Aayushi G.

I am currently working as a senior Genetic counsellor and associate manager of medical scientific affairs. we work for the families, and individuals to know for diagnosis, treatment, and management options with rare disease. During my work tenure, i have given presentations, posters and reported cases which are-on “Genetic Counselling: A tool to Spread Awareness” in 3rd Genomic and Genetic Counselling Conference by Genetic Counselling Society Malaysia (GCSM), Malaysia. Published Case Report on “A Case Report of Family with Pathogenic Variants in SIX6 and TTC8 Genes Indicating Bardet-Biedl syndrome 8” in Hong Kong Journal of Paediatrics Research. Published and presented abstract and poster on “CRISPR and Beyond: Perturbations at scale to understand at scale to understand genomes 2022” in Wellcome connecting science-Wellcome genome campus, Cambridge, UK. Published Case Report on “A Novel Familial Case Report of Genetic Syndrome Mimicking Congenital TORCH Infections; Pseudo-TORCH Syndrome 2” in Journal of Reproduction and Infertility. Published abstract on “Y-Chromosome microdeletion cause reduced fertility and genetic defects” in the international conference on reproductive healthcare of the Indian Society for the Study of Reproduction and Fertility 2022. Published abstract on “Early Onset Ataxia with Occulomotor Apraxia and Hypoalbuminemia” in International Conference on metabolic diseases SWASTHYACON 2022. Presented and Published abstract on “A Clinical And Genetic Association Of SCN4A Gene With Hypokalaemic Periodic Paralysis Type -2: A Case Report” in 9th Pan Arab Human Genetics Conference 2021. Published and Presented abstract on “Genetic Testing Reveals Novel Mutation in SIX6/TTC8 Gene causing Bardet-Biedl Syndrome-8: A Case Report” in World Congress on Genetic Counselling-Cambridge UK. Published Abstract on “A case report of vitamin D-dependent rickets type-1A with a novel mutation in CYP27B1 gene” in ISIEM 2021 Published and presented abstract on “Dominantly Inherited type of Wolfram Syndrome Type 1- A rare occurrence diagnosed by Whole Exome Sequencing in the 6thAnnual international Conference,BGCI (2021). Published and presented Abstract on “Ovarian Cancer: A report” in 3rd international conference on multidisciplinary research (2019). Presented an abstract on “Allergy breakthrough with gene therapy” in 9th International conference on IC-HESTTMSW in association with south Asia management association. Presented and published research article on “Polycystic ovarian diseases” in 3rd national conference sponsored by MPCST.