Special Supplement on Genetics 2026

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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

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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

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