Asociación Centro de Investigación Cooperativa en Biociencias

Irritable bowel syndrome (IBS) affects one in seven people with gastrointestinal (GI) symptoms that are detected without an established underlying organic cause. IBS strongly impacts quality of life, is a leading cause of work absenteeism, and consumes 0.5% of the healthcare annual budget. It manifests in women more than men with symptoms including abdominal pain, bloating, constipation (IBS-C), diarrhoea (IBS-D), and mixed presentations (IBS-M). The development of therapeutic options is hampered by the heterogeneity of IBS, the lack of specificity of its symptom-based definitions, and the poor understanding of the underlying pathophysiological mechanisms.
Many people with IBS find that certain foods (particularly carbohydrates) trigger their symptoms and avoiding such foods has been shown to be effective in IBS. An example of such a diet is the low-FODMAP (fermentable oligo-, di-, monosaccharides and polyols) exclusion diet, developed by researchers at Monash University. This has suggested that the food-symptom relation may involve malabsorption of carbohydrates due to inefficient enzymatic breakdown of polysaccharides. However, only a percentage of subjects respond to this diet. Overall, the current findings relating to SI, suggest a strong potential for effective personalized therapeutic (dietary) interventions in subgroups of IBS subjects and suggest similar mechanisms should be investigated in relation to other genes involved in the digestion and absorption of carbohydrates (CDGs). This project aims to understand what the mechanisms for GI symptoms in subjects with these genetic alterations are. Aim of the study is to assess the gut response to a sucrose challenge in single-and double-carriers of the common hypomorphic sucrase-isomaltase variant p. (Val15Phe) vs non- carriers (negative controls) and CSID subjects (positive controls), applying an MRI multiparametric test combined with a breath test.

Objective: To search for potential biomarkers obtained by non-invasive methods (24-hour urine collection) that distinguish between patients diagnosed with systemic lupus erythematosus with or without renal involvement, patients with non-autoimmune renal disease and healthy donors.
Lupus nephritis is one of the most common and severe complications of systemic lupus erythematosus, causing from asymptomatic mild proteinuria to rapidly progressive glomerulonephritis with kidney failure. To date, kidney biopsy (an invasive medical procedure with associated risks and complications) is essential for making a definitive diagnosis, assessing the severity of the damage and deciding on the best treatment. In relation to this, the identification of biomarkers using a non-invasive biological sample could help to classify population groups, and this would be a great step forward in the clinical setting.
In this research project, we propose to conduct a case and control study. For this, we will first carefully classify the study groups, using clinical data on patients and by testing a pool of peptides described in the scientific literature in each of the sample groups, using solid phase extraction combined with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Subsequently, we will carry out multivariate principal component analysis on the data collected, and calculate corresponding receiver operating characteristic curves, to enable us to identify the masses corresponding to peptides with potential as biomarkers. We will then use classification algorithms to select sets of masses that would allow us to distinguish the population groups, and generate statistical classifiers for assessing the level of confidence in the model and its subsequent validation.