Title

• Professor, Department of Pediatrics, Université de Montréal

• Researcher, Research Center, CHU Sainte-Justine

• Researcher, Robert-Cedergren Center in Bioinformatics and Genomics

Education

• Studies in Biology and Biochemistry (MSc – 1971, PhD – 1976 and additional degree, DSc – 1982) at Adam Mickiewicz University in Poznan, Poland

• Research training at the Center of Atomic Energy (Biochemistry Department) in Saclay (1971), at the Biological Research Center of the Hungarian Academy of Sciences in Szeged (1973), and postdoctoral studies at the Max-Planck Institute of Biophysical Chemistry in Göttingen, Germany (1978-1982)

Research Interests

Human genomic variation and the reconstruction of the long-term genetic history of human populations

We are interested in describing the patterns of human genome variation because of its general biological interest and its significance in genetic epidemiological quests of complex traits. Our research goals are to investigate the genomic and evolutionary factors determining genetic variation across human populations, to characterize this variation and the underlying evolutionary and genetic mechanisms to better understand the origins and the history of our species. We study the diversity of DNA segments from chromosome X characterized in our extended collection of genomic samples from all over the world. To this end, we also collaborate with different laboratories and institutions. We use a variety of models and tools from statistics and population genetics, including the coalescent model, to analyze the data and to infer population history. In our quests, we also rely on the increasingly available genotyping and re-sequencing results to enrich our datasets and extend our analyses. Our projects combine wet and dry lab or only rely on dry lab approaches.

Genomic evolution and its functional implications

Our goal is to examine the extent and patterns of genetic diversity along the genome to understand the underlying genetic mechanisms of mutation and recombination, the differential effects of demography and selection, and to use this information to map functional variation. We design new approaches to analyze patterns of recombination density at the sequence level. We develop tests to assist genomic mapping of variants associated with allelic imbalance and transcription regulation. We develop tests based on the use of haplotype allelic classes to detect signatures of adaptive selection. The proposed statistics are validated by coalescence simulations and by using existing data sets on human genomic variation.

Genetic and demographic history of the population of Québec

To understand the genetic and demographic past of human populations, from the emergence of Homo sapiens in Africa through the colonization of continents down to local contemporary populations, we have to understand recent events as well. Different regions of Québec are studied to understand the effects of recent migrations, of founder events and of the demographic history on patterns of genetic variation in the human genome. We study the distribution of genetic variation by simulation using real ascending genealogies. In parallel, we analyze genetic data on parental lineages and the results of the whole genome diversity scans. We analyze the effect of demography on the genetic population structure, on linkage disequilibrium and how we can use this combined information in genetic epidemiology to map studies of complex and Mendelian traits.

Molecular in vitro selection and diagnostic probes

For years, my laboratory has been involved in the development on new molecular diagnostic and genetic mapping approaches. Currently, we use in vitro molecular evolution to obtain robust DNA probes for structurally similar multiplex targets, such as different strains of the human papilloma virus (HPV). Similar to SELEX, our approach of iterative hybridization can be used to design diagnostic tools for a variety of nucleic acids targets.

• Fellowships at the Commission d’Énergie Nucléaire en France and at the Hungarian Academy of Sciences

• Annual Research Awards from the Rector of the Adam Mickiewicz University

• Postdoctoral Fellowship of the Max-Planck Gesellschaft

• Senior 1 and 2 Scholarships from the Fonds de recherche en santé du Québec