Jakub Włodarczyk, leading the Laboratory of Cell Biophysics, has received funding from the European Joint Programme Reare Disease to carry out research on  "Optical imaging as a diagnostic tool for monitoring brain function in X-linked rare disorders: from preclinical models to patients”

The project focuses on Fragile X syndrome (FXS) and Creatine Transporter Deficiency (CTD) - the two most common causes of X-linked intellectual disability. Using imaging of intrinsic optical signals (IOS) in animal models and functional near-infrared spectroscopy (fNIRS) in patients the project will investigate cellular, extracellular and molecular mechanisms underlying altered IOS and assess whether visually-evoked fNIRS signals classify patients and healthy controls, showing a correlation with clinical outcomes. The project will set the background for the use of optical imaging as a novel analytic tool to facilitate diagnostic monitoring and to predict the response to potential therapeutic strategies in FXS and CTD.

The consortium coordinated by Dr. Baroncelli Laura (Italy) connects researchers from 6 European teams led by investigators with complementary expertise, ranging from advanced microscopic techniques, behavioural assessment, biochemical and single-cell expression methodologies in animal models to fNIRS and neuropsychological assessment in clinical populations, but also including big data analysis, machine learning and biostatistics.