DBT soon to begin research in the area of haemophilia

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Aiming to find ways to implement viable, practical and sustainable haemophilia care strategies in the country, the Department of Biotechnology (DBT) will soon begin research in the area of haemophilia which is an X-linked hereditary single gene bleeding disorder, leading to deficiency of coagulation factor VIII (FVIII) or factor IX (FIX). It  manifests as spontaneous or trauma-induced haemorrhagic episodes in patients, progressing to chronic disabilities like arthropathy & contractures and premature mortality in untreated patients or patients with sub-optimal treatment.

Priority areas for research include novel approaches to diagnosis of haemophilia; development of recombinant factors or novel therapies; development of new viral inactivation/removal technologies for plasma products; development of novel approaches to Immune Tolerance Induction therapy (ITI) to treat inhibitors that may develop during CFC replacement treatment of haemophilia; genetic evaluation of the full spectrum of hereditary bleeding disorders which are common in the country to help design a comprehensive cost effective diagnostic strategy (this could also be applied to evaluating genotype – phenotype correlations); and strategies for development of gene therapy approaches for haemophilia.

The DBT has now invited proposals from Investigators working in this area to submit an application for consideration with these research priorities. Scientists working in Universities/Academic Institutions/National Laboratories/Industries [Department of Scientific & Industrial Research (DSIR)-Recognized R&D Centre] & Non-Profit Organizations with necessary facilities and strong scientific background in the proposed area are eligible to participate in this research programme. Collaborative projects with industry would be favoured for funding.

The DBT’s initiative in this regard is significant as even though India has one of the largest numbers of patients with haemophilia (PWH) registered anywhere in the world, >80% of them are still undiagnosed because of lack of awareness and inadequate diagnostic facilities. When it comes to treatment, PWH still do not have adequate options or opportunities within the country. To Indian haemophiliacs, factor concentrates have become available through the public health care system mostly in the last 5 years. While this is a good development, much more needs to be done. The poor availability of diagnostic and treatment facilities along with the lack of awareness about haemophilia amongst primary care physicians and specialists is the major impediment for the management of haemophilia in our country.

The management of haemophilia in developed countries has proceeded through replacement therapy, prophylactic treatment and taking care of post-treatment complications viz. vulnerability to infections like HIV/HCV; development of allo-antibodies called inhibitors that neutralize the replacement proteins (clotting factors); osteoporosis; and recently identified malignancies specifically hepatocellular carcinoma (HCC) in HCV infected patients and non Hodgkin’s lymphoma in HIV infected patients.

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