Chief Guest 9M CME  

Chapter on Response to Controlled Ovarian Stimulation and Genetic associations in Indian women in JHRS 2023 .

A joint study by GeneTech (Dr. Anuradha Udumudi) and Hegde Fertility center (Dr. Vandana Hegde) enabled the identification of potential markers pertaining to response to COS in the Indian population. The study demonstrates that multi gene cumulative risk analysis may offer an additional tool for forecasting a poor responder to COS. Precise identification of the poor response group will facilitate evidence based, customised COS plan for patients with choice of suitable drugs, doses and adjunct therapies, which in turn may lead to improved success rates of treating infertility patients using assisted reproductive technology.

A study published in the American Journal of Human Genetics investigated the prevalence and impact of nonsense single nucleotide polymorphisms (SNPs) in the human genome. These variants introduce premature stop codons, potentially leading to truncated, nonfunctional proteins. By genotyping 805 nonsense SNPs across 1,151 individuals from 56 populations, researchers identified 169 genes with variable nonsense SNPs, with 99 genes showing inactivation in at least one individual. On average, individuals differed by 24 genes due to these SNPs alone. While most nonsense SNPs are slightly disadvantageous over evolutionary timescales, some may be advantageous, indicated by high population differentiation and frequency.