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The Indian Council of Medical Research has awarded a grant of about Rs 5.5 crore for research on epidermolysis bullosa, a rare inherited skin disorder.
The grant goes to the Sri Madhusudan Sai Institute of Medical Sciences and Research at Muddenhalli in Karnataka's Chikkaballapur district.
The project, ADAPT-EB, aims to develop accessible diagnostics and affordable precision therapies for the Indian population.
Epidermolysis bullosa causes extreme skin fragility, in which minor friction or trauma produces blistering and wounds; patients are often called butterfly children.
There are four types, EB simplex, junctional EB, dystrophic EB and Kindler syndrome, and there is at present no cure.
Epidermolysis bullosa is not one disease but a group of inherited disorders in which the proteins that anchor the layers of skin to one another are defective. The result is extreme skin fragility: minor friction or trauma that would not mark ordinary skin causes blisters and open wounds. Patients may develop chronic wounds, scarring, nutritional complications from blistering inside the mouth and throat, and an increased long-term risk of skin cancer. Because the defect lies in the genes coding for those anchoring proteins, the condition can be inherited in an autosomal dominant pattern, from one affected parent, or in an autosomal recessive pattern, requiring a copy from each parent. There is currently no cure, and treatment aims at relieving symptoms, protecting the skin and preventing complications.
Simple Analogy: Think of skin as layers of fabric held together by stitching. In epidermolysis bullosa the stitching is faulty, so the smallest tug separates the layers and a blister forms where the fabric comes apart.
| Type | Note |
|---|---|
| EB simplex (EBS) | The mildest and most common form |
| Junctional EB (JEB) | Less common and more severe in its effects on the patient |
| Dystrophic EB (DEB) | Less common and more severe in its effects on the patient |
| Kindler syndrome | Shows features that mix those of the other types |
India's apex body for the formulation, coordination and promotion of biomedical research, funded by the Department of Health Research under the Ministry of Health and Family Welfare. It runs an extramural grants programme through which projects such as ADAPT-EB are supported.
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A group of rare inherited disorders in which defective anchoring proteins make the skin so fragile that minor friction causes blistering and wounds.
A pattern in which a person must inherit the defective gene from both parents to be affected; carriers with one copy usually show no symptoms.
Tiny white pimple-like bumps that form as blistered skin heals, a common feature in epidermolysis bullosa.