INDIAN ACADEMY OF MEDICAL GENETICS

GeNeDit

October to December 2020| Vol 13 | Issue 4 | Page No 01-02

Privilege to be a Clinician for Six Thousand Genetic Disorders!

Yes, you got it right; I am talking about a clinical geneticist who cares for rare disorders. We are just on the verge of a new paradigm in the treatment of genetic disorders. Success of gene therapy trials is what the first-generation clinical geneticists were dreaming of.

Dr Shubha Phadke

Clinical Vignette

October to December 2020| Vol 13 | Issue 4 | Page No 03-06

Ghosal Hematodiaphyseal Dysplasia: An Unusual but Easy-to-Diagnose Genetic Cause of Anemia

Ghosal hematodiaphyseal dysplasia (GHDD) also known as Ghosal syndrome (OMIM# 231095) is a rare autosomal recessive disorder associated with skeletal changes in the form of increased bone density and predominant diaphyseal involvement, and hypoplastic anemia (Ghosal et al., 1988)...

Amrita Bhattacherjee1, Ashwin B Dalal1, Prajnya Ranganath1,2,*

GeNeViSTA

October to December 2020| Vol 13 | Issue 4 | Page No 07-15

A Case Series of Double Segment Imbalances: Delineation of Phenotypes and Comparison with Phenotypes of Isolated Copy Number Variations

This study undertaken at a tertiary hospital documents the phenotypes of patients with double segment chromosomal imbalances (DSI) and compares the phenotypes with those of the isolated copy number variations (CNV) of the concerned regions.

Anup Rawool, Mayank Nilay, Deepti Saxena, Priyanka Srivastava, Amita Moirangthem, Kausik Mandal, Shu

GeNeViSTA

October to December 2020| Vol 13 | Issue 4 | Page No 16-19

Silver-Russell Syndrome: Case Report and Insights for Prenatal Diagnosis

Silver–Russell syndrome (SRS), OMIM #180860, is characterised by prenatal and postnatal growth retardation. The syndrome was initially described in a group of children with low birth weight, atypical facies,

Seema Thakur1*, Preeti Palliwal2, Arpana Jain1, Tanu Gera1, Sunita Kapoor3, Deepa Khurana3

GeNeXprESS

October to December 2020| Vol 13 | Issue 4 | Page No 20-21

Gene Therapies for Genetic disorders

RPE65-associated LCA is an inherited retinal degeneration. In 2017, the US Food and Drug Administration (FDA) approved the first directly administered gene therapy that targets RPE65, voretigeneneparvovec-rzyl

Neha Agrawal

GeNeMail

October to December 2020| Vol 13 | Issue 4 | Page No 22-23

Letter to the Editor

Dear Editor, The McKusick short course is one of the most sought-after platforms for a peek into the exciting world of genetics. It is a two weeks long annual programme,

Veronica Arora, Sudisha Dubey, Ratna Dua Puri

PhotoQuiz

October to December 2020| Vol 13 | Issue 4 | Page No 25

Answer to PhotoQuiz 49...

Dr Shubha R Phadke