Department of Biotechnology (DBT) – Centre for DNA Fingerprinting and Diagnostics (CDFD), in the forefront of the Mission Programme on Paediatric Rare Genetic Disorder (PRGeD), has so far recruited 1,493 patients from across the country in collaboration with 15 other organisations for genetic diagnosis, discovering new gene or variants, provide counselling and develop new therapies for rare genetic diseases.
“We plan to increase the number to 5,000 patients with at least 100 from each of the recognised centres in the country. From the 1,493 patients, we have identified 75 known pathogenic and 68 novel variants, which could be solved. Another 26 variants are under study,” said principal investigator Ashwin Dalal on Thursday.
The mission, initiated two years ago, has already considered 1,297 of the 1,493 sample recruits for ‘exome’ sequencing or towards studying gene variations that may cause the rare diseases and 196 for genome sequencing to determine the DNA/RNA sequences, he told a media conclave at the institute.
The outcome of the study, apart from identifying novel genes for various known and unknown diseases is also to help patient/families with disease management and pre-natal diagnosis. A database of the sequence variants would be maintained to help diagnostic labs, clinicians and researchers as part of the programmes, besides looking to develop novel therapeutics, affordable diagnostics and screening of genetic disorders, said Dr. Dalal.
The scientist explained that Indian population is distinctly different due to the religious and cultural practices like encouraging marriages among the community or endogamy. An estimated 72 million people are affected by rare diseases with genetic mutations in a single gene or multiple genes – inherited from parents or arising spontaneously.
Environmental factors like exposure to toxins, chemicals, or radiation too contribute to development of rare disorders yet the causes of approximately 50% of them remain unknown. ICMR-National Registry for Rare Diseases shows 4,001 identified rare diseases like haemophilia, thalassemia, sickle cell anaemia, and lysosomal storage disorder.
CDFD in association with research institutions has already started studying the functional characterisation of novel genes like ‘SERPINA11’, ‘AIMP2’, ‘SKT38L’, ‘OGFOD1’ and ‘PATJ’, by using organisms like drosophila, zebrafish and mice to understand gene mutations, and developmental delays, he said.
A dedicated website (www.praged.cdfd.org.in) has been developed for research coordination and sequencing data of 300 samples was submitted to the Indian Biological Data Centre (IBDC) with awareness sessions being conducted for medical officers, parents, and patients, across the country, added Dr. Dalal. Fellow scientists Shweta Tyagi and Rashna Bhandari shared glimpses of their research work. CDFD Director Ulhas Kolthur-Seetharam also spoke.
Published – January 02, 2025 07:09 pm IST
