Chief Guest 9M CME  

Review article on Genetic Counseling for PGT-M in Frotiers of Reproductive Healthcare 2023.

The paper was published with Dr. Firuza Parikh as first author and Dr. Anuradha Udumudi as one of the coauthors. The review discusses the role of genetic counseling for families undergoing PGT-M at ART clinics. It describes process and benefits of genetic counseling, procedure for PGT-M, overview of laboratory PHT-M workup, classification of genomic variants and their pathogenicity, complex decision-making situations involving variants of uncertain significance, PGT for late onset diseases, cancer and polygenic conditions, ethical consideration and future directions in the field. The document includes PGT-M workflow charts for various inheritance patterns.

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.