India Cares for Rare Diseases

Awareness, diagnosis, novel gene discovery, counselling and novel therapies for Pediatric Rare Genetic Diseases in India

<strong><a href='https://www.bgsbu.ac.in/' target='blank' onclick='return Confirm();'>Baba Ghulam Shah Badshah University, Rajouri, Jammu and Kashmir</a></strong>

<strong><a href='https://www.jammuuniversity.ac.in/' target='blank' onclick='return Confirm();'>University of Jammu, Jammu and Kashmir</a></strong>

<strong><a href='http://cup.edu.in' target='blank' onclick='return Confirm();'>Central University of Punjab, Bathinda , Punjab</a></strong>

<strong><a href='https://www.aiims.edu' target='blank' onclick='return Confirm();'>All India Institute of Medical Sciences, New Delhi</a></strong>

<strong><a href='https://sgpgims.org.in/' target='blank' onclick='return Confirm();'>Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh</a></strong>

<strong><a href='https://www.bhu.ac.in' target='blank' onclick='return Confirm();'>Banaras Hindu University, Varanasi, Uttar Pradesh</a></strong>

<strong><a href='https://www.nirth.res.in' target='blank' onclick='return Confirm();'>ICMR-National Institute of Research in Tribal Health, Jabalpur, Madhya Pradesh</a></strong>

<strong><a href='http://www.nirrh.res.in' target='blank' onclick='return Confirm();'>ICMR-National Institute for Research in Reproductive and Child Health, Mumbai, Maharashtra</a></strong>

<strong><a href='http://www.ils.res.in' target='blank' onclick='return Confirm();'>Institute of Life Sciences, Bhubaneshwar, Odisha</a></strong>

<strong><a href='http://www.cdfd.org.in' target='blank' onclick='return Confirm();'>Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana</a></strong>

<strong><a href='https://www.nims.edu.in' target='blank' onclick='return Confirm();'>Nizam’s Institute of Medical Sciences, Hyderabad, Telangana</a></strong>

<strong><a href='http://www.chg.res.in' target='blank' onclick='return Confirm();'>Centre for Human Genetics, Bengaluru, Karnataka</a></strong>

<strong><a href='https://www.nimhans.ac.in' target='blank' onclick='return Confirm();'>National Institute Of Mental Health And Neuro Sciences, Bengaluru, Karnataka</a></strong>

<strong><a href='https://www.cmch-vellore.edu' target='blank' onclick='return Confirm();'>Christian Medical College, Vellore, Tamil Nadu</a></strong>

<strong><a href='https://www.unom.ac.in' target='blank' onclick='return Confirm();'>University of Madras, Chennai, Tamil Nadu</a></strong>

<strong><a href='https://www.rgcb.res.in' target='blank' onclick='return Confirm();'>Rajiv Gandhi Centre for Biotechnology, Trivandrum, Kerala</a></strong>

Our Goal

The goal of the project is to reduce the burden of rare diseases in India by the joint efforts of Doctors, Scientists and Citizens.

It is estimated that 350 million people worldwide suffer from rare disease.
1 in 20 Indian patients diagnosed with a rare disease.
About 80% of rare diseases are genetic.
50% of rare disease affect children.
An average age of 7 years to diagnose rare disease.
About 30% of children with these debilitating disease will not live to see their 5th birthday.
95% of rare disease 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, Government of India.

Our Mission

Mission program on Pediatric Rare Genetic Disorders (PRaGeD) is a PAN-India initiative funded by the Department of Biotechnology (DBT), Ministry of Science and technology, Government of India. PRaGeD aims to create awareness, achieve genetic diagnosis, discover & characterize new genes/mutations, provide counselling, and to develop new therapies for pediatric rare genetic diseases in India.

CDFD is collaborating with pediatrics departments of medical colleges, DBT-UMMID centers, and 15 centers across India to analyze samples from children with rare genetic disorders and their parents. Scientists at the CDFD will perform high-throughput Whole Exome Sequencing (WES)/ Whole Genome Sequencing (WGS), analysis of sequence data, functional validation of the new genes/variants, a database of phenotype-genotype to determine which gene/mutation(s) cause rare disease condition. Data obtained from this project would be uploaded in the database for immediate reference to other researchers, patients and their family.