In short, what is your research project about? What are you researching and why?
Celiac disease is an autoimmune disorder induced by ingestion of dietary gluten in genetically predisposed individuals carrying either HLA DQ2 or DQ8. Regardless of the similar genetic background, the clinical picture in celiac disease is highly variable. Some patients present mainly gastrointestinal symptoms while others suffer from extraintestinal problems (e.g. skin manifestation dermatitis herpetiformis). In addition, a subgroup of celiac disease patients is completely asymptomatic. Further, the age of onset varies considerably and a subgroup of celiac disease patients develops the disease already during childhood whereas others are diagnosed during older age. The majority of patients respond well to the only available treatment, a gluten-free diet, which usually results in recovery of the small bowel mucosa and alleviation of symptoms. However, despite a long-term gluten-free diet, the symptoms may also persist and a subset of patients may be nonresponsive to the diet. Such a refractory celiac disease carries an increased risk for intestinal lymphoma and the condition requires treatment with immunosuppressive drugs. However, despite such treatment, the prognosis of refractory celiac disease remains poor. At present, the reasons behind the highly variable clinical picture are not well understood. The “Dietary Gluten-Induced Disease Entities – from Genomics to Personalised Health and Wellbeing” (DIG IN Health) project aims to clarify this issue and thereby develop better personalised approaches to diagnose and treat patients with celiac disease.
There is much talk about multi-, trans- and interdisciplinarity nowadays. Are these merely trendy buzzwords for scientific collaboration, or do they serve an instrumental purpose in your project?
The project focuses on integration of genomic and biomedical information as well as clinical and epidemiological data. By these means, the project will result in the identification of genetic or downstream biomedical markers that predict the development of celiac disease at individual level and enable targeted recognition of specific disease risks. In addition, the project will result in the identification of markers that reflect the individual’s response to treatment by a gluten-free diet. To be able to reach the aims, the project requires multidisciplinary expertise, know-how and collaboration from a variety of different disciplines including genetics, microbiology, immunobiology, clinical medicine and epidemiology – none of the individual disciplines are sufficient by themselves.
Research into personalised health involves an integrative “from-research-to-practice” mindset. Where do you place your own research in this context? Does your project have partners that are not research-related partners??
The DIG In Health project aims at producing research results that can be exploited in the diagnostic workup and management of celiac disease. We foresee that the project may enable the development of improved diagnostic methods and more effective strategies for follow-up that could be integrated into the Current Care Guidelines of celiac disease at national and international level. Close collaboration with the Finnish Celiac Disease Society ensures easy and efficient communication to the beneficiaries of the study.
A big fuss over nothing, or a major change in practices? In your estimation, how and when will the effects of the promotion of personalised health be evident in the healthcare system?
Currently, the diagnosis and treatment of celiac disease is based on a one-size-fits-all approach, meaning that the diagnostic procedure and management of the condition is the same for all patients.
We foresee that, in the future, patients’ genomic data along with characteristics of individuals’ microbiome and immunobiological response will allow us to risk-stratify, diagnose, counsel and treat patients and healthy persons genetically at risk in a personalised manner. The DIG In Health project is a first step towards this goal, but the implementation of the results into clinical practice may take time.