Hyderabad: Scientists from the Centre for DNA Fingerprinting and Diagnostics (CDFD) have revealed alarming statistics on the prevalence of rare diseases.
Speaking at the Science Journalism Conclave held at CDFD, Director Ullas Kolthur said, "One in every 20 people in India is suffering from a rare disease. This means an estimated 7.2 crore people in the country are affected."
Impact on Child Mortality
Kolthur emphasized the dire consequences of rare diseases, stating, "50 percent of children dying under the age of one worldwide suffered from rare diseases." This highlights the critical need for early diagnosis and targeted interventions to address the issue.
Rare Disease Landscape in India
Over 7,000 rare diseases have been identified globally. The Indian Council of Medical Research (ICMR) National Registry has cataloged 4,001 such diseases.
Government Initiatives
Dr Ashwin Dalal, Principal Investigator at CDFD, highlighted the Central government’s efforts to combat genetic diseases. "Two years ago, the Central government launched a mission to identify genetic diseases in children. Research centers related to this mission have been set up at NIMS and CDFD in Telangana," he explained.
CDFD’s Role
CDFD is not only at the forefront of solving complex criminal cases through DNA analysis but is also conducting genetic tests to diagnose rare diseases. These efforts aim to provide timely identification and better treatment options for affected individuals. The conclave emphasized the importance of scientific advancements and collaborative efforts to tackle the burden of rare diseases in the country.
The findings at the conclave will help improve disease management, offer prenatal diagnosis, and support families. The study will also explore how new gene variants affect patients by testing them in model organisms, such as fruit flies, zebrafish, and mice. Earlier, CDFD had launched an outreach initiative ‘Gyandeep’, aimed at producing DNA scientists from Kendriya Vidyalayas. The initiative was launched by CDFD in collaboration with GENETIKS4U, an outreach project funded by India Biosciences and KV Sangathan, Hyderabad.
