Karnataka medical institute gets ₹5.5 crore ICMR grant for rare skin disorder care

The Sri Madhusudan Sai Institute of Medical Sciences and Research (SMSIMSR) at Muddenahalli in Chikkaballapur district of Karnataka has been awarded a research grant of ₹5.5 crore by the Indian Council of Medical Research (ICMR) for developing affordable diagnostic and precision treatment approaches for epidermolysis bullosa (EB), a rare genetic disorder that causes extreme skin fragility.

ICMR, India's apex body for biomedical research, has sanctioned ₹5,50,08,874 for a four-year project titled ADAPT-EB — Developing Accessible Diagnostics and Affordable Precision Therapies for Epidermolysis Bullosa in the Indian population. The project will be led by Dr. Vamsi Krishna Yenamandra, with Dr. Divya Seshadri and Dr. Manoj Srinivasa of SMSIMSR, and Dr. Sharath Chandra Konda of SVS Medical College, Mahbubnagar, as co-investigators.

Epidermolysis bullosa refers to a group of inherited disorders in which minor friction or trauma causes blisters and wounds on the skin. Affected individuals often suffer from chronic wounds, scarring, nutritional deficiencies, and an increased risk of skin cancer. The disease can severely affect quality of life and requires lifelong management, making early diagnosis and effective treatment crucial.

According to SMSIMSR, India currently has no national registry for EB. Access to affordable molecular diagnostics and coordinated multidisciplinary care remains limited, particularly for patients in smaller towns and rural areas. The ADAPT-EB project aims to fill these gaps by developing low-cost and accessible solutions tailored to the Indian population.

A key objective of the project is to develop targeted genomic assays that can identify disease-causing mutations at a cost significantly lower than whole-exome sequencing. The researchers estimate that these assays can reduce diagnostic expenses by more than 60%, making testing affordable for a larger number of families. The assays are also expected to be useful for carrier detection and prenatal screening, enabling better-informed reproductive decisions and genetic counselling.

In addition to diagnostics, the project will explore "revertant mosaicism," a natural phenomenon where some cells in a patient's body spontaneously correct genetic mutations. By studying this process, the team hopes to identify approaches for developing patient-specific regenerative therapies, which could offer new treatment possibilities for individuals with EB.

The project will employ an integrated precision medicine framework that combines prevention, prediction, diagnosis, regenerative therapy, and genotype-guided disease management. The goal is to produce comprehensive evidence that can support earlier diagnosis, improve genetic counselling, and make therapeutic options more accessible across the country. The researchers will also work on building a genetic database of Indian EB patients, which can serve as a valuable resource for future studies and clinical care.

Dr. Yenamandra, the principal investigator, said EB poses a major challenge to patients and families, particularly when specialised diagnosis and care are difficult to access. "ADAPT-EB is designed to address this gap," he said, emphasising the need for affordable and scalable solutions that can be implemented in diverse healthcare settings.

The four-year timeframe will allow the team to validate the newly developed technologies in clinical settings before making them available for broader use. The findings of the project are expected to be published in peer-reviewed journals and shared with medical practitioners to facilitate early adoption of the new diagnostic and therapeutic methods.

The grant is expected to enhance the research capacity of SMSIMSR and contribute to global knowledge on rare genetic skin disorders. It also highlights the growing attention to rare diseases within India's biomedical research landscape, where such conditions have often been underfunded and understudied.