Centre for Rare Diseases
Centre for Rare Disease Diagnosis, Research and Training
Funded by the DBT/Wellcome Trust India Alliance (Grant No. IA/CRC/20/1/600002)
About us
Rare diseases collectively affect an estimated 6–8% of the population, translating to nearly 70 million individuals in India. Despite this significant burden, timely diagnosis and appropriate management remain major challenges due to limited awareness, scarcity of trained specialists, inadequate diagnostic infrastructure, and fragmented research efforts. Many individuals thus experience prolonged diagnostic odysseys, leading to delayed interventions, increased morbidity, and psychosocial distress.
The Centre for Rare Disease Diagnosis, Research and Training strives to address this gap through a collaboration between three leading institutions: Manipal Academy of Higher Education (MAHE), the Institute of Bioinformatics (IOB), and Dr. Reddy’s Institute of Life Sciences (DRILS). The Centre integrates advanced genomics and other omics technologies to enable timely and accurate diagnosis. Beyond diagnosis, it investigates rare conditions at the molecular and cellular level to provide mechanistic insights using in-vitro and in-vivo model systems. This integrated approach deepens understanding of rare disease biology and lays out the foundation for future targeted therapies.
Quick Statistics
Virtual Centres
Manipal Academy of Higher Education (MAHE), Manipal
Established in 1953, MAHE is a multidisciplinary deemed-to-be university and an Institution of Eminence, with strengths across health sciences, engineering, management, and the social sciences. The Department of Medical Genetics at Kasturba Medical College, MAHE focuses on advancing clinical diagnosis and research in rare genetic disorders. The department provides clinical evaluation, genomic testing, genetic counselling, and management services for patients and families, contributing to both care and research.
Institute of Bioinformatics (IOB), Bengaluru
Established in 2002, the Institute of Bioinformatics is a pioneering not-for-profit research organization driving excellence in computational and systems biology. IOB conducts cutting-edge research across genomics, proteomics, metabolomics, lipidomics, and bioinformatics database development. Through interdisciplinary innovation and large-scale data integration, the institute strengthens India’s global position in precision biology and data-driven biomedical discovery.
Dr. Reddy’s Institute of Life Sciences (DRILS), Hyderabad
Founded in 2007, Dr. Reddy’s Institute of Life Sciences is a premier non-profit research institute established through a public–private partnership among Dr. Reddy’s Laboratories, the Government of Telangana, and the University of Hyderabad. Guided by a board of eminent scientists, DRILS fosters high-impact research at the interface of academia and industry. It serves as a preferred collaborative partner for the pharmaceutical and life sciences sectors, advancing innovation, translation, and capacity building in biomedical research.
Meet our Leadership
Dr. Anju Shukla — Principal Investigator
MD, DM (Medical Genetics)
Professor & Head, Department of Medical Genetics
Kasturba Medical College,
MAHE, Manipal, Karnataka, India
Email: anju.shukla@manipal.edu
Medical genetics expert who leads the Centre and is involved in patient recruitment, diagnosis, and genetic counselling.
Dr. Akhilesh Pandey — Co-Principal Investigator
MD, PhD.
Founder & Director
Institute of Bioinformatics
Bangalore, Karnataka, India
Email: pandey.akhilesh@mayo.edu
Pioneer in proteomics and mass spectrometry. Leads multi-omics and capacity-building programs.
Dr. Aarti Sevilimedu — Co-Principal Investigator
PhD
Senior Principal Research Scientist I
& Research Coordinator
Dr. Reddy’s Institute of Life Sciences
Hyderabad, Telangana, India
Email: AartiS@drils.org
Specialist in zebrafish disease models. Leads in-vivo validation of disease-causing genes.
Clinical Research Training Program
The Clinical Research Training Program (CRTP) is a key capacity-building initiative of the Centre. It is designed to cultivate physician-scientists through a mentored research environment that enables early-career clinicians to develop strong research competencies. By drawing on the combined expertise, infrastructure, and training resources of participating institutions, the program provides structured mentorship, access to specialized facilities, and exposure to diverse research settings, supporting the development of sustained careers in clinical and public health research.