The 3rd National Symposium on Genetic Disorders: A Focus on Adult Genomics

The 3rd National Symposium on Genetic Disorders was held on 13 July 2024 and 14 July 2024 at the prestigious Army Hospital (Research and Referral), New Delhi, India. This landmark event brought together a diverse audience of geneticists, physicians and students to explore the emerging field of adult genomics. Themed ‘Adult Genomics: Expanding Horizons’, the symposium provided a platform to delve into the intricate genetics of adult-onset disorders, covering domains such as nephrogenetics, gastro-genetics, ocular genetics, neurogenetics, metabolic genetics and cardiogenetics. This event marked a pivotal step in advancing knowledge and collaborative efforts in the field of genetic medicine for adults [Figures 1 and 2].Figure 1: Inaugural sessionFigure 2: Lamp lighting ceremonyA BROAD FOCUS ON ADULT GENETIC DISORDERS The symposium recognised the increasing importance of understanding genetic contributions to adult-onset diseases. While paediatric genetics has long dominated the field, adult genomics is now gaining traction due to its critical implications in precision medicine. The symposium’s comprehensive approach underscored the need to study genetic underpinnings and integrate genomics into adult healthcare practices. HIGHLIGHTS OF THE SESSIONS Nephrogenetics A detailed exploration of the genetic bases of kidney disorders was presented, highlighting conditions such as Alport syndrome, polycystic kidney disease and other monogenic renal diseases. The discussions focused on diagnostic advancements, such as next-generation sequencing, and therapeutic approaches, including gene editing and targeted therapies. Gastro-genetics In gastroenterology, genetics plays a crucial role in understanding conditions such as hereditary pancreatitis, Lynch syndrome and celiac disease. The sessions emphasised the clinical utility of genetic screening in early detection and risk stratification, enabling personalised interventions. Ocular genetics Ocular disorders, including adult-onset glaucoma, retinitis pigmentosa and age-related macular degeneration, were discussed with an emphasis on genetic diagnostics and evolving therapeutic strategies, including gene and cell therapies. Neurogenetics This segment addressed the genetic basis of neurodegenerative diseases such as Parkinson’s, Alzheimer’s and Huntington’s disease. Advances in molecular diagnosis and the potential for gene silencing therapies were the key topics. Metabolic genetics The sessions on metabolic genetics highlighted the role of genetic mutations in adult-onset metabolic disorders such as mitochondrial diseases, porphyria and late-onset glycogen storage disorders. Discussions focused on novel therapeutic options, including enzyme replacement and substrate reduction therapies. Cardiogenetics Genetic contributions to conditions such as hypertrophic cardiomyopathy, long QT syndrome and familial hypercholesterolemia were discussed. Experts underscored the importance of genetic counselling and cascade screening to prevent cardiac events in at-risk individuals. Interdisciplinary collaboration A notable feature of the symposium was the strong emphasis on interdisciplinary collaboration. Geneticists collaborated with specialists from nephrology, gastroenterology, ophthalmology, neurology and cardiology, showcasing the integrative approach needed for effective management of adult genetic disorders. Engaging participation The symposium attracted a wide audience of geneticists, physicians and students, fostering a vibrant exchange of ideas. Case discussions, workshops and poster presentations provided an interactive platform for participants to learn and share insights. CONCLUSION The 3rd National Symposium on Genetic Disorders successfully highlighted the transformative role of adult genomics in healthcare. By covering a spectrum of adult genetic disorders and fostering interdisciplinary collaboration, the event laid the foundation for future advancements in the diagnosis, management and treatment of these conditions. As genomics continues to evolve, such platforms are instrumental in shaping the future of precision medicine. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.