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Volume 15 | Issue 4 | October - December 2022

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GeNeDit
October - December 2022\| Vol 15 \| Issue 4 \| Page No 01
Gene Therapy and More: Options for Treatment of Hemophilia
The long-awaited option of gene therapies for monogenic disorders has become a reality. This is exciting for medical geneticists who have been closely following the ups and downs in this area of research. Some clinicians in India have had an opportunity to treat patients of spinal muscular atrophy (SMA) with...

PhotoQuiz-58
October - December 2022\| Vol 15 \| Issue 4 \| Cover Page
This 5-years-old child presented with global developmental delay and limb reduction defects. He had prenatal and postnatal growth restriction... Dr Gayatri Nerakh

Clinical Vignette
October - December 2022\| Vol 15 \| Issue 4 \| Page No 02
First Report of Bainbridge-Ropers Syndrome in an Indian Individual
Bainbridge-Ropers syndrome (BRS; OMIM #615485), a rare syndromic entity is caused by heterozygous de novo pathogenic variants in the ASXL3 gene (Additional sex-combs like 3). First described by Bainbridge et al, fewer than 50 cases have been reported so far worldwide, and none from India. The clinical feature...... Shreya Chauhan1, Veronica Arora2, Samarth Kulshrestha2, Praveen Suman3, Imran Mushtaq3, Praveen Kumar4

Clinical Vignette
October - December 2022\| Vol 15 \| Issue 4 \| Page No 05
A Novel Splice Site Loss Variant in SLC2A1 Causing Autosomal Dominant Infantile Onset GLUT1 Deficiency Syndrome 1
Glucose transporter type 1 (GLUT1) deficiency is a treatable neurometabolic disorder caused due to defect in the facilitative glucose transporter, GLUT1, present in the brain. Variants in SLC2A1 are known to result in GLUT1 deficiency syndrome. We report a 6-year-old male who presented with global development...... Tanya Golani1, Veronica Arora1, Praveen Suman2, Imran Mushtaq2, Salil Bhargava3, Praveen Kumar4

GeNeViSTA
October - December 2022\| Vol 15 \| Issue 4 \| Page No 08
Therapeutic Approaches for Treatment of Genetic Disorders: Tradition Leading to Evolution
With more than 10,000 genetic disorders reported to date, the treatment offered to patients in the clinics is very limited. To develop a safe and efficacious treatment, it is important to understand the underlying pathophysiology and genetic etiology of the disease. This review aims to describe some available...... Tanya Golani, RatnaDua Puri

GeNeXprESS
October - December 2022\| Vol 15 \| Issue 4 \| Page No 25
Gene therapy: An Addition to the Novel Therapies for Hemophilia
Valoctocogene roxaparvovec (AAV5-hFVIII-SQ) is an adeno-associated virus (AAV5) vector-based gene-therapy that expresses a B-domain–deleted human factor VIII coding sequence from a hepatocyte-selective promoter. After 5 years follow up showing effectiveness in phase 1 and 2 studies, it was evaluated in an... Anupam Sisodia

GenEvent
October - December 2022\| Vol 15 \| Issue 4 \| Page No 27
Genetic Update 2022: CME on Pediatric Genetics at Coimbatore, Tamil Nadu
The Department of Medical Genetics, KMCH hospitals, Coimbatore, along with the Society for Indian Academy of Medical Genetics (SIAMG) and the Indian Academy of Pediatrics- Coimbatore chapter, conducted a CME on Pediatric Genetics at KMCH on 31st July 2022...

Announcements
Announcements
1. 7th Annual Conference of Society for Indian Academy of Medical Genetics 2. SIAMG- Genzyme Fellowship Program in Clinical Genetics 3. SIAMG- Genzyme Fellowship Program in Prenatal Genetics

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