A novel Biomarker for the fragile X syndrome.

Clinical trials in the fragile X syndrome patients, a frequent form of intellectual disability, have been initiated based upon involvement in a number of pathways. What we have learned so far is that we are only in part able to determine the outcome of the trial, due to a lack of easily measurable outcome measures. Over the last years, evidence accumulated that the phosphorylation of specific proteins is altered in the blood of fragile X syndrome patients. Some of the phosphorylation abnormalities that have been detected cluster in the glutamatergic and the GABAergic pathway, the two pathways that have been already been explored for targeted treatment in patients fragile X syndrome. In this project, we propose to measure the phosphorylation abnormities of more than 144 peptides at once, using a novel array-based technology developed by a company called PamGene. We hope that these phosphorylation abnormalities can be potentially used to monitor the effect of a future clinical trial.

Keywords:MEDICAL GENETICS, FRAGILE X-SYNDROME

Disciplines:Genetics, Systems biology, Molecular and cell biology