Center for Rare Disease Diagnosis, Research and Training

Rare diseases affect 72-96 million in India and most have a genetic basis.

We propose to create a multiinstitutional Center for Rare Disease Diagnosis, Research and Training to address the burden of rare diseases that together constitute a major public health burden in the country.

Our interdisciplinary team comprises clinicians with sound knowledge of genetics, scientists with demonstrated experience in cellular and molecular biology and Omics approaches and computational biologists.

The team will recruit and maintain a clinical cohort, establish a biorepository and investigate genomic alterations by next generation sequencing.

Genetic changes would be functionally characterized through experiments in cellular and animal model systems (human cells, yeast, fruit fly and zebrafish).

Further, the functional impact of the mutations will be studied using integrated transcriptomics, proteomics and metabolomics approaches.

We expect the outcomes to include gene discovery, an understanding of the pathogenic mechanisms for a subset of new disorders, a center-specific rare disease registry, informed genetic counselling, a patient support group and rigorous training of clinicians and biologists in translational research.

We will establish a Physician-Scientist Training Program and a doctoral program to develop personnel trained in this area and to continue it beyond the funding period as a regular activity.