CNN Central News & Network–ITDC India Epress/ITDC News Bhopal: The 7th International Conference on Birth Defects (ICBD 2026), held in Pune served as a monumental gathering of national and level genetics experts dedicated to the theme of integrative healthcare and the prevention of congenital anomalies.
Hosted by the Department of Paediatrics at Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pimpri, Pune in association with the South Asia Genomic Healthcare Alliance and the Genomic Medicine Foundation UK, the event was meticulously orchestrated by a visionary organizing team including Organizing Chairperson Dr. Shailaja Mane, Dr. Pramila Menon, Dr. Parag M Tamhankar, Dr. Sneha Sagarkar and Dr. Aradhana Dwivedi. The conference was made possible through the steadfast leadership of Hon’ble Chancellor Dr. P. D. Patil, Hon’ble Pro-Chancellor Dr. Bhagyashree P. Patil, Hon’ble Trustee and Treasurer Dr. Yashraj P. Patil and Dean Dr. Rekha Arcot, who emphasized the necessity of bridging the gap between high-end genomic research and bedside clinical care.
The Workshop on Applied Clinical Genomics: Hands-on Analysis of Exome Sequencing Data and Reporting integrated advanced genomic medicine with public health priorities, closely aligning with UNICEF’s mandate to reduce preventable birth defects, improve early diagnosis and strengthen maternal and child health systems. Dr. Parag Tamhankar (Consultant Geneticist), Prof. Shiji Chalipat (Paediatric Neurology), Dr. Supriya Gupte (Paediatric Endocrinology) and Sarita Varma (Paediatric Haematologist) contributed to case discussions, while Dr. Dipti Deshpande of Semantic Webtech analysed the exomic data.
The workshop trained clinicians, paediatricians and researchers in Human Phenotype Ontology (HPO) usage, variant interpretation and reporting, trio exome analysis and management of uncertain genomic findings, strengthening sustainable genomic expertise within India’s healthcare system and supporting equitable access to advanced diagnostics.
A dedicated UNICEF Public Forum on Birth Defects and panel discussion brought together senior clinical geneticists, public health experts and UNICEF representatives to bridge the gap between genomic science and community-level implementation. Simin Irani UNICEF Consultant explained the importance of maternal nutrition.
Dr. Pramila Menon sensitized the community health workers about detection of birth defects and preventive strategies. Dr. Gopal Kadam shared his experience about management of birth defects in Hingoli district of Maharashtra. The panellists included Dr. H.H. Chavan, Medical Superintendent of Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pimpri, Pune; Dr. Shailaja Mane; Dr. Varsha Dange; Mrs. Manisha Biraris CDPO PCMC Pune and Dr. Dhavendra Kumar, Genomic Medicine Foundation UK. He appreciated the progress of Maharashtra for diagnosing and treatment of birth defects. The session was in alignment with UNICEF Priorities for prevention of birth defects.
Across three days, scientific discourse was enriched by Professor Dr. Dhavendra Kumar from Genomic Foundation, UK, who examined inherited factors in congenital heart disease and Professor Mieke van Haelst, who presented groundbreaking work on genetic obesity and DNA methylation episignatures as diagnostic biomarkers for Fetal Alcohol Syndrome. Professor Diana Baralle from University of Southampton and Professor Emma Baple from University of Exeter highlighted advances in genomic and multi-omic diagnostics aimed at ending the “diagnostic odyssey” for families.
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