About the Editors


Stephen W. Scherer, PhD, DSc, FRSC
Director, The Centre for Applied Genomics
The Hospital for Sick Children and the University of Toronto McLaughlin Centre
Toronto, Canada 

Dr. Scherer holds the GlaxoSmithKline-Canadian Institutes of Health Research Endowed Chair in Genome Sciences at The Hospital for Sick Children (SickKids) and University of Toronto (UofT) and he is Director of the UofT McLaughlin Centre, as well as The Centre for Applied Genomics at SickKids. His research is documented in over 500 scholarly publications and the Database of Genomic Variants he founded facilitates hundreds of thousands of clinical diagnoses each year. He has won numerous awards and Honorary Degrees, including the Steacie Prize, a Howard Hughes Medical Institute Scholarship, and the Premier’s Summit Award for Medical Research. He is a Fellow of the Canadian Institute for Advanced Research, the American Association for the Advancement of Science, and the Royal Society of Canada. In 2014, he was selected as a Thomson Reuters Citation Laureate in the field of Physiology or Medicine for “the discovery of large-scale copy number variation and its association with specific diseases”. 

Associate Editors

Mohammed Al-Qahtani, PhD
Executive Director
Center of Excellence in Genomic Medicine Research
King Abdulaziz University
Jeddah, Saudi Arabia

Prof. Mohammed Al-Qahtani is the Founder and Executive Director of the Center of Excellence in Genomic Medicine Research (CEGMR, since 2007) at King Abdulaziz University (KAU), Jeddah, Saudi Arabia. Prof. Al-Qahtani's research interests lies within the area of the development of molecular cytogenetic based diagnostics for cancer and other diseases.  Prof. Al-Qahtani has more than 255 published manuscripts. In 2017, Prof. Al-Qahtani founded a central genetic lab (GenaTi) which offers a wide range of high-quality and cutting-edge genetic laboratory testing and internships. Prof. Al Qahtani is currently deputy vice president of King Abdulaziz University for Research Centers.

Stylianos E. Antonarakis, MD, PhD
Professor Emeritus of Genetic Medicine (active)
University of Geneva Medical School
Geneva, Switzerland


Stylianos Antonarakis has 40 years of experience in Genetic Medicine, first at The Johns Hopkins University in Baltimore and subsequently in Geneva. His long term research theme is the link between the genetic and phenotypic variability. He has contributed to the understanding of the molecular basis of Mendelian disorders, Complex phenotypes, and chromosomal syndromes such as Trisomy 21. He was the founding Chairman of the Department of Genetic Medicine, and the iGE3 Institute of Genomics and Genetics of Geneva both in the University of Geneva. He was the past President of the European Society of Human Genetics and HUGO (Human Genome Organization). He has recently created “The Genome Clinic” in Geneva that provides diagnostic services by using high throughput sequencing. He has recently co-founded and serves as the CEO of "MediGenome" (The Swiss Institute of Genomic Medicine).

Charis Eng, MD, PhD
Hardis/ACS Professor and Chairwoman
Genomic Medicine Institute

Cleveland Clinic

Dr. Eng's laboratory seeks to identify and characterize genes that, when altered, predispose to cancer, using a range of strategies including clinical genetic, integrative omic, in vitro functional interrogation and non-human models. She also seeks to understand modifiers of heritable cancer risk including genomic, epigenomic and metagenomic modifiers. At the clinical interface, she is acknowledged as one of the rare “go to” people on what is and how to implement genetic- and genomics-enabled personalized healthcare.

Charles Lee, PhD
Scientific Director and Professor
The Jackson Laboratory for Genomic Medicine


Prof Charles Lee is a world-renowned scientist best known for his discovery that copy-number variation - a state in which cells have an abnormal number of copies of DNA sections, sometimes associated with susceptibility of resistance to disease - is widespread and significant in the human genome. This discovery, and his subsequent research, has provided the tools that clinicians around the world use to help them make accurate diagnoses for genetic testing of conditions such as autism, birth defects and cancer. Dr. Lee's laboratory develops and applies state-of-the-art technologies to study structural genomic variation and its contribution to human diseases, and vertebrate genome evolution. 

Dennis Lo, MD, PhD
Director, Li Ka Shing Institute of Health Sciences
The Chinese University of Hong Kong
Hong Kong, China

Dr. Lo is a key driver in the field of noninvasive prenatal testing. He discovered the presence of cell-free fetal DNA in maternal plasma, and his group has since remained at the forefront of this field. He has also pioneered a number of diagnostic applications of plasma DNA in other fields. He has received numerous awards, including the US National Academy of Clinical Biochemistry Distinguished Scientist Award (2006), a Croucher Senior Medical Research Fellowship, Sigi Zeiring Award from the American Association of Clinical Chemistry (2007) and Fulbright Distinguished Scholar (2009), among others. 

Stephen F. Kingsmore, M.D., D.Sc
President and CEO
Rady Pediatric Genomics and Systems Medicine Institute


TIME magazine ranked Dr. Kingsmore and his team’s 2-day genome diagnosis method for NICU babies one of the top 10 medical breakthroughs of 2012. He was a MedScape Physician of the year in 2012, and received the 2013 Scripps Genomic Medicine award and 2013 ILCHUN prize of the Korean Society for Biochemistry and Molecular Biology. In 2016 and 2018, Dr. Kingsmore became the official title holder of the Guinness World Records® designation for fastest genetic diagnosis, which he accomplished by successfully diagnosing critically ill newborns in 26 and then 19 hours.

Lisa Strug, PhD
Associate Director, The Centre for Applied Genomics 
Senior Scientist, The Hospital for Sick ChildrenAssociate Professor of Biostatistics and Statistical Sciences,  University of Toronto
Toronto, Canada

Prof. Strug’s research interests lie in the fields of statistical genetics and genetic epidemiology.  Her statistical work focuses on the development of pure likelihood methods for genetic analysis,  methods for the analysis of next generation sequencing data and on methodology tailored to the identification of modifier genes for mendelian disorders.   Her research investigates the genetic epidemiology of cystic fibrosis and the neurodevelopmental phenotype of common genetic epilepsies. Dr. Strug is the Associate Director of The Centre for Applied Genomics, and the Co-Director of its Statistical Analysis facility. Dr. Strug's team aims to translate genetic findings to identify therapeutic targets, and to build diagnostic and predictive models for early intervention.

Editorial Board

Dr. Muhammad Abu-Elmagd, PhD
Associate Professor, Center of Excellence in Genomic Medicine Research
King Abdulaziz University
Jeddah, Saudi Arabia

Dr. Mourad Assidi, PhD
Assistant Professor, Center of Excellence in Genomic Medicine Research
King Abdulaziz University
Jeddah, Saudi Arabia

Dr. Thomas Bourgeron, PhD
Professor, University Paris Diderot
Head, Laboratory of Human Genetics and Cognitive Functions, Department of Neuroscience, Institut Pasteur
Paris, France

Prof. Adeel Chaudhary, PhD
Vice Director, Center of Excellence in Genomic Medicine Research
King Abdulaziz University
Jeddah, Saudi Arabia

Dr. Brian H.Y. Chung, MD, MSc
Associate Professor, Department of Paediatrics & Adolescent Medicine
LKS Faculty of Medicine
Hong Kong, China

Prof. Emmanouil (Manolis) T. Dermitzakis, PhD
Professor, Department of Genetic Medicine and Development
University of Geneva Medical School, Geneva, Switzerland

Dr. Khalid A. Fakhro
Director, Human Genetics Department, Sidra Medicine
Assistant Professor of Genetic Medicine, Weill-Cornell Medical College

Dr. Lars Feuk, PhD
Associate Professor, Department of Immunology, Genetics and Pathology (IGP)
Uppsala University
Uppsala, Sweden

Prof. Jozef Gecz, PhD
NH&MRC Principal Research Fellow and Chair for the Prevention of Childhood Disability
The University of Adelaide
North Adelaide, Australia

Dr. David Gurwitz, PhD
Director, NLGIP, Department of Human Molecular Genetics and Biochemistry Sackler Faculty of Medicine
Tel-Aviv University
Tel-Aviv, Israel

Prof. Jonathan Haines, PhD
Professor and Director, Institute of Computational Biology
Case Western Reserve University
Ohio, USA

Prof. Robert A. Hegele, MD, FRCPC, FACP
Director, Blackburn Cardiovascular Genetics Lab and London Regional Genomics Centre
Robarts Research Institute
Ontario, Canada

Prof. Taosheng Huang, MD, Ph.D.
Director, Program of Mitochondrial Medicine; Director, Molecular Diagnostic laboratory
Division of Human Genetics, Cincinnati Children's Hospital Medical Center
Ohio, USA

Prof. J. Steven Leeder, PharmD, PhD
Director, Division of Clinical Pharmacology, Toxicology and Therapeutic Innovation
Children's Mercy Hospitals
Missouri, USA

Dr. Jeantine E. Lunshof, PhD
Assistant Professor, Department of Genetics
University of Groningen, University Medical Centre Groningen
Groningen, Netherlands

Dr. H. Tayfun Ozcelik, PhD
Dean, Department of Molecular Biology and Genetics
Bilkent University
Ankara, Turkey

Dr. Roger Pique-Regi, PhD
Assistant Professor, Center for Molecular Medicine and Genetics and Department of Obstetrics and Gynecology
Wayne State University
Michigan, USA

Prof. André Reis, M.D.
Director, Institute of Human Genetics
Friedrich-Alexander-Universität Erlangen-Nürnberg
Erlangen, Germany

Dr. Brent Richards, MD, MSc
Associate Professor, Departments of Medicine, Human Genetics, Epidemiology and Biostatistics
McGill University, Montreal
Québec, Canada

Wendy P. Robinson, PhD
Professor, Dept. of Medical Genetics
University of British Columbia
Senior Scientist, BC Children's Hospital Research Institute
Vancouver, Canada

Dr. Charles N. Rotimi, PhD
Director, Center for Research on Genomics and Global Health, NIH
Maryland, USA

Dr. Adam Shlien, PhD
Associate Director, Translational Genetics, Department of Paediatric Laboratory Medicine
The Hospital for Sick Children
Ontario, Canada

Prof. Joris Vermeesch, PhD
Department Chair, Head of Laboratory for Cytogenetics and Genome Research 
University of Leuven
Leuven, Belgium

Assistant Editor

Dr. Hin C. Lee, PhD
Program Manager, McLaughlin Centre
University of Toronto
Ontario, Canada

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