University of Ottawa, Investigator in the Ottawa Institute of Systems Biology, Scientific Director of the Ottawa Human Pluripotent Stem […]
