Plenary Speakers

Topic: Population genetics of Africa

PhD in Human Genetics from the University of the Witwatersrand, South Africa. Docent in Human Evolution and Genetics, Uppsala University, Sweden

Carina Schlebusch is Associate Professor in Human Evolution at the Department of Organismal Biology – Uppsala University (Sweden). She heads a research group that investigates human evolutionary history with a focus on Africa. Her research is funded by the Swedish Research Council, European Research Council and the Wallenberg foundation and her research projects investigates African history from a genetic perspective. Carina was born in South Africa and completed her PhD at the University of the Witwatersrand, Johannesburg. Her thesis dealt with the history of southern African population groups and specifically with the population genetics of San and Khoekhoe groups. In 2009, she moved to Uppsala University, where she completed a Wenner Gren fellowship postdoc. After her postdoc, she continued her research at Uppsala University and started her own research group. The Schlebusch group uses genetic research as a tool to investigate African population history and migrations of people within the African continent.

Topic: Pre natal testing

Dennis Lo is a Hong Kong molecular biologist, and an important contributor to the development of non-invasive prenatal testing. He is the current Associate Dean (Research) and Li Ka Shing Professor of Medicine at the Chinese University of Hong Kong (CUHK), as well as the Head of the Department of Chemical Pathology of CUHK and the Director of the Li Ka Shing Institute of Health Sciences. His research focuses on the detection of cell-free fetal DNA in blood plasma.

He received his medical and research degrees from the University of Cambridge and the University of Oxford. He returned to Hong Kong in 1997 and in the same year discovered the presence of cell-free fetal DNA in maternal blood. He has translated this discovery into a new platform for non-invasive prenatal testing which is now used globally. He has also applied this technology for early cancer detection. He is a Fellow of the Royal Society and a Foreign Associate of the US National Academy of Sciences, and is the winner of the 2017 Future Science Prize in Life Sciences, and the 2021 Breakthrough Prize in Life Sciences.

Dennis Lo’s research into non-invasive prenatal testing was interrupted in 2003 by the SARS outbreak. An infected patient was treated at the Prince of Wales Hospital, the teaching hospital for CUHK Faculty of Medicine, turning the hospital into one of the epicenters in Hong Kong. His group was one of the first to sequence the SARS virus and to discover the existence of multiple viral strains. Apart from non-invasive prenatal testing, Lo started investigating cancer diagnosis, profiling and prognosis from circulating tumor DNA using NGS in 2012, when he reported the genetic profiling of cancer in patients’ blood plasma.

Topic: The next frontier in personal genomics

Eric Jeffrey Topol is an American cardiologist, scientist, and author. He is the founder and director of the Scripps Research Translational Institute, a professor of Molecular Medicine at The Scripps Research Institute, and a senior consultant at the Division of Cardiovascular Diseases at Scripps Clinic in La Jolla, California. He is editor-in-chief of Medscape and theheart.org. He has published three bestseller books on the future of medicine: The Creative Destruction of Medicine (2010), The Patient Will See You Now (2015), and Deep Medicine: How Artificial Intelligence Can Make Healthcare Human Again (2019). He was also commissioned by the UK 2018–2019 to lead planning for the National Health Service’s future workforce, integrating genomics, digital medicine, and artificial intelligence.

In 2016, Eric Topol was awarded a US$207 million grant from the National Institutes of Health to lead a significant part of the Precision Medicine Initiative (All of Us Research Program), a one million American prospective research program. This is in addition to his role as principal investigator for a US$35 million grant from the National Institutes of Health to promote innovation in medicine and the education and career training of future medical researchers.

As a researcher, Topol has published over 1,200 peer-reviewed articles, with more than 310,000 citations, h-index 235, elected to the National Academy of Medicine, and is one of the top 10 most cited researchers in medicine. His principal scientific focus has been on the genomic and digital tools, with the use of artificial intelligence analytics, to individualize medicine. He also pioneered the development of many medications that are routinely used in medical practice including t-PA, Plavix, Angiomax, and ReoPro. He has led clinical trials in over 40 countries involving over 200,000 patients (first in series – GUSTO trials). He has edited over 30 books, including the Textbook of Interventional Cardiology (8th ed – Elsevier, 2020), and the Textbook of Cardiovascular Medicine (3rd ed – Lippincott Williams & Wilkins).

Topic: Diagnostic application of the new reference genome – contrasting T2T full reference genome to GRCh38 in a clinical setting

Fowzan Alkuraya graduated with first class honors and was the valedictorian of his class from the College of Medicine at King Saudi University, Riyadh, Saudi Arabia. Dr Alkuraya completed his residency in pediatrics at Georgetown University Hospital, Washington DC, USA. He then did two fellowships in clinical genetics and molecular genetics at Harvard Medical School. He finished a postdoctoral research fellowship in the area of developmental genetics in the lab of Professor Richard Maas, also at Harvard Medical School. He is s board certified in Pediatrics by the American Board of Pediatrics and by the American Board of Medical Genetics.

The American Society of Human Genetics (ASHG) named Fowzan S. Alkuraya M.D. as the 2020 recipient of the Curt Stern Award. The award, which includes a plaque and a $10,000 award, is named after the late pioneering geneticist Curt Stern.

Alkuraya is an authority in the area of Mendelian genetics, with more than 420 published manuscripts that describe his lab’s discovery of hundreds of novel disease genes in humans.
Through his work on the “autozygome,” he recognized that the special population structure of Saudi Arabia made it possible to use regions of homozygosity to arrive at an accurate map of the morbid human genome for the benefit of mankind.

Heather Mefford, MD, PhD, is a physician scientist and Member in the Center for Pediatric Neurological Disease Research at St. Jude Children’s Research Hospital. She completed her MD and PhD in Genetics at University of Washington, after which she completed a Pediatrics residency and Medical Genetics fellowship at UW and Seattle Children’s Hospital. She went on to establish her research program in the genetics of rare pediatric disease at UW, where she remained until moving to St. Jude Children’s Research Hospital in 2021. Her research is dedicated to gene discovery in pediatric neurological diseases, focusing on epilepsies, with the goal to leverage information about genetic etiology to develop precision therapies. Her work helped define the genetic landscape of rare developmental and epileptic encephalopathies using cutting edge genomic technologies. Using engineered and patient-derived cells, her group develops cellular models of genetic epilepsy for characterization and testing potential targeted therapies. She is a scientific advisor for several patient advocacy groups, co-chairs the ClinGen Neurodevelopmental Disorder Clinical Domain Working Group and Epilepsy Gene Curation Working Group, was co-PI for the Epi4K Consortium, and is Secretary of the Board for the American Society of Human Genetics.

Topic: Cancer Biology , Genetics, Genomics

Dr. Lupien is a world-renowned cancer scientist. His research in chromatin and epigenetics has pioneered the study of the noncoding genome and accelerated the development of chromatin and epigenetic-based precision medicine against cancer. Among other honours, Dr Lupien is a Senior Scientist at the Princess Margaret Cancer Centre (PM), a Professor at the University of Toronto (Canada) and holds a cross-appointment with the Ontario Institute for Cancer Research (OICR). He serves on the Senior Advisory Group and the Research Council on Oncology to the Princess Margaret Cancer Centre.
Dr. Lupien’s research in chromatin & epigenetics has pioneered the study of the non-coding genome to identify determinants of oncogenesis and accelerated the development of chromatin & epigenetic-based precision medicine against cancer.

Dr. Lupien earned his Ph.D. in experimental medicine at McGill University under the leadership of Dr. Sylvie Mader and carried out postdoctoral training in medical oncology as an Era of Hope Fellow at the Dana-Farber Cancer Institute under the mentorship of Dr. Myles Brown followed by an executive education at Harvard Business School Alumni. He joined the Princess Margaret Cancer Centre and the University of Toronto in 2012.

Among other honours, Dr. Lupien is a recipient of the Canadian Cancer Society Bernard and Francine Dorval Award for Excellence, is a two times recipient of the Till and McCulloch Discovery of the Year award and the Investigator Award from the OICR.

Topic: Genomics and the future of Medicine

Professor Zatz’s accomplishments have been recognized and she has received many awards and prizes, including the 2000 L’Oréal-UNESCO Awards for Women in Science and the 2001 Claudia Woman of the Year Award, by Claudia Magazine.

Born in Israel in 1947, she moved to France with her family and lived there until the age of seven years. Her father, Lony Eden (1912-1984) was from Dorohoi, Romania and her mother Ella Kott Eden (b.1914) was from Warsaw. In 1939, her parents fled the Wehrmacht’s advance and arrived in Israel where Mayana and her sister were born. Mayana arrived in Brazil with her family in 1955.

Mayana obtained a BA in Biology at University of São Paulo in 1968, a M.Sc. and a D.Sc. in Biological Sciences from University of São Paulo in 1970 and 1974, respectively, her post-doctorate in Medical Genetics at the University of California at Los Angeles (UCLA), in 1977, and her livre-docência from University of São Paulo, in 1987. Mayana became interested in the study of muscular dystrophies when she was at college and followed a patient from a family with a high incidence of the condition, and who wanted to start a family.

In 1969, Dr Zatz started her work in genetic counseling in families which were carriers of neuromuscular diseases, in order to evaluate as well as to inform the risk of having offspring with a similar problem. Twelve years later she contacted these same families again, and found that most of the high risk families had avoided having children. On the other hand, Mayana was shocked to see the way the sick children born during that period had been abandoned. These children, who generally had a normal mental development but whose muscular problems were not treated, neither went to school nor underwent physical therapy.

Topic: Academic and Social Consequences of Past Classifications of African Peoples

Shomarka Keita is biological anthropologist and physician. His interests include biological variation in Africa, early African history, the skeletal biology of early Nile Valley populations, the conceptualization of human variation, the notion of “race” the persistence of racism and bias in science (and anti-racist approaches), and the health of disadvantaged populations. Dr. Keita received the DPhil from Oxford University, and MD from Howard University. He has affiliations with the Smithsonian Institution, the Center for Research on Genomics and Global Health, and is a general medical officer at St. Elizabeths Hospital in Washington, DC.