INDIAN ACADEMY OF MEDICAL GENETICS

GeNeDit

January - March 2023 | Vol 16 | Issue 1 | Page No 01

Humanitarian Program for Gaucher Disease and Other Lysosomal Storage Disorders

Lysosomal storage disorders (LSDs) comprise more than 50 diseases, each of which is individually rare, although collectively their prevalence is 1 in 5000 people (Verma et al., 2022). Majority of them occur due to mutations in specific enzymes that degrade the respective substrate that enters the lysosome through autophagy (van der Ploeg, 2022).

Professor I C Verma...

PhotoQuiz-59

January - March 2023 | Vol 16 | Issue 1 | Cover Page

This infant was referred for evaluation of developmental delay and seizures. Significant improvement in symptoms...

Dr Prajnya Ranganath

Clinical Vignette

January - March 2023 | Vol 16 | Issue 1 | Page No 04

Early Onset Marfan Syndrome in a Neonate with a Novel Pathogenic Variant in the Non-Hotspot Region of the FBN1 Gene

Early onset Marfan syndrome (eoMFS) is a rare form of classic Marfan syndrome. It is distinct from the classic Marfan syndrome in severity. The present case report is of a neonate with increased length, facial dysmorphism and arachnodactyly without any joint contractures. On transthoracic echocardiography (TTE)...

Gayatri Nerakh1, Bhargavi Dhulipudi2, Sai Kiran Deshabhotla3

Clinical Vignette

January - March 2023 | Vol 16 | Issue 1 | Page No 07

Novel Findings in a Fetus with 4p Deletion Syndrome: Case Report and Review of Literature

The 4p deletion syndrome, also known as Wolf -Hirschhorn Syndrome (WHS), is caused by partial deletion of the short arm of chromosome 4. The syndrome is well known and extensively described in the pediatric age groups and young adults and about 83 prenatal cases have been described to...

Ashok Khurana1, Komal Uppal2, Gaurika Sahi3, Lena Gupta3, Seema Thakur4

GeNeViSTA

January - March 2023 | Vol 16 | Issue 1 | Page No 12

Genetic Counselling and its Challenges in Leber Hereditary Optic Neuropathy: Two Illustrative Clinical Scenarios from India

Leber hereditary optic neuropathy (LHON) is a genetic disorder caused due to variations in the mitochondrial genome. Individuals with this condition present in the second/third decade with progressive central painless vision loss. Common pathogenic variants, m.3460G>A in MT-ND1, and m.11778G>A, and m.14484T>C in MT-ND6, are ...

Aashita Takkar, Veronica Arora, Swasti Pal, Ratna Dua Puri

GeNeXprESS

January - March 2023 | Vol 16 | Issue 1 | Page No 16

Lysosomal Storage Disorders: New Therapies in the Horizon

This phase 1/2 clinical trial studied the effects of a chemically modified (glycan modification) variant of recombinant human sulfamidase (SOBI003), which was previously shown to cross the blood-brain barrier (BBB) and achieve good CSF levels in mice. The study evaluated the safety, efficacy, pharmacodynamics, and pharmacokinetics...

Roopadarshini Balan

GenEvent

January - March 2023 | Vol 16 | Issue 1 | Page No 17

After 2 years of online meetings and webinars, the 7th Annual conference of SIAMG -SIAMGCON 2022 - organised in Lucknow, was a sweet reminder of the privilege and joy of meeting and collaborating with colleagues that we had previously taken for...

GeneTOP

January - March 2023 | Vol 16 | Issue 1 | Back cover

Medical genetics is playing an increasingly important role in the diagnosis and treatment of a number of diseases / disorders. Keeping in mind the rapidly increasing knowledge in the field as well as its growing importance for medical practitioners as well as students, the Society for Indian Academy of...

Book Review

This book written by physicians at the Baylor College of Medicine, who have been running an adult genetic clinic for many years, fills a void. It is written keeping in mind usefulness in practice and has four sections – the first provides information on basic genetics, genetic testing, and counseling, the second...

Announcements

Announcements

1. MPAICON 2023

2. SIAMG- Genzyme Fellowship Program in Clinical Genetics