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Volume 13 | Issue 3 | July to September 2020

ISSN : 2454-8774
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July to September 2020 | Vol 13 | Issue 3 | 01
Hope in the Time of the Pandemic
‘It was the best of times, it was the worst of times; it was the spring of hope, it was the winter of despair’. This opening phrase from ‘The Tale of Two Cities’ by Charles Dickens comes to mind, as we reflect on the sequence of events that have been unfolding across the world over the past few months...

Dr Prajnya Ranganath
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Clinical Vignette

July to September 2020 | Vol 13 | Issue 3 | 02-05
Congenital Erythropoietic Porphyria: A Case Report and Approach to Cutaneous Porphyrias
Porphyrias are inherited disorders of the heme biosynthetic pathway characterized by overproduction of precursor metabolites preceding the defective step. Congenital erythropoietic porphyria (CEP) is a rare cutaneous porphyria presenting in childhood. We describe here a child with the classical clinical prese...

Sapna Sandal, Ratna Dua Puri
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July to September 2020 | Vol 13 | Issue 3 | 06-12
Genetics of Diabetes Mellitus
Diabetes mellitus is a chronic metabolic disease with a rising trend of cases globally. While majority are polygenic in origin, monogenic forms account for 1-5 % of cases. Increased recognition of monogenic types is the outcome of a wider availability of molecular tests. With recent studies showing misdiagnos...

Haseena Sait, Shubha R Phadke
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July to September 2020 | Vol 13 | Issue 3 | 13-26
Microdeletion and Microduplication Syndromes: An Update
Microdeletion and microduplication syndromes (MMS) also known as ‘contiguous gene syndromes’ are a group of disorders caused by sub-microscopic chromosomal deletions or duplications. Most of these conditions are typically associated with developmental delay, autism, multiple congenital anomalies, and char...

Priya Ranganath, Prajnya Ranganath
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July to September 2020 | Vol 13 | Issue 3 | 27-28
Promising New Therapies for Genetic Disorders: Hope for a Brighter Future
Huntingtin (HTT)-lowering approaches with various genetic engineering techniques like genome editing, transcript targeting and protein targeting are current areas of research providing hope for a cure for Huntington disease (HD). A phase III clinical drug trial by Tabrizi et al. based on an allele-unspecific ...

Neelam Saini, Prajnya Ranganath
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July to September 2020 | Vol 13 | Issue 3 | 29-30
COVID 19 Times: Experiences and Learnings
The COVID19 pandemic has led to an unprecedented situation world-wide. Not only has it put people under lock-down, all businesses have come to a grinding halt leading to significant economic losses. It has claimed more than 400,000 lives and has infected as many as 7 million people worldwide...

Chaitanya A Datar
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July to September 2020 | Vol 13 | Issue 3 | 30
This 30 years-old man presented with recurrent epistaxis and hemoptysis. Identify the condition...

Dr Shubha R Phadke
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1. Workflow for diagnostic testing of COVID 19
2. Genomic organization of SARS-COV-2 virus
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1. SIAMG-Genzyme Fellowship Program in Clinical Genetics
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