Abstract Panel

Panel Details


 NameAffiliationCountry
Convenor Dr. Abhishikta Ghosh Roy Ministry of Culture, Government of India India
Co-convenor Dr. Helmut Schaschl University of Vienna Austria
Co-convenor Prof. Arup Ratan Bandyopadhyay University of Calcutta India
Panel No : P131
Title : Integration of human population genomics into biomedical research and healthcare
Short Abstract : Population genomics offers opportunity to gain insight into the evolutionary genetic history of populations, determines genetic ancestry of individuals, gains insight into the genetic architecture of human traits, and identify population-specific adaptive regions in the genome. However, understanding the role of population genomics in biomedical research/ health care requires insights into the interplay of environmental, social, and genomic risk factors as well as genetic history of humans. The panel invites papers with this multidimentional perspective.
Long Abstract :

A new mutation can have beneficial, deleterious, or neutral effects on the reproductive fitness of individuals. Deleterious alleles that confer a substantial disadvantage to an individual (i.e., reduce reproductive fitness) are permanently removed from the population by negative selection (genetic loci that evolve under strong negative selection are usually associated with rare, severe diseases). In contrast, mutations that confer a selection advantage (i.e., increase reproductive fitness) are maintained in the population (and may increase in frequencies until fixation) by positive selection. Natural selection has been shown to result in population-specific allele frequencies of (risk) alleles for certain diseases (or traits), and thus differential susceptibility to disease in populations. In particular, genes for immune response were targeted by natural selection, resulting in changed frequencies of certain alleles in some populations (e.g., malaria resistance genes in Africans such as ACKR1 (Atypical Chemokine Receptor 1 (Duffy Blood Group), G6PD (Glucose-6-Phosphate Dehydrogenase) and Human Leukocyte Antigen HLA-B53). Indeed, several studies showed that a significant fraction of population differences in immune responses to infection results from past events of local genetic adaptation driven by positive selection. The Neolithic transition from a hunter-gatherer lifestyle to an agricultural lifestyle about 9000-13000 years ago is also associated with substantial changes in diet, health, and social organization that have influenced recent human evolution. A well-known example of genetic adaption to diet changes in the last several thousand years is lactase persistence (the ability of human adults to digest the lactose in milk). It is thought that the culture-driven dietary transformation during the Neolithic demographic transition probably resulted in a loss of nutritional diversity, excess caloric availability, and a sedentary lifestyle. Together, these may contribute to many of the health challenges facing human societies today. The panel invites papers with this multidimentional  perspective.