The event was a fantastic opportunity to connect with the community of more than 80 patients and families living with ichthyosis at the Imperial War Museum at Duxford. Ichthyoses are a group of genetic skin conditions that can cause severe skin inflammation, scaling as well as other medical conditions. Engaging directly with patients is a priority of the research group Rajan lab and the NIHR Newcastle BRC, and the team spent the day meeting families, hearing their stories, and understanding their priorities for future research and treatment, and sharing findings with patients and families from the UK and beyond.
On the day, Dr Mark Eisner shared preliminary findings from a major epidemiological study he conducted together with Professor Neil Rajan. This research, supported by the Ichthyosis Support Group (ISG), the British Association of Dermatologists and the NIHR Newcastle BRC, uses national data from over 57 million people in England to build the most accurate picture of the ichthyoses to date.
Dr Mark Eisner explained how this powerful dataset is helping to answer questions vital to the community, such as the true prevalence of rare ichthyosis (approximately 51.5 per million) and how it disproportionately affects disadvantaged people. Crucially, the data also helps confirm the multi-system nature of the condition. New findings include higher rates of associated health problems like asthma, atrial fibrillation and rheumatoid arthritis in people with ichthyosis.
‘It was really valuable meeting the people behind my study and seeing how further research could make huge improvements in their quality of life’, he said.
This work, which was research designed in partnership with the Ichthyosis Support Group (ISG) and carried out with the National Disease Registration Service (NDRS), will be vital for lobbying for better services and designing clinical trials.
The day also featured valuable talks from other leading experts, including a presentation from Professor Edel O’Toole on the new classification system for ichthyosis, now referred to as the “Epidermal Differentiation Disorders (EDD)”.
The team left feeling excited to tackle the problems faced by the rare disease community such as access to trials and the need for precision medicines, both areas of future research in the Rajan lab.