Doctors sensitised on rare genetic disorders at SVMC

Tirupati: Withr are diseases often going undiagnosed due to lack of awareness, the Department of Paediatrics at Sri Venkateswara Medical College (SVMC) conducted a regional sensitisation workshop on Tuesday to educate doctors and health administrators on timely identification and management of genetic disorders.

The initiative aimed to increase awareness among clinicians, postgraduate students and healthcare administrators regarding early diagnosis, treatment options and available support systems for patients affected by rare genetic diseases.

Explaining about the initiative, Head of the Paediatrics Department Dr B Manohar told The Hans India that the National Rare Disease Policy 2021 provides a structured framework for the diagnosis and treatment of rare diseases in India. He noted that the policy emphasises the creation of a digital national registry and improved access to advanced diagnostic facilities across the country.

He said that a key feature of the policy is financial assistance of up to Rs 50 lakh per patient for diseases eligible for one-time curative therapies.

These include certain enzyme replacement treatments, hematopoietic stem cell transplantation for immunodeficiency and metabolic disorders, and other specialised therapies for selected conditions.

The workshop featured lectures and case-based discussions by eminent clinical geneticists and paediatric specialists.

Experts discussed the fundamentals of human genetics, patterns of inheritance, diagnostic workflows for suspected genetic disorders and available genetic testing strategies, including chromosomal microarray and next-generation sequencing.

Dr Manohar said the workshop represented an important step towards strengthening rare disease care by promoting multidisciplinary collaboration among clinicians, geneticists and policy implementers. Such efforts, he added, would help improve access to timely genetic diagnosis and appropriate therapy for affected children and their families. Principal of SV Medical College Dr G Ravi Prabhu, Sri Venkateswara Ramnarain Ruia Government General Hospital Superintendent Dr J Radha and Government Maternity Hospital Superintendent Dr Prameela Devi addressed the inaugural session.

Along with Dr Manohar, Dr Anjan Kumar served as coordinator of the workshop. Resource persons Dr Aswin Dalal, Dr Shagun Agarwal, Dr Pragna Ranganath and Rupa Darsini Balan shared their expertise on advances in genetic diagnosis and rare disease management.