Molecular Genetics of Neurodevelopmental Disorders

Research Activity

The Laboratory of Molecular Genetics of Neurodevelopment (GNS Lab) is a leading center for the molecular diagnostics of Fragile X Disorders: Fragile X Syndrome (FXS), Fragile X-associated Neuropsychiatric Conditions (FXANC), Fragile X-associated Primary Ovarian Insufficiency (FXPOI), Fragile X-Associated Tremor Ataxia Syndrome (FXTAS).
The laboratory members have a long and well established experience in the development and validation of protocols for genomic and transcriptomic analysis in rare pediatric neurodevelopmental disorders, and work in synergy with the pediatric Neurology and Neurophysiology unit of the Department of Women’s and Children’s Health.
The Laboratory is a part of the X-Fragile Multidisciplinary Network of Padua (http://www.sdb.unipd.it/centro-x-fragile).
The main research objective is to understand the molecular mechanisms and correlation with the clinical manifestations of Fragile X Syndrome and FMR1 premutation-related diseases (FXPAC), with two main goals:
• identifying molecular biomarkers that can represent better tools for evaluating the clinical course of these disorders and possibly monitor the efficacy of new drugs;
• identifying possible new specific pathways that can be target of innovative therapies.