Landmark discovery: BHU detects 47 rare childhood genetic disorders
Varanasi, June 16: The research team from the Center for Genetic Disorders at Banaras Hindu University (BHU) has achieved a significant milestone by identifying 47 rare genetic disorders in children. Most of these diseases are neurological disorders, while others include neuromuscular, ophthalmic, skeletal, and cardiac disorders.
Under the “Mission Program on Pediatric Rare Disorders,” led by Professor Parimal Das, more than 300 children suffering from rare genetic diseases from Varanasi and surrounding districts were registered. During the study, 47 rare genetic disorders were confirmed, and genetic test reports were provided to 47 patients. Ten new gene variants were also discovered during the research.
This project is part of a pan-India research program supported by the Department of Biotechnology (DBT), Ministry of Science and Technology, Government of India. Prof Parimal Das shared this information on Tuesday.
He explained that families involved in the project were provided free genetic testing, counseling, and expert medical advice after diagnosis. Additionally, many families received specialized counseling to address the social, cultural, and emotional challenges associated with genetic disorders.
He explained that the research program has also prioritized community awareness. Since 2023, five awareness programs on rare genetic diseases have been organized in Varanasi and surrounding areas. These programs aimed to raise public awareness about genetic disorders and dispel misconceptions. Additionally, more than 100 physicians, resident doctors, and nursing staff have received specialized training. Researchers Dr Ritu Dixit and Ms Deepika Maru have been actively involved in patient registration, genetic counseling, genetic data analysis, and public awareness campaigns since 2024.
Dr Ashok Kumar, co-principal investigator of the project, said that confirming the genetic cause of a rare disease alleviates parents’ uncertainty and provides them with information about the true cause of the disease. Without a correct diagnosis, families often have to visit multiple doctors, resulting in wasted time and money. He added that accurate genetic diagnosis also helps inform future family planning and pregnancy decisions.
According to Dr Ashok Kumar, this project is providing important data on the genetic causes of rare childhood diseases, which will help policymakers develop effective strategies for the prevention and management of genetic disorders at the community level.
Researchers believe this initiative is an important step toward expanding access to genomic medicine in underserved areas of the country. It also has the potential to reshape the diagnosis and treatment of rare diseases in India.
