Keynote Speakers

Prof Fowzan Alkuraya

Fowzan S Alkuraya is a Professor of Human Genetics at Alfaisal University and the Chairman of the Department of Translational Genomics at King Faisal Specialist Hospital and Research Center. He joined medical school (King Saud University) before turning 15 and graduated first in his class with first class honor. He did his pediatric residency at Georgetown University Hospital, followed by a fellowship in clinical genetics and another in molecular genetics at Harvard Medical School. He also did a postdoctoral research fellowship in the area of developmental genetics in the lab of Prof. Richard Maas at Harvard Medical School. He returned to his native Saudi Arabia to establish the Developmental Genetics Lab, which later evolved into the Center for Genomic Medicine at KFSHRC. He is an authority in the area of Mendelian genetics with more than 480 published manuscripts that describe his lab’s discovery of hundreds of novel disease genes in humans as well as many other seminal contributions to the field of human genetics as featured in profiles published by The Lancet and Science. He is a frequently invited speaker at local, regional and international conferences, on the editorial board of prominent human genetics journals, and the recipient of numerous prestigious awards including William King Bowes Award in Medical Genetics (first non-US based winner), King Salman Award for Disability Research and Curt Stern Award (first non-US based winner).

Prof Brian Bigger

co-sponsored by ASIEM
Professor Brian Bigger was educated at Campbell College, Belfast, and holds a Bachelor’s degree in Applied Biology from Bath University in 1995 and PhD from Imperial College London in 2000. After a career including Université Paris Sud, Imperial College, Oxford University and the National Blood Service, he started the Stem Cell and Neurotherapies group in 2006 in Manchester with clinical colleagues Ed Wraith and Rob Wynn as an MPS Society fellow. Brian is currently Chair of Cell and Gene Therapy in the Division of Cell Matrix Biology and Regenerative Medicine at the School of Biological Sciences at Manchester University, UK. He is also Head of Business Engagement in the School of Biological Sciences.
Brian's group works on pathology, diagnosis and clinical development of cell and gene therapies for lysosomal storage diseases. The lab has developed three stem cell gene therapies for mucopolysaccharide (MPS) diseases MPSIIIA, MPSIIIB, and a blood brain barrier targeted approach for MPSII. The lab has also developed an AAV gene therapy for MPSIIIC and continues to research new treatments and underpinning pathologies of neurological diseases including brain tumours.
Brian is Chairman elect of the European Study Group for Lysosomal Diseases and part of the UK wide Advanced Therapies Treatment Centre network through iMATCH in Manchester. He has licenced several therapies to industry and is a scientific co-founder of Orchard Therapeutics Plc. He holds over £27M in active grants, £17M of them with industry, including two clinical trials with Orchard Therapeutics and Avrobio, to determine patient outcomes of therapies developed in the lab.

Dr Yvonne Bombard

co-sponsored by ASGC
Dr. Bombard is a genomics health services researcher and Scientist at the Li Ka Shing Knowledge Institute of St. Michael’s Hospital. She is an Associate Professor at the University of Toronto in the Institute of Health Policy Management and Evaluation.Her research focuses on evaluating the clinical adoption of new genomic technologies on patients, providers and the healthcare system. She also develops digital tools for precision medicine and conducts public/patient engagement to advance health technology assessment and service delivery. Dr. Bombard is active in international policy advisory committees, where her research informs policy development. For example, she is a member of the Board of Directors of the American Society of Human Genetics.In 2014, Dr. Bombard was the inaugural recipient of the Maurice McGregor Award for Demonstrated Excellence and Leadership Potential from the Canadian Agency for Drugs and Technologies in Health (CADTH) and also received a ‘Rising Star’ award from CIHR’s Institute of Health Services and Policy Research in 2011. She has been awarded a CIHR Foundation grant as an Early Career Investigator, and a CIHR New Investigator Award. Most recently, Dr. Bombard was awarded the William E. Rawls Early Career Prize from the Canadian Cancer Society in 2021.Dr. Bombard holds Fellowships from: Yale University (Health Policy), Memorial Sloan-Kettering Cancer Center (Cancer Genomics) and the University of Toronto (Health Services Research).

Dr Felicity Boardman

ASGC Speaker
Dr. Felicity Boardman is professor in medicine ethics and society from Warwick Medical School. Her research career has focused on the social and ethical implications of genetic technologies, and in particular, their relationship to disabled people and their families. Amongst other recent grants, she is the recipient of a Wellcome Trust Investigator Award to explore attitudes towards pre-conception carrier screening in the "Imagining Futures" project.

A/Prof Jodie Ingles

SUTHERLAND LECTURE
Associate Professor Jodie Ingles leads the Cardio Genomics Program, Centenary Institute, Sydney Australia. She is an NHMRC Career Development Fellow and a cardiac genetic counsellor, Cardiology Department Royal Prince Alfred Hospital Sydney, and Associate Professor, Faculty of Medicine and Health, University of Sydney.A/Prof Ingles has 17 years' experience working with patients and families with a variety of genetic heart diseases. Her research focuses on the clinical, genetic and psychosocial aspects of care of these families, and she has more than 120 publications in these areas.She co-leads two important national initiatives, the Australian Genetic Heart Disease Registry and the Australian Cardiac Genetic Testing Network. She was awarded the Cardiovascular Research Network (CVRN) Rising Star Ministerial Award and an NHMRC Excellence Award for the top ranked career development fellowship in 2018 (clinical, level 1).

Prof Nigel Laing

HGSA ORATION
Professor Nigel Laing was born in Scotland and obtained both his BSc (Hons) in Pharmacology (1976) and PhD in Physiology (1979) from the University of Edinburgh. He spent one year as a Post-doc at the University of Oslo (1980) before coming to The University of Western Australia in January 1981.His PhD and early career research was as a developmental neurobiologist investigating how motor neurons and muscles interact and determine each other’s properties in the developing embryo. For a 12-month period, July 1987 to June 1988, Professor Laing re-trained in molecular genetics with Professor Teepu Siddique in Professor Allen Roses’ Laboratory at Duke University North Carolina.Returning to Western Australia in 1988, Professor Laing had the two tasks of developing molecular neurogenetic research and molecular neurogenetic diagnostics at The Australian Neuromuscular Research Institute and Royal Perth Hospital respectively. He successfully investigated Australian families with mostly dominantly inherited diseases, playing a role in identifying mutations in SOD1 as a cause of familial motor neuron disease, mutations in tropomyosin as the first known cause of nemaline myopathy, mutations in actin as a major cause of severe congenital myopathies of various types and mutations in myosin as the cause of “Laing” myopathy. In 2015 Professor Laing was elected a Fellow of the Australian Academy of Health and Medical Sciences and was appointed an Officer of the Order of Australia in the General Division (AO).

Dr Monkol Lek

Monkol received an undergraduate degree in Engineering (Computer Engineering) in 2000 at the University of New South Wales (UNSW) and then worked for IBM for 3.5 years. He returned to UNSW and completed undergraduate degrees in Science (Physiology) and Engineering (Bioinformatics) and received the University Medal in 2007. He completed his PhD (Medicine) at the University of Sydney in 2012 with the thesis topic: Functional differences between alpha-actinin-2 and alpha-actinin-3. Monkol did his post-doctoral training in Daniel MacArthur’s lab based at Massachusetts General Hospital, Harvard Medical School and the Broad Institute.He was the lead author/analyst for the Exome Aggregation Consortium (ExAC) project that was published in Nature 2016. He went on to lead the NIH funded Broad Center for Mendelian Genomics (CMG) analysis team. As lead analyst, he oversaw the analysis strategy for all major CMG collaborations and organized monthly meetings to foster sharing of new methods and analysis amongst the rare disease community. He also coordinated the data processing and preliminary analysis of NIH Gabriella Miller Kids First (GMKF) cohorts sequenced or reprocessed at the Broad Institute.Monkol has a strong passion for rare muscle disease research as a patient with Limb Girdle Muscular dystrophy (LGMD2G). During his time in the Broad Institute, he lead the exome/genome analysis of MYOSEQ (European cohort of >1000 LGMD patients) and SeqNMD (an international consortium of undiagnosed rare muscle diseases) which has resulted in novel disease gene discovery.

Dr Elizabeth Worthey

co-sponsored by ASDG
Dr Worthey work in the Department of Pediatrics in the Division of Pediatric Hematology / Oncology as the director for the Center for Genomic Data Sciences in the Departments of Pediatrics and Pathology in the School of Medicine. As part of her secondary appointment in the Department of Pathology, Dr. Worthey serves as the director of the Bioinformatics Section in the Division of Genomics Diagnostics and Bioinformatics. She also serves as the associate director for the Hugh Kaul Precision Medicine Institute.Dr. Worthey received her Ph.D. at the Imperial College London in London, England and completed her postdoctoral training at the Seattle Biomedical Research Institute and the University of Washington in Seattle, Washington. Her research interests include the development and application of omic, informatic, and data science-based methods and technologies in order to identify and understand causal molecular variation in rare, undiagnosed or misdiagnosed disease. Her lab also focuses on the identification and study of variation that alters an individual’s response to therapeutics or modifies clinical presentation, progression, and/or outcome.

Invited Speakers