The Ministry of Science and Technology and the Department of Biotechnology (DBT) have recently launched the Mission Programme on Pediatric Rare Genetic Disorders (PRaGeD) to map rare genetic diseases among children.
The aim of the study is to investigate a total of 5,600 families over five years to identify the genetic cause of undiagnosed and rare paediatric genetic diseases. The Centre for DNA Fingerprinting and Diagnostics (CDFD) in Hyderabad is collaborating with the paediatrics departments of medical colleges, DBT-UMMID centers, and 15 centers across India to analyse samples from children with rare genetic disorders and their parents.
Finding novel genes for rare diseases
Talking to News18, Dr Ashwin Dalal, head of Diagnostics Division in CDFD, said: “There are 350 million patients of rare diseases in the world, 70 million of them are in India. 95 per cent of these diseases do not have a treatment. Our aim is to identify the genes causing these diseases and then develop ways to treat them.”
There are around 7,000 rare diseases like Down’s Syndrome, Spinal Muscular Atrophy, Thalassemia etc. The first step is to identify the gene/mutation that causes the disease. Humans have around 20,000 genes and so far, we only know what rare diseases 7,000 of them cause. The programme aims to study what diseases the remaining genes are causing. It will identify novel genes for rare diseases. Once they find the gene, they can develop diagnostic tools and treatment for it.
“Sixteen institutes across the country are collaborating for the project. These centres will recruit patients with these disorders. The patients will be tested to see if the disease is caused by the 7,000 genes already known to us. If not, the samples will be sent to us to perform high-level testing like exome sequencing, in which all the 20,000 genes will be sequenced.
“Over the next five years, over 5,000 such patients will be recruited who do not have any known gene mutation. The genome of their parents will also be sequenced, which means 15,000 sequencing will be done in this project. If we find any such gene, it will be further studied to develop therapies,” added Dr Dalal.
Endogamy and consanguinity
The tradition of endogamy and consanguineous marriages among various Indian communities is one of the major causes of rare diseases in India, leading to the high prevalence of disease-causing mutations.
“Endogamy and consanguinity, which are common in some populations in India, increase the chance of having rare diseases. Not all consanguineous couples will have abnormal children. However, it does increase the number of people with rare diseases in the population. Only a portion of rare diseases, called autosomal recessive disorders, are consanguinity related,” explained Dr Dalal.
Reducing burden of rare genetic diseases
One of the highlights of the programme is to create a database for rare genetic disorders in India. Data obtained from this project would be uploaded in the database for immediate reference to other researchers, patients and their family, said Dr K Thangaraj, director of CDFD.
In addition, the PRaGeD program will be involved in development of novel targeted gene therapies in selected genetic disorders. Furthermore, PRaGeD aims to develop novel and cost-effective diagnostic and screening approaches for rare genetic diseases aligning with the Ministry of Health and Family Welfare’s National Policy for Rare Diseases 2021, which intends to lower India’s high treatment costs for rare diseases.
“The National Rare Disease Policy provides financial support of up to Rs 50 lakh to the patients suffering from any category of the rare diseases and for treatment in any of the Centres of Excellence in the country. This is a welcome move because it provides a mechanism to develop new treatments in India. Most pharmas are not interested to develop treatments for these diseases because their market is not huge like that of diabetes or heart diseases. Since the government is ready to fund it, we can hope that more companies will develop treatments. If they are developed in India, costs will come down significantly,” added Dr Dalal. For the unversed, the gene therapy to treat Spinal Muscular Atrophy costs Rs 16 crore.
Some facts about rare diseases:
• It is estimated that 350 million people worldwide suffer from rare diseases
• One in 20 Indian patients is diagnosed with a rare disease
• About 80% of rare diseases are genetic
• About 50% of rare diseases affect children
• About 30% of children with these debilitating disease will not live to see their 5th birthday
• About 95% of rare diseases do not have single FDA-approved drug treatment
• National Policy for Rare Disease, 2021, aiming to lower the high cost of treating rare disease in India, was rolled out by Ministry of Health and Family Welfare
Read all the Latest India News here
Comments
0 comment