About the Editors
Editor-in-Chief
Stephen W. Scherer, PhD, DSc, FRSC
Chief of Research and Director, The Centre for Applied Genomics
The Hospital for Sick Children and the University of Toronto McLaughlin Centre
Toronto, Canada
Dr. Scherer is Chief of Research and holds the Northbridge Chair in Paediatric Research at The Hospital for Sick Children (SickKids) and University of Toronto (UofT). He is also Director of the UofT McLaughlin Centre, as well as The Centre for Applied Genomics at SickKids. His team contributed to the landmark discovery of global gene copy number variation (CNV) as a common form of genetic variation in human DNA, as well as its role in disease. His research is documented in over 650 scholarly publications, and the Database of Genomic Variants he founded, which now catalogues >2 million CNVs, facilitates hundreds of thousands of clinical diagnoses each year.
Managing Editor
Aparna Anantharaman, PhD
Aparna earned her PhD in bioscience from New Delhi, India where she designed and tested antibiotic peptides against pathogenic bacteria. She then moved to the US to work as a postdoctoral researcher and gained over nine years of research experience in gene regulation and RNA biology. Aparna has expertise in advanced molecular and cellular biology, biochemistry, biophysics, and basic bioinformatics. She transitioned into publishing in 2023 and now serves as a Managing Editor for the npj Series. She is based in the Philadelphia office.
Associate Editors
Mohammed Al-Qahtani, PhD
Exec. 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 interest 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.
Hon-Yin, Brian Chung, PhD
University of Hong Kong and Hong Kong Genome Institute
Hong Kong, China
Dr. Chung was trained at The University of Hong Kong and subsequently at the University of Toronto, The Hospital for Sick Children, specialising in Clinical Genetics. Dr. Chung joined the Hong Kong Genome Institute as the Chief Scientific Officer in 2021, and is currently the President-Elect of the Asia Pacific Society of Human Genetics. His research focuses in (1) Medical application of whole genome technologies, and (2) Clinical genetics & genetic counselling.
Charis Eng, MD, PhD
Hardis/ACS Professor and Chairwoman, Genomic Medicine Institute
Cleveland Clinic
OH, USA
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.
Pui-Yan Kwok, MD, PhD
Institute of Biomedical Sciences Academia Sinica (Taiwan)
Cardiovascular Research Institute
University of California, San Francisco
CA, USA
Dr. Kwok's research focuses on developing tools and strategies to study the human genome and the role of human variation in common diseases. He developed single molecule strategies for genome mapping and rare genetic disease diagnosis. In addition, he recently launched an effort to bring genetics into clinical practice and implement precision management of common diseases.
Stephen F. Kingsmore, MD, DSc
President and CEO
Rady Pediatric Genomics and Systems Medicine Institute
CA, USA
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. 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.
Maria Rita Passos Bueno, PhD
Professor, Depto Genetica e Biologia Evolutiva
Universidade de São Paulo
São Paulo, SP, Brasil
Dr. Passos-Bueno, a human geneticist at the Human Genome and Stem Cell Center, Institute of Biosciences, University of São Paulo, brings forth over 25 years of expertise in unraveling the genetic architecture and molecular mechanisms of developmental disorders. Her laboratory synergizes genomic methodology with stem cell biology to understand the genetic, molecular, and cellular foundations of developmental disorders, notably autism spectrum disorder (ASD). 
Zornitza Stark, BM BCh, DM
Clinical Geneticist
Australian Genomics; Victorian Clinical Genetics Services, Murdoch Children's Research Institute
Melbourne, Australia
Professor Zornitza Stark trained at the University of Oxford and subsequently at the Royal Children’s Hospital and the Victorian Clinical Genetics Services, Melbourne, specialising in clinical genetics. Since 2014, she has worked on numerous projects through the Melbourne Genomics and Australian Genomics Health Alliances, all aimed at accelerating the integration of genomics into healthcare, particularly as a first-tier test in rare disease.
Lisa Strug, PhD
Assoc. Director, The Centre for Applied Genomics Senior Scientist
The Hospital for Sick Children
Toronto, Canada
Prof. Strug's research interests lie in the fields of statistical genetics and genetic epidemiology. Her research investigates the genetic epidemiology of cystic fibrosis and the neurodevelopmental phenotype of common genetic epilepsies. Dr. Strug's team aims to translate genetic findings to identify therapeutic targets, and to build diagnostic and predictive models for early intervention.
Kristiina Tammimies, PhD
Center for Neurodevelopmental Disorders
Karolinska Institutet
Stockholm, Sweden
Dr. Kristiina Tammimies research interests include using genome-wide methods to understand the genetic and molecular architecture of various neurodevelopmental disorders, and how genetic variations affect symptoms, severity and intervention outcomes in affected individuals. Additionally, she is interested in combining environmental and genomic information for predictions models to early detect childhood disorders.
Assistant Editor
Hin C. Lee, PhD, University of Toronto, Ontario, Canada
Advisory Editors
Ilse Ariadna Valtierra Gutierrez, PhD
Ilse is a Senior Editor at Nature Communications. She joined the Cancer team of the journal in June 2020 and handles manuscripts in different areas of cancer genomics and bioinformatics, as well as tumour heterogeneity and evolution. She has a PhD from the Ludwig Maximilian University of Munich, where she studied clonal heterogeneity and evolution in acute myeloid leukaemia using genomics and single-cell transcriptomics. Before that, she obtained her MSc in Molecular Biosciences from Heidelberg University, and her BSc in Genomic Sciences from the National Autonomous University of Mexico. She is based in the Madrid office.
Paraskevi Mallini, PhD
Paraskevi joined the Nature Communications Cancer Team in July 2020. Paraskevi completed her PhD at Newcastle University where she explored the impact of Epithelial-to-Mesenchymal Transition on breast cancer stem cells and drug resistance and continued with post-doctoral studies focusing on the role of hypoxia in these biological processes. She then worked on single cell technologies for identifying T cell receptor repertoires that are specific for cancer, infectious and autoimmune disease targets at the biotechnology industry for four years. Paraskevi handles cancer epigenomics and genomics manuscripts and is based in the London office.
Editorial Board
Muhammad Abu-Elmagd, PhD, King Abdulaziz University, Jeddah, Saudi Arabia
Stylianos E. Antonarakis, MD, PhD, University of Geneva, Geneva, Switzerland
Mourad Assidi, PhD, King Abdulaziz University, Jeddah, Saudi Arabia
Thomas Bourgeron, PhD, Institut Pasteur, Paris, France
Maria Chahrour, PhD, University of Texas Southwestern Medical Center, Texas, USA
Adeel Chaudhary, PhD, King Abdulaziz University, Jeddah, Saudi Arabia
Feixiong Cheng, PhD, Cleveland Clinic, Ohio, USA
Prof Ronald Cohn, MD, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
Robert Davies, PhD, University of Oxford, Oxford, United Kingdom
Emmanouil (Manolis) T. Dermitzakis, PhD, University of Geneva, Geneva, Switzerland
Andrew Dhawan, MD, DPhil, Rose Ella Burkhardt Brain Tumor and Neuro-Oncology Center, Cleveland Clinic, OH, USA
Khalid A. Fakhro, Weill-Cornell Medical College, Ar-Rayyan, Qatar
Lars Feuk, PhD, Uppsala University, Uppsala, Sweden
Prof. Jozef Gecz, PhD, The University of Adelaide, North Adelaide, Australia
David Gurwitz, PhD, Tel-Aviv University, Tel-Aviv, Israel
Jonathan Haines, PhD, Case Western Reserve University, Ohio, USA
Robert A. Hegele, MD, FRCPC, FACP, Robarts Research Institute, Ontario, Canada
Boon-Peng Hoh, PhD, International Medical University Bukit Jalil, Malaysia
Prof. Taosheng Huang, MD, PhD, University at Buffalo, NY, USA
Brendan Lee, MD, PhD, Baylor College of Medicine, TX, USA
Charles Lee, PhD, The Jackson Laboratory for Genomic Medicine, Connecticut, USA
Steven Leeder, PharmD, PhD, Children's Mercy Hospitals, Missouri, USA
Jeantine E. Lunshof, PhD, University of Groningen, Groningen, Netherlands
Christian R. Marshall, PhD, Division of Genome Diagnostics, The Hospital for Sick Children, Canada
Daniele Merico, PhD, Vevo Therapeutics, TCAG / The Hospital for Sick Children, USA
Kazuhiko Nakabayashi, PhD, National Center for Child Health and Development, Setagaya, Tokyo, Japan
Ying Ni, PhD, Cleveland Clinic, OH, USA
H. Tayfun Ozcelik, PhD, Bilkent University, Ankara, Turkey
Roger Pique-Regi, PhD, Wayne State University, Michigan, USA
Alexandre Reymond, PhD, Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland
André Reis, M.D., Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
Brent Richards, MD, MSc, McGill University, Montreal, Québec, Canada
Stephen P Robertson, MBChB DPhil, Laboratory for Genomic Medicine, University of Otago, Dunedin, New Zealand
Wendy P. Robinson, PhD, University of British Columbia, Vancouver, Canada
Charles N. Rotimi, PhD, National Institute of Health, Maryland, USA
Adam Shlien, PhD, The Hospital for Sick Children, Ontario, Canada
Mohammed Uddin, PhD, Mohammed Bin Rashid University of Medicine, Dubai, United Arab Emirates
Joris Vermeesch, PhD, University of Leuven, Leuven, Belgium
Ambroise Wonkam, MD, PhD, Johns Hopkins University School of Medicine, Maryland, USA
Ryan K. C. Yuen, PhD, The Hospital for Sick Children, Toronto, Canada
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