Around 45 leading paediatric consultants and specialists participate at the medical session
MedGenome recently organised a continuous medical education session in association with the Institute of Child Health (ICH) Kolkata, which has the distinction of being the first paediatric institute of India. This event was attended by 45 of the city’s leading consultants and specialists from the field of paediatrics.
The topic of the event was ‘Paediatric Nephrology: Some real life case scenarios’. Dr Rajib Sinha, a leading paediatric nephrologists based in Kolkata said, “The completion of the Human Genome Project (HGP) in 2003 has laid the foundation and driven the technological advancements necessary for the study of the genetics of complex, multifactorial diseases, such as those affecting the kidney. The International HapMap Project has built upon the HGP through the systematic identification and cataloging of genetic variation across human populations. Translating the mass of data generated by these studies into useful clinical knowledge is now a major undertaking in nearly all areas of medicine, including the field of paediatric nephrology.”
He also presented case studies which involved the use of the MedGenome Clinical Exome Panel for screening patients with Nephrotic Sundrome and Alport Syndrome. NGS testing helped his patient in getting the right pathophysiology of diseases.
The MedGenome Scientific Affairs team also discussed the clinical significance of genetic screening in inherited disorders. The use of various techniques like MLPA, Sanger Sequencing and Next Generation Sequencing were detailed judiciously as every technique has certain limitations and advantages. The team also emphasised on MedGenome’s strength in bioinformatics which is the foremost prerequisite of a genetic testing lab.
EH News Bureau
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