Special Supplement on Genetics 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 Sex 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 Page: S147