Speaker Bios

Kathryn North
Murdoch Children's Research Institute
Professor Kathryn North AC is Director of the Murdoch Children’s Research Institute and the David Danks Professor of Child Health Research at the University of Melbourne.

Professor North is a clinician-scientist and over the past decade she has focussed on the implementation of genomic medicine into clinical practice. Since 2016, she has led Australian Genomics, a national network of over 100 institutions around Australia, with the goal of embedding genomic medicine in the Australian health system. She has served on the Executive of GA4GH since 2014.

Professor North has received several awards and distinctions for her achievements including the Peter Wills Medal (2019) in recognition of her long-term contribution to building Australia’s international reputation in health and medical research. In 2019 she was awarded one of Australia’s highest honours, Companion (AC) of the Order of Australia, in recognition of her eminent service to genomic medicine.

Mark Caulfield
Barts Lifesciences and Queen Mary University of London
Vice Principal for Health for Queen Mary’s Faculty of Medicine and Dentistry
Professor Sir Mark Caulfield is Vice Principal for Health, Professor of Clinical Pharmacology at Queen Mary University of London and the CEO of Barts Life Sciences, a research and innovation partnership between Queen Mary University of London and Barts Health NHS Trust.

Professor Caulfield graduated in Medicine in 1984 from the London Hospital Medical College and trained in Clinical Pharmacology at St Bartholomew’s Hospital where he developed a research programme in molecular genetics of hypertension and translational clinical research.

At Queen Mary University of London Professor Caulfield has made substantial contributions to the discovery of genes related to blood pressure, cardiovascular health, cancer and rare diseases. His research has changed national and international guidance for high blood pressure. He was Director of Queen Mary’s William Harvey Research Institute between 2002-2020 and was elected to the Academy of Medical Sciences in 2008.

Professor Caulfield was appointed Chief Scientist for Genomics England in 2013, charged with delivery of the 100,000 Genomes Project on whole genome sequencing in rare disease, cancer and infection. At Genomics England, he was instrumental in delivering the 100,000 Genomes Project which has delivered life-changing results for many patients. He has also worked with NHS England to co-create the National Genomic Test Directory, which offers equitable access for 56 million people to appropriate genomic tests. Professor Caulfield was awarded a knighthood in 2019 for his leadership of the 100,000 Genomes Project.

In July 2021, Professor Caulfield stepped down from his role as Chief Scientist for Genomics England and is taking a major leadership in Barts Life Sciences a partnership between Queen Mary University of London and Barts Health NHS Trust. This is driving the development of a world-leading life sciences campus at Whitechapel focusing on digital precision healthcare. He is a member of the Barts Health NHS trust Board and is the President Elect of the British Pharmacological Society.

Zornitza Stark
Australian Genomics
Clinical Geneticist
Zornitza Stark is a Clinical Geneticist at the Victorian Clinical Genetics Services (VCGS) and Lead Investigator of the Australian Genomics Acute Care Genomics study.

Zornitza completed her medical studies, including an intercalated science degree with first class honours, at the University of Oxford, UK. This was followed by paediatric training at the Royal Children’s Hospital in Melbourne and advanced training in clinical genetics at VCGS. She was appointed as a consultant at VCGS in 2011. Her main area of practice is paediatric genetics, with a special interest in the clinical application of genomic testing technologies for the diagnosis of rare genetic conditions.

Heidi Rehm
Broad Institute of MIT and Harvard
Institute Member
Heidi L. Rehm, PhD, FACMG is the Chief Genomics Officer in the Department of Medicine and at the Center for Genomic Medicine at Massachusetts General Hospital (MGH). She is also Medical Director of the Broad Institute Clinical Research Sequencing Platform and Professor of Pathology at MGH, Brigham & Women's Hospital and Harvard Medical School. She is a board-certified laboratory geneticist and leader in defining standards for the interpretation of sequence variants and a principal investigator of ClinGen, providing free and publicly accessible resources to support the interpretation of genes and variants. Rehm also co-leads the Broad Center for Mendelian Genomics with Daniel MacArthur focused on discovering novel rare disease genes and co-leads the Matchmaker Exchange to aid in gene discovery. She is a strong advocate and pioneer of open science and data sharing, working to extend these approaches through her role on the executive committee of the Global Alliance for Genomics and Health. Rehm is also a principal investigator in the eMERGE consortium supporting genomic discovery and genomic medicine implementation, a principal investigator on a project to develop i2b2 into a Health Innovation Platform for clinical decision support and a principal investigator of the Broad-LMM-Color All of Us Genome Center supporting the sequencing and return of results to a cohort of one million individuals in the US.

Augusto Rendon
Genomics England
Chief Bioinformatician
Augusto Rendon holds an undergraduate degree in Physics from the Universidad de los Andes, Bogota, Colombia. Rendon undertook his PhD at the University of Toronto in the Department of Medical Biophysics. Rendon then moved to the University of Cambridge to pursue postdoctoral work in computational biology and statistical genomics. Rendon currently holds a Principal Research Associate position at the University of Cambridge in the Department of Haematology. Since 2014 Rendon has been seconded to Genomics England as Director of Bioinformatics. There, Rendon leads a team of over 50 developers, analysts, bioinformaticians, and curators. Rendon's team is responsible for establishing pipelines to analyse and manage all genomic data for the UK 100,000 genomes project and the future NHS Genomic Medicine Service. They have designed and implemented the clinical interpretation pipelines that return findings to patients, while ensuring that knowledge accumulated through this process is best exploited to improve patient care and enhance discovery. These days, Rendon spends most of his time focusing on the human, scientific, and technological aspects of building large, resilient, [bio]informatics, systems for genomic medicine. Rendon is hoping to jump on the machine learning bandwagon using clinical and genomic data.

Oliver Hofmann
Australian Genomics
Oliver is the Head of Bioinformatics at Centre for Cancer Research and an Associate Professor at the University of Melbourne. His team builds platforms and workflows for rapid whole genome analysis of cancer patients. He has previously worked in Scotland on the National Genome Partnership program and developed a bioinformatics core for the Harvard T.H. Chan School of Public Health. He co-leads the AGHA Bioinformatics Program.

David Hansen
CEO, Australian e-Health Research Centre
David Hansen is CEO and Research Director of the Australian e-Health Research Centre at CSIRO – Australia’s national science agency. The AEHRC is CSIRO’s digital health research program and a joint venture between the CSIRO and Queensland Health.
With over 100 scientists and engineers across health informatics, biomedical informatics and health services research, the AEHRC is Australia’s largest digital health research centre.
David is in leadership positions with the Australian Genomics Health Alliance, the NHMRC Centre for Research Excellence in Digital Health and the Australian Alliance for Artificial Intelligence in Healthcare. David is also a workstream leader for the Global Alliance for Genomics and Health. David is the previous Board Chair of the Health Informatics Society of Australia and member of the Clinical and Technical Board Advisory committee for the Australian Digital Health Agency.
Prior to joining CSIRO, David held senior positions leading technology research and development for SRS with LION Bioscience Ltd in the UK and before that the European Bioinformatics Unit.
David is passionate about the role of information and communication technologies in health care and the role of digital health professionals in developing a safe, high quality efficient and sustainable healthcare system.

Thomas Keane
EMBL-European Bioinformatics Institute
Team Leader
Thomas Keane is the Team Leader for the European Genome Phenome Archive (EGA) and the European Variation Archive (EVA) at EMBL-EBI. He is responsible for strategic planning for EGA and EVA, co-chairs the Data and Interoperability team of the International Hundred-K Cohorts Consortium, and is a member of the Global Alliance for Genomics and Health (GA4GH) steering committee. Before joining EMBL-EBI as Team Leader in 2016, Thomas led the Sequence Variation Infrastructure group in the Computational Genomics programme at the Wellcome Sanger Institute. His research interests are in using genomic technologies to understand biological processes, with a particular focus on rodent models for human disease. He is the scientific lead for the Mouse Genomes Project, a collaboration with the Wellcome Sanger Institute. He also holds an honoarary professorship at the University of Nottingham.

Ellen McDonagh
Genomics England
Head of Curation & Pharmacogenomics
Dr. McDonagh is the Head of Curation and Pharmacogenomics at Genomics England, where she has helped pioneer the crowdsourcing of expertise for the curation of gene panels for rare disease and cancer. Her team uses PanelApp to integrate this information with additional evidence to produce consensus diagnostic-grade gene panels, which are then used for genome analysis in the 100,000 Genomes Project and the upcoming NHSE Genomic Medicine Service. Dr. McDonagh is also involved in the curation of evidence-based actionable information and pharmacogenetics, dedicated to supporting the use of genomic information and curated evidence for the prediction of drug responses to improve patient safety and therapeutic outcomes. She is an active member of the NHSE-Genomics England Pharmacogenetics Working Group and Clinical Pharmacogenetic Implementation Consortium. Prior to her role at Genomics England, she worked as a Scientific Curator at the Pharmacogenomics Knowledge Base (PharmGKB), Stanford University, California. Her work included the production of clinical guidelines regarding therapeutic recommendations based on a patient’s genotype, the critical assessment of evidence for gene-drug associations, and the publication of genetically associated Pharmacokinetic/Pharmacodynamic pathways. She is on the Science and Industry Advisory Board (SIAB) for ELIXIR-UK and the Steering Committee for The UK Pharmacogenetics and Stratified Medicine Network.

Prof. Bartha Knoppers
Centre of Genomics and Policy
Bartha Maria Knoppers, PhD (Comparative Medical Law), is a Full Professor, Canada Research Chair in Law and Medicine and Director of the Centre of Genomics and Policy of the Faculty of Medicine at McGill University. She is Chair of the Ethics and Governance Committee of the International Cancer Genome Consortium (2009-2017), as well as the Ethics Advisory Panel of WADA (2015- ). She is Co-Chair of the Regulatory and Ethics Workstream of the Global Alliance for Genomics and Health (2013- ). In 2015-2016, she was a member of the Drafting Group for the Recommendation of the OECD Council on Health Data Governance and gave The Galton Lecture in November 2017. She holds four Doctorates Honoris Causa and is a Fellow of the American Association for the Advancement of Science (AAAS), the Hastings Center (bioethics), the Canadian Academy Health Sciences (CAHS), and, the Royal Society of Canada. She is also an Officer of the Order of Canada and of Quebec, and was awarded the 2019 Henry G. Friesen International Prize in Health Research.

Madeleine Murtagh
University of Newcastle
Professor of Sociology and Bioethics
Prof. Madeleine Murtagh is currently Chair in Sociology and Bioethics and Director of the Centre for Policy, Ethics and Life Sciences (PEALS), Newcastle University. She leads a team of social and data scientists conducting social studies of sociotechnical and normative practices in health and social care research data sharing and governance, particularly interventionist, collaborative ethnographic studies with(in) data science. Prof Murtagh’s work examines the epistemic, normative and social effects of health, social and genomic data science. Alongside this work, the she develops new forms of governance for responsible data sharing in health and social care services, biobanks and cohort studies which centrally involve citizens and research participants in ethical and governance decision-making. This work is carried out in the context of transdisciplinary and intersectoral research teams.

Clara Gaff
Melbourne Genomics Health Alliance
Executive Director
Clara has been involved in the use of genetics and genomics in health care for almost 20 years through roles in genetic counselling, management of genetic services, health professional education, and strategic development in Australia and the UK. She has worked in public health, government, academic and not-for-profit sectors. Clara has a PhD in molecular genetics, certification in genetic counselling and postgraduate qualifications in health service research and evaluation. She is a Member of the National Health and Medical Research Council (NHMRC) Human Genetics Advisory Committee and the Ethics and Social Issues Committee of the Human Genetics Society of Australia.

Tiffany Boughtwood
Australian Genomics
Tiffany Boughtwood is the Program Manager of Australian Genomics, responsible for the executive operations of the research network across Australia.
Tiffany has more than 20 years’ experience in molecular biology and research management. She has led accredited genomic sequencing facilities, operated academic and accredited diagnostic laboratories, engaged in research in neurodegenerative diseases and cancer, and consulted in genomic implementation and project management.
Over the past three years with Australian Genomics, Tiffany has managed a distributed network of staff to support the coordination, delivery and process evaluation of this large $55M program of work. In this time, the Australian Genomics collaboration has tripled in size to more than 100 partner institutions, and 450 investigators and collaborators.

Anna Middleton
Wellcome Connecting Science, Wellcome Genome Campus (inc Sanger)
Associate Director
Anna is Head of Society and Ethics Research at the Wellcome Genome Campus in Cambridge. She is also the Chair of the Association of Genetic Nurses and Counsellors in the UK. She leads international research about public attitudes towards genomics and is the Chief Investigator on the Your DNA, Your Say project for GA4GH. She writes policy and education curricula for genetic counsellors and has a particular interest in how genomic medicine is delivered.

peter goodhand
Peter Goodhand is a senior executive and board member in the global health sector.

Goodhand played a key role in the creation of the Global Alliance for Genomics and Health (GA4GH) and was appointed as its founding Executive Director in 2014, and as Chief Executive Officer in 2018. From May 2016 to April 2018, he also served as the President of the Ontario Institute for Cancer Research (OICR).

Prior to the GA4GH and OICR, he was the President and Chief Executive Officer of the Canadian Cancer Society, Canada's largest health charity. Before joining the charitable sector, Goodhand had a 20 year career in the global medical technology industry, including strategic leadership roles with multinational healthcare companies such as American Cyanamid and Johnson & Johnson; Board Chair and President of Canada’s Medical Device Industry association (MEDEC); and as the founding Managing Director and the Board Chair of the Health Technology Exchange (HTX).

Goodhand is currently Co-Chair of the Medical and Scientific Advisory Board of Global Genes, Co-Chair of the International 100K+ Cohorts Consortium (IHCC), member of the Global Genomic Medicine Collaboration (G2MC) Steering Committee, Chair of the Canadian Genomic Partnership for Rare Disease, and member of the Occupational Cancer Research Centre Steering Committee.

He chaired the Government of Canada’s Expert working group on the future of medical isotope production, and was a member of the Canadian delegation to the UN summit on non-communicable diseases.

Sue Hill
NHS England
Chief Scientific Officer
Professor Sue Hill OBE PhD DSC CBiol FRSB Hon FRCP Hon FRCPath is the Chief Scientific Officer for England – providing expert clinical scientific advice across the health system and head of profession for the healthcare science workforce in the NHS and associated bodies – embracing more than 50 separate scientific specialisms. Sue is the Senior Responsible Officer for Genomics in NHS England, leading developments in this area, having previously established the NHS Genomic Medicine Centres and led the NHS contribution to the 100,000 Genomes Project. She is a respiratory scientist by background with an international academic and clinical research reputation.

Torsten Schwede
University of Basel
Chair of the SPHN Scientific Expert Board
Torsten Schwede is vice president for research at the University of Basel, Switzerland, and group leader at the SIB Swiss Institute of Bioinformatics. Trained as a chemist at the University of Bayreuth and the Albert-Ludwigs-University in Freiburg (Germany), where he completed his PhD in protein crystallography, he moved to Geneva to conduct research in structural bioinformatics at the global pharmaceutical company GlaxoSmithKline. In 2001, Torsten joined the Biozentrum of the University of Basel as professor for structural bioinformatics (TTAP), and a year later he became group leader at the SIB Swiss Institute of Bioinformatics. During the following years, he contributed in various roles to community efforts in computational biology and bioinformatics, e.g. he is a co-organizer of the CASP experiment, served as member of the executive board of directors at the SIB for more than ten years, and acted as chair of the ELIXIR board (2015/16). In the context of the SPHN Swiss Personalized Health Network, Torsten established the Data Coordination Center in Basel and is chairing the Scientific Expert Board.

David Glazer
Terra CTO
David Glazer is an engineering director at Verily Life Sciences, where he helps life science organizations use cloud computing to accelerate and scale their work with big data. He is a PI for the Data and Research Center, and a member of the Steering Committee, of the NIH All of Us Research Program, and he serves on the NIH Advisory Committee to the Director. He is co-chair of the Cloud Workstream, and a member of the Steering Committee, of the Global Alliance for Genomics and Health (GA4GH). He previously worked at Google, where he founded the Google Genomics team, and led a variety of platform, product, and infrastructure teams. Prior to joining Google in 2006, he successfully started two companies: Eloquent in 1995 (IPO 2000), which used rich media to power business communications, and Verity in 1988 (IPO 1995), which did full-text search. David grew up in Massachusetts, where he earned a BS in physics from MIT.

Mogomotsi Matshaba
Human Heredity and Health in Africa (H3Africa)
Executive Director
Dr. Mogomotsi Matshaba, Assistant Clinical Professor of Pediatrics, Retrovirology, Baylor College of Medicine, and Executive Director- Botswana-Baylor Clinic, is a graduate of University College of Dublin, Ireland. He worked as a medical officer in Botswana from 2005-2008, during which time he spent one year as a physician-in-training at the Botswana-Baylor Children's Clinical Center of Excellence. He completed his residency training in pediatrics at Baylor College of Medicine (2008 to 2011). In 2014 he moved to Swaziland Centre of Excellence as the Interim Executive Director and later returned to Botswana to Botswana at the end of the same year. He is the Principal Investigator of several studies including the NIH funded Collaborative African Genomics Network (CAfGEN) leading a team of researcher from 6 institutions and 4 countries. He is the co-chair of the H3Africa Steering Committee. He is also the chairman of the National HIV/Syphilis Elimination Validation Committee. He sits in several Ministry of Health and Wellness Committees as the pediatric expert: Botswana National HIV Guidelines Committee, TB/ HIV Integration Technical Working Group, HIV Drug Forecasting and Procurement Committee, TB/HIV Drug Resistance Technical Working Group, Adolescent HIV Guidelines Committee among others.

Makoto Suematsu
GEnome Medical alliance Japan (GEM Japan)
Dr. Makoto Suematsu is the President of the Japan Agency for Medical Research and Development (AMED). AMED was established in 2015 to progress medical innovation and overcome barriers between sectors by connecting talented individuals and groups with each other. Dr. Suematsu has led AMED to enter Memorandum of Cooperation agreements with several of their counterparts including the United States of America, the United Kingdom, Singapore, Spain, Australia and Lithuania. Dr. Suematsu also represents Japan on a number of overseas institutions and global consortiums including the International Rare Diseases Research Consortium, Global Research Collaboration for Infectious Disease Preparedness, Joint Programming Initiative on Antimicrobial Resistance and the International Human Epigenome Consortium.