Insights from Tunisia and Qatar Genome Projects is the eighth lecture of the Logical Reasoning in Human Genetics course, hosted by Columbia Global Centers | Tunis in partnership with Institut Pasteur de Tunis.
This lecture will be presented by :
. Dr. Yosr Hamdi who holds a Ph.D. in Molecular Medicine from Laval University, Quebec, and is currently an Assistant Biologist at the Laboratory of Biomedical Genomics and Oncogenetics at Institut Pasteur de Tunis, Tunisia. Some of her research interests and activities concern: 1- Applications of high throughput sequencing methods in precision medicine; 2- Investigation of breast cancer genetic landscape in North African populations and evaluation of the impact on the response to conventional and targeted therapies.
. Dr. Hamdi Mbarek who obtained his Ph.D. in molecular and cellular biology at the University of Évry Val d'Essonne in Paris, France, and completed his first postdoctoral research on the genomics of complex diseases at the University of Tokyo in Japan and a second one on the genetics of psychiatric diseases and genetics of addiction at VU University in the Netherlands. He leads an international collaborative consortium, the Twinning Genetics Consortium, to study the genetics of twinning and birth weight in twins. After 30 years of research, Dr. Mbarek was the first scientist to find the first genes responsible for dizygotic twinning, and in 2016, his paper was cited in the media in more than 40 countries around the world. He is the Scientific and Industry Partnerships Manager at Qatar Genome.
We will be also pleased to have among us:
Pr. Joseph Terwilliger, professor at the Department of Genetics and Development, Columbia University
Pr. Joseph H. Lee, Professor in Epidemiology at the Columbia University Medical Center, Columbia University
Pr. Ghada Elkameh, Professor of Clinical Genetics, Coordinator of the Hereditary Blood Disorders and Genodermatoses Clinics and Research Teams, Human Genetics and Genome Research Division, National Research Centre
Pr. Ryan Hernandez, Associate Professor, Bioengineering School of Pharmacy, University of California, San Francisco.
Dr. Sonia Abdelhak, Principal Biologist, Head of Research Unit, Institut Pasteur de Tunis.
Dr. Harald H. Göring., Bennett Dyke & Jean MacCluer Endowed Professor, the South Texas Diabetes and Obesity Institute & Department of Human Genetics, School of Medicine, San Antonio, Texas.
Dr. Markus Perola, Research Professor at the National Institute for Health and Welfare (THL), Helsinki, Finland.
Course description, overview, and goals:
This course is designed to examine the conceptual, empirical, and theoretical approaches to understanding the complex cause and effect relationships underlying human variation. Despite a century of quantitative research on evolutionary biology and genetics, our hypotheses about the phenogenetic (genotype + environment + culture -> phenotype) relationships underlying human variation seem poorly focused and often based on unnecessarily naïve models. The course will help participants review the basics of evolutionary biology, genetic epidemiology, gene mapping, and how to integrate these three disciplines to address questions of causality in human genetics.
In this course, students will develop critical thinking and logical reasoning skills to learn from what negative experimental results tell us about the architecture of disease and to question the assumptions underlying their experimental approaches to develop better study designs based on better hypotheses for future studies. One common reason experiments "fail" is because the question was poorly posed or the hypotheses being tested were incompletely thought out and justified, not because of technical or analytical errors. In fact, the results have been a major success in showing that the causal landscape is more complex than had been widely expected, but is in fact consistent with biological and evolutionary theory.
This course will introduce basic concepts of human evolution and population genetics — the processes that created the etiological architecture of complex human disease in today’s population. The course will try to explain why most human phenotypes are under the influence of an enormous number of (mostly individually rare) genetic factors that vary both within and between populations. The failures of genome-wide association studies to identify important risk factors for common disease will be shown to be completely consistent with what evolutionary theory actually predicts and is likewise consistent with real data from genetic studies in agriculture and model organisms. Because a researcher cannot do genetic experiments in humans but is rather forced to work with observational data, students will further discuss how the researcher searches for and utilizes natural experiments that approximate the studies we would design if we had a more convenient species to study. Since the evolutionary theory is so critical to understanding exposure distributions in genetic variation, it is critical for anyone working in genetic epidemiology to have a conceptual background in genetics.
This is not a technical how-to course. It is a conceptual trip through the ins and outs of human epidemiological genetics, from an evolutionary point of view, that tries to explain why we are finding what we are finding in genetic epidemiology, and examines why earlier dreams of genetically predictive personalized medicine have not come to fruition. Rather than teaching students how to analyze data, how to do research, and so on, this course will focus on critical reading of the literature, and examination of the assumptions and occasional contradictions underlying the search for understanding of the relationships between genetic variation and human disease.