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Volume 13 | Issue 1 | January to March 2020

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January to March 2020| Vol 13 | Issue 1 | Page No 01
Conference, society and coffee!
Let us begin the year 2020 by congratulating Dr Prajnya Ranganath, Dr Ashwin Dalal and their team for successfully conducting the 6th annual conference of the society. We are overwhelmed by the magnitude of the event, array of speakers and scientific deliberations. With nearly 300 participants
Dr. Girisha KM
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Clinical Vignette

January to March 2020| Vol 13 | Issue 1 | Page No 02-05
Melanocortin 4 Receptor (MC4R) Gene Associated Severe Obesity in an Indian Child: Report of Novel Variants
Monogenic obesity syndromes are a group of Mendelian diseases that cause childhood obesity and are linked to genes in the leptin- melanocortin pathway. Families with biallelic MC4R gene mutations are rare. We describe a seventeen-year-old girl with severe obesity, diabetes, hyperinsulinemia, hypercholesterole...

Dr Parag M Tamhankar
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January to March 2020| Vol 13 | Issue 1 | Page No 06-10
Antisense Oligonucleotides: Adding Sense to Therapeutic Medicine
Rapid progress in the field of molecular biology has led to the development of numerous genetic therapies. Among these, antisense oligonucleotide (ASO) therapeutics have recently gained momentum due to their application in the spectrum of disorders ranging from neurodegenerative disorders to malignancies. Thi...

A Haseena, Amita Moirangthem, Shubha R Phadke
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January to March 2020| Vol 13 | Issue 1 | Page No 11-12
Coffee with Genome: Emerging Paradigms in Personalised Medicine
French et al. performed trio Whole Genome Sequencing in a cohort of 195 intensively ill children in the neonatal and pediatric intensive care units. A genetic diagnosis was achieved in 21% children, and in 90% of the cases, phenotypic descriptor was a poor predictor of the gene identified. In 65% cases overal...

Shagun Aggarwal
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January to March 2020| Vol 13 | Issue 1 | Page No 17
This one-month old baby born to consanguineous parents, was brought with sticky purulent discharge from eyes, absence of body hair and regurgitation of milk [Figures A, B, C, D]. She was seventh in birth order with history suggestive of similar...

Dr Shubha R Phadke
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1. Sixth Annual National Conference of the Society for Indian Academy of Medical Genetics (SIAMGCON 2019) & Indo-US Symposium on Genetic Neuromuscular Disorders
2. UMMID: A Ray of Hope
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Gene focus

UK-India Genomic Medicine Alliance (UKIGMA) Indo-UK Genetic Education Forum
Since the sequencing of the human genome, prospects of precise genome level diagnosis and targeted specific therapeutic interventions have become possible. This approach is now practised all over and genomic applications in clinical medicine and healthcare are now increasingly implemented. This is globally acknowledged as one of the most powerful and pertinent development in the history of Medicine. The practice of medicine.
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1. Marfan syndrome and other aortopathies
2. SIAMG - Genzyme Fellowship Program in Clinical Genetics
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