Genetic Clinics
GeNeDit
April - June 2024 | Vol 17 | Issue 2 | Page No 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...
Dr Ashwin Dalal
PhotoQuiz-64
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
Clinical Vignette
April - June 2024 | Vol 17 | Issue 2 | Page No 02
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 hypotonia in childhood. Debate exists regarding its classification, as to whether it is a distinct disorder or a part of the ALS spectrum. ...
Pallavi Sinha1, Sunita Bijarnia-Mahay1, Hemlata Wadhwani Bhatia2, Saurabh Chopra3
Clinical Vignette
April - June 2024 | Vol 17 | Issue 2 | Page No 05
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 ventriculomegaly, hypoplastic cerebellum, echogenic bowel, and growth restriction to rule out chromosomal...
Somya Srivastava, Shubha R Phadke
Clinical Vignette
April - June 2024 | Vol 17 | Issue 2 | Page No 08
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 presentations and variability in the time of onset and severity, but dystonia and diurnal variation of symptoms...
Sunil Taneja
GeNeXprESS
April - June 2024 | Vol 17 | Issue 2 | Page No 10
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 genomic variants are being identified across individuals of diverse populations, using high-throughput...
Ch Neeraja, Ashwin Dalal
HearToHearTalk
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, the population generally has black-coloured irises and hence, a different hue, especially blue or green, is a matter of great pride and wonder...
Remya Rajkumar, Sankar VH
GeNeEvent
GeNeEvent
Rare Disease Day Related Events at Different Centres Across India National Symposium on Rare Diseases Down Syndrome Day Celebrations
Remya Rajkumar, Sankar VH
