19/08/2026
Special Supplement on “Evolution of Genetics in India and Its Future Prospects”
Guest Editors: Dr. Madhulika Kabra and Dr. Ratna Dua Puri
Contents
Editorial
Honoring the Legacy of Professor I.C. Verma: Shaping Minds, Empowering Generations
Ratna Dua Puri and Madhulika Kabra
Page: S1
Original Articles
Prenatal Diagnosis and Genomics in India – Historical Review, Current Status and Road Ahead
Shagun Aggarwal and Shubha R Phadke
Page: S4
Experience of Prenatal Diagnosis for β-Thalassemia and Major Hemoglobinopathies in the Last Decade from Seven Tertiary-Care Referral Centers in India
Reena Das, Anita Nadkarni, Sudha Kohli, Prashant Sharma, Amita Singh, Deepti Saxena, Shagun Aggarwal, Eunice Sindhuvi Edison, Pratibha Sawant, Renu Saxena, Sadhna Arora, Jasbir Kaur Hira, Angalena Ramachandran, Elizabeth Thomas, Neerja Gupta,
Manisha Madhai Beck, Pallavi Thakar, Rashmi Bagga, Aparna Sharma, Sudhisha Dubey, Manju Goriwale, Madhumita Roy Chowdhury, Sanjay Joshi, Ashish Chiddarwar,
Subhas Chandra Saha, Varsala Dhadwal, Manisha Sharma, Ashwin Dalal, Shilpa Rani, Sanjeev Chhabra, Ramachandran V Shaji, Kausik Mandal, Sunita Bijarnia-Mahay, Prabhakar S. Kedar, Deepika Deka, Shubha Phadke, Roshan Colah, Madhulika Kabra
and Ratna Dua Puri
Page: S13
Molecular Landscape of Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency in India
Sudhisha Dubey, Renu Saxena, Sudha Kohli, Hansraj Jaswal, Asha Rawat, Kuldeep Singh, Sunita Bijarnia-Mahay, Veronica Arora, Anurupa Maitra, Chinnaraj Saravana, Sudha Rao Chandrashekhar, Madhumita Roy Chowdhury, Neerja Gupta, Vandana Jain,
Madhulika Kabra and Ratna Dua Puri
Page: S20
Perspective
Inherited Metabolic Disorders in India: Progress and Priorities
Neerja Gupta and Seema Kapoor
Page: S28
Original Articles
Organic Acidemias in India: Clinical and Molecular Spectrum
Sunita Bijarnia-Mahay, Deepti Gupta, Ratna D. Puri, Renu Saxena, Sudha Kohli, Jyotsna Verma, Divya C. Thomas, Papai Roy, Veronica Arora, Swasti Pal, Praveen Kumar, R. K. Sabharwal, Sudhisha Dubey, Sujatha Jagadeesh, Chaitanya Datar, Radha Rama Devi Akella and I. C. Verma
Page: S30
Long-Term Outcomes of Enzyme Replacement Therapy in Indian Patients with Gaucher Disease – A Multicentric Study
Neerja Gupta, Devi Saranya S, Shashank Koundinya, Meenakshi Bhatt, Mamta Muranjan, Amita Moirangthem, Sujatha Jagdeesh, Aabha Nagral, Inusha Panigrahi, Amit Kumar Gupta, Ratna Dua Puri, Suchandra Mukherjee, Bhavna Dhingra, Prajnya Ranganath, Sanjeeva GN, Sonu Antony, Shubha Phadke, Kausik Mandal,
Seema Kapoor, Sheela Nampoothiri, Sunita Bijarnia-Mahay, Pallavi Mishra, Pooja Motwani, Jyotsna Verma, Parminder Kaur, R. M. Pandey and Madhulika Kabra
Page: S38
Impact of Enzyme Replacement Therapy on Patients with Late Onset Pompe Disease – Real World Data from a Developing Country
Swasti Pal, Sunita Bijarnia-Mahay, Sheela Nampoothiri, Mamta Muranjan, Neerja Gupta, Sankar VH, Sujatha Jagadeesh, Meenakshi Bhat, Sanjeeva GN, Dhanya Yesodharan, Prerana Modani, Madhulika Kabra, Priya S. Kishnani and Ratna Dua Puri
Page: S48
Tribute
Honoring Padma Shri Professor I.C. Verma – A Tribute from the Indian Medical Advisory Board (IMAB)
Pramod K. Mistry
Page: S56
Perspective
Navigating Genetic Testing for India
Shubha R. Phadke
Page: S58
Commentary
Towards Rational Genomic Testing: Position Statements from Indian Academy of Medical Genetics
Neerja Gupta
Page: S61
Position Statement
Position Statement of the Indian Academy of Medical Genetics on Cytogenetic and Molecular Cytogenetic Testing
Prajnya Ranganath, Sankar VH, Kausik Mandal, Meenal Agarwal,
Priya Ranganath, Devi Saranya S and Veronica Arora
Page: S63
Position Statement of the Indian Academy of Medical Genetics on Next Generation Sequencing-Based Testing for Rare Genetic Disorders
Anju Shukla, Sameer Bhatia, Mounika Endrakanti, Deepti Gupta,
Amita Moirangthem and Prajnya Ranganath
Page: S74
Review Articles
Status of Clinical Care of Duchenne Muscular Dystrophy: Global Perspective and Situation in India
Aradhana Rohil, Gautam Kamila and Sheffali Gulati
Page: S81
Approach to Disorders of S*x Development in the Genomic Era
Sukanya Priyadarshini, Rajni Sharma and P. S. N. Menon
Page: S91
Continuum of Care for Hemophilia: The Story of India
Shubha R. Phadke
Page: S100
Solid Organ Transplantation in Inborn Errors of Metabolism: An Organ-Based, Practice-Oriented Review
Janmeeta Singh, Amit Kumar Gupta and Seema Kapoor
Page: S105
Perspective – The Role of Peripheral Outreach Programs for Genetic Disorders for Optimizing Healthcare
Kuldeep Singh, Amit Kumar Mittal, Tanuja Rajial, Varuna Vyas,
Pradeep Dwivedi, Dolat Singh Shekhawat, Pratibha Singh and Siyaram Didel
Page: S112
Quality Issues in Medical Genetics Laboratories: “What a Clinician Needs to Know?”
Usha R Dutta, Rashmi Shukla, Jyotsna Verma and Ashwin Dalal
Page: S122
Case Vignette
Primary Carnitine Deficiency: A Stitch in Time Saves Nine
Devi Saranya S, Soumalya Chakraborty, Madhulika Kabra and Neerja Gupta
Page: S131
Transient Infantile Liver Failure due to TRMU Deficiency: The Role of Rapid Exome Sequencing
Muhammed Shabeer P, Sunita Bijarnia-Mahay, Jaswinder Kaur and Nishant Wadhwa
Page: S134
Clinical and Genetic Characterization of Patients with ADNP Related Helsmoortel-Van der Aa Syndrome
Pragya Kafley, Deepti Saxena and Amita Moirangthem
Page: S137
Alexander Disease Due to a Homozygous GFAP Variant
Sahithi Rathod, Roopadarshini Balan, K Sravya and Prajnya Ranganath
Page: S140
Expanding the Phenotypic Spectrum of Syndromic Arthrogryposis Multiplex Congenita: Role of Biallelic Variants in COL25A1 Across Fetal and Pediatric Periods
Gayatri Nerakh, Anjana Kar, Sahithi Rathod, Pratima Pal, Joel Kiran George, Aneek Das Bhowmik, Karthik Bharadwaj Tallapaka and Ashwin Dalal
Page: S142
Gonadal Yolk Sac Tumor in a Child with Complete Androgen Insensitivity Syndrome
Mridna Jha, Manas Kalra, Satish Kumar Aggarwal, Archana Dayal Arya, Ratna Dua Puri and Anupam Sachdeva
Page: S145
Publisher Correction
Correction to: Position Statement of the Indian Academy of Medical Genetics on Next Generation Sequencing-Based Testing for Rare Genetic Disorders
Anju Shukla, Sameer Bhatia, Mounika Endrakanti, Deepti Gupta,
Amita Moirangthem and Prajnya Ranganath
