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Volume 17 | Issue 2 | April - June 2024

ISSN : 2454-8774

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GeNeDit
April - June 2024 \| Vol 17 \| Issue 2 \| 01
Advanced Approaches for Rare Diseases
Throughout history, humanity has grappled with various diseases, each presenting unique challenges. As medical advancements continue to evolve, our focus shifts accordingly. Thanks to breakthroughs in vaccines and antibiotics, we have triumphed over several infectious diseases and continue to combat others. C... Dr Ashwin Dalal

PhotoQuiz
April - June 2024 \| Vol 17 \| Issue 2 \| Coverpage
This child was referred for evaluation of global developmental delay and a chronic skin disorder. Abnormalities noted in the MRI brain images (T2-weighted coronal and sagittal sections) are highlighted with arrows. Identify the condition.... Dr Sunita Bijarnia-Mahay

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Clinical Vignette
April - June 2024 \| Vol 17 \| Issue 2 \| 02-04
Superoxide Dismutase Deficiency due to Biallelic SOD1 Variants
Gain-of-function mutations in superoxide dismutase 1 (SOD1) are typically associated with familial Amyotrophic lateral sclerosis (ALS). Recently a distinct neurodegenerative disorder has been described, occurring due to biallelic loss of function in SOD1, manifesting as spastic tetraplegia with axial hypotoni... Pallavi Sinha1, Sunita Bijarnia-Mahay1, Hemlata Wadhwani Bhatia2, Saurabh Chopra3

Clinical Vignette
April - June 2024 \| Vol 17 \| Issue 2 \| 05-07
Midgut Volvulus in Trisomy 21: Unveiled on Fetal Autopsy
Midgut volvulus is a rare developmental anomaly with a largely unknown etiology that is challenging to diagnose antenatally in the second trimester. The objective of this case report is to describe a rare case of midgut volvulus associated with trisomy 21. Amniocentesis was done in a 19-week fetus with severe... Somya Srivastava, Shubha R Phadke

Clinical Vignette
April - June 2024 \| Vol 17 \| Issue 2 \| 08-09
Tyrosine Hydroxylase Deficiency: Report of a Novel Phenotype
Dopamine-responsive dystonia is a rare disorder. The clinical diagnosis is usually made based on the response to levodopa. It is a conglomerate of three enzymatic deficiencies: guanosine triphosphate cyclohydrolase 1, sepiapterin reductase and tyrosine hydroxylase. All of these have some classical presentatio... Sunil Taneja

GeNeXprESS
April - June 2024 \| Vol 17 \| Issue 2 \| 10-11 High Throughput Functional Assay Platforms to Screen Multiple Variants Technological advances have led to the development of high-throughput sequencing platforms enabling human genome sequencing to be used in clinical practice. Several... Ch Neeraja, Ashwin Dalal

HearToHearTalk
April - June 2024 \| Vol 17 \| Issue 2 \| 12-13 The Boon Becomes the Bane: The Ballad of the Blue-eyed Boy Beauty lies in the eyes of the beholder. However, beauty can also literally be due to a person's eyes, especially the eye colour. In South India... Remya Rajkumar, Sankar VH

Obituary
In Memory of Dr I C Verma

GeNeEvent
Rare Disease Day Related Events at Different Centres Across India National Symposium on Rare Diseases Down Syndrome Day Celebrations

Announcements
Twenty-First ICMR Course on Medical Genetics and Genetic Counseling

Published by : Society for Indian Academy of Medical Genetics
Address : Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow-226 014

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