Claude Bh茅rer, PhD, an Assistant Professor in the Department of Human Genetics at the School of Biomedical Sciences, is fusing her passion for population genetics and evolutionary biology with her expertise in computational genomics to shed new light on genetic variations among French Canadians of Quebec for drug discovery and development. In addition to her academic appointment, she is also a researcher in the Canada Excellence Research Chair (CERC) program in genomic medicine at 91社区, where she leads the population genetics platform, as well as its current Chair of Equity, Diversity and Inclusion (EDI) in action committee.
Human genetics, founder populations and therapeutics research for rare diseases聽
Prof. Bh茅rer鈥檚 field of research is population genetics, and her intersectional background includes anthropology, molecular biology and computational analysis, as well as human genetics. Her work focuses primarily on analyzing human genetic variation and deciphering the evolutionary forces that have created genetic differences between individuals and populations.聽
During her PhD at the Universit茅 de Montr茅al, Prof. Bh茅rer discovered her interest in studying genetic features of founder populations to better understand rare diseases. Founder populations are derived from a limited group of 鈥渇ounders鈥� that have migrated to form a larger population. In the context of biomedical sciences, some founder populations are known for their particular heritage of genetic disorders. 聽
鈥淚t鈥檚 like pulling from this big bucket with lots of colourful beads and you just pull out a handful,鈥� Prof. Bh茅rer explained, with the large bucket representing the original source population and the colourful beads representing their genes. 鈥淏y chance, the distribution of colours you will have in your hand may be quite different from what was observed in the larger source population. Some rare variants (or rare colours) will disappear, but those that remain may increase in frequency compared to the source population.鈥澛犅�
This phenomenon, known as the founder effect, explains why some genetic diseases that are usually rare may be found at higher frequency in certain populations. However, this work extends beyond just identifying populations particularly at risk for rare diseases. Knowing the genetic makeup of a group can also be the key to identifying new drug targets. 鈥淚n our 91社区 CERC program, our mission is to use genetics to support drug discovery and development,鈥� said Prof. Bh茅rer.
Current research聽
Since completing her postdoc at 91社区 and beginning her academic appointment in April 2022, Prof. Bh茅rer has continued analyzing genetic data to better understand rare diseases in founder populations, particularly in Quebec, New Brunswick and Newfoundland. Her lab is currently studying a rare genetic disease called Leigh鈥檚 Syndrome French Canadian type (LSFC), which is a rare metabolic disorder that can lead to fatal lactic acidosis crisis during childhood and has a higher prevalence within the French-Canadian population of Quebec. Prof. Bh茅rer says this specific disease is what initially propelled her interest in genetics, as it had a significant impact on a member of her own family.聽
Prof. Bh茅rer is also engaged in multiple collaboration projects, including some that draw on her background in anthropology. One such project, in collaboration with her colleague Isabelle Ribot, PhD, Associate Professor in the Department of Anthropology at Universit茅 de Montr茅al, focuses on studying ancient DNA recovered from one of the first Montreal cemeteries to better understand the population that lived in the city during the seventeenth and eighteenth centuries.
EDI in genetics and genomics聽
Prof. Bh茅rer and the CERC team recently led the organization of a two-day virtual symposium on EDI in genomics, which was co-organized by the CIHR Institute of Genetics. In her CERC EDI role, she strongly advocates for addressing the lack of diversity in genomic research.聽聽
鈥淢ost of our current knowledge in genetics and its implication for health is derived from studies of European-descent populations鈥� explained Prof. Bh茅rer. 鈥淢uch less is known about genetic factors underlying diseases in other populations, such as African-descent or Indigenous populations.鈥� As genomic medicine becomes more and more adopted and has an expanding impact on clinical care, this gap in knowledge can translate into health care disparities for people from different backgrounds. Prof. Bh茅rer and other members of the CERC program are working hard to raise awareness and take actions towards filling this gap.
