Our Community Blog Funding research into rare conditions like congenital ichthyosis January 2020 The British Skin Foundation funds research into all types of skin conditions, from common conditions like eczema and acne, to rarer conditions like ichthyosis. British Skin Foundation Trustee and Honorary Treasurer, Professor David Gawkrodger explains the current research we are funding in this area. Choice of transglutaminase 1 for protein substitution therapy in congenital ichthyosis H Hennies, K. Eckl; University of Huddersfield. Congenital ichthyosis is a distressing group of conditions characterised by extreme flakiness of the skin. The disease is very debilitating and associated with significant psychosocial burden. Patients have to spend several hours for skin care every day. Researchers have discovered that one of the causes of this is a lack of the gene for an enzyme called transglutaminase 1. Replacement of this enzyme may alleviate the distressing features of congenital ichthyosis. The researchers have previously managed to synthesise transglutaminase 1 using bacteria but found that the enzyme from this source did not have sufficient activity. In the present study the researchers are investigating the possibility of using cells derived from insects or human cells to produce the deficient enzyme, in the hope that the activity will be sufficient to produce a clinical improvement in patients. In order to demonstrate the restoration of typical features of the skin, the researchers have been using artificial skin made with human skin cells that were amplified in the laboratory. This figure demonstrates the preliminary data for the project. It shows a laboratory model of the disease made by turning off the gene for transglutaminase 1, called TGM1, in the skin cells (“knockdown”, upper row), or made with cells isolated from a small skin sample donated by a patient with congenital ichthyosis (lower row). The column on the right indicates the restoration of transglutaminase 1 activity (green colour) after treatment of the artificial skin. Ref Plank et al. J Invest Dermatol 2019; 139:1191-1195. Dr Hans Hennies from the University of Huddersfield, co-author of the research says, These are extremely promising results. We have already been able to show that a specific transfer of the enzyme through the protective layer of the skin is possible. The enzyme reaches its target and, most importantly, it is still active. However, the production of enzymes in bacteria is less complete than in animals or humans and some features are missing. We hope to demonstrate that the enzyme is even more active when made in animal or human cells and therefore more suitable for the production of drugs. This would be an important step forward to initiate clinical trials for this type of treatment. Professor David Gawkrodger & Dr Hans Hennies Donate to more research More on ichthyosis By donating to skin disease research you are helping us to find treatments and cures for common conditions like eczema, acne and psoriasis, potential killers like melanoma skin cancer and rarer conditions like congenital ichthyosis. Thank you.