Dr. Willemsen is a Professor for Functional Neurogenetics in the Department of Clinical Genetics at Erasmus University Medical Center in Rotterdam, the Netherlands. He is a leader in the development and characterization of genetic animal models for FXS (mouse and zebrafish). His research group has been involved in the understanding of the molecular basis of FXS and currently his group is focused on experimental approaches towards therapeutic intervention for FXS. The first avenue of research has resulted in several knockout mice for the Fmr1 gene, including conditional knockout, that are now used worldwide as the standard in (pre-clinical and fundamental research) studies for FXS. Dr. Frank Kooy is Professor in Cognitive Genetics at Department of Medical Genetics of the University of Antwerp. His research successfully focusses on the identification of genetic causes of cognitive disorders, such as intellectual disability and autism and to study the defective genes with the ultimate goal of developing rational therapies. He has been involved in research on multiple aspects of the Fragile X Syndrome research for two decades.

• Clinics, diagnosis, epidemiology, molecular mechanisms and models1. The Clinical Phenotype of the Fragile X Syndrome and Related Disorders2. Fragile X Syndrome Genetics3. Molecular Diagnostics and Genetic Counseling in Fragile X syndrome and FMR1 associated disorders4. Epidemiology of Fragile X Syndrome5. Mechanisms of repeat instability in Fragile X Syndrome6. Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells7. Animal models - drosophila, mouse, rat and zebrafishPathways Involved8. RNA and protein targets of FMRP 9. The mGluR Theory of Fragile X from Mice to Men10. The GABAergic System contributions to the Fragile X Syndrome Phenotype 11. Intracellular Signaling Networks in Fragile X Syndrome: Approaches to Drug Discovery and Therapeutics12. The Endocannabinoid System in Fragile X Syndrome13. Glycogen synthase kinase-3: Abnormalities and therapeutic potential in Fragile X syndrome14. Defects in Rho GTPase signaling to the spine actin cytoskeleton in FMR1 knockout mice15. Matrix Metalloproteinases in Fragile X Syndrome 16. Ion channel dysfunction and FXS17. Reactivation of FMR1 geneClinical trials18. Drug discovery for targeted pharmacotherapy of Fragile X Syndrome19. Overview of targeted double blind, placebo controlled clinical trials in Fragile X Syndrome20. Reflections on Clinical trials in Fragile X syndrome21. Toward better outcome measures in clinical trials22. Fragile X Research from a Parental Perspective

Dr. Willemsen is a Professor for Functional Neurogenetics in the Department of Clinical Genetics at Erasmus University Medical Center in Rotterdam, the Netherlands. He is a leader in the development and characterization of genetic animal models for FXS (mouse and zebrafish). His research group has been involved in the understanding of the molecular basis of FXS and currently his group is focused on experimental approaches towards therapeutic intervention for FXS. The first avenue of research has resulted in several knockout mice for the Fmr1 gene, including conditional knockout, that are now used worldwide as the standard in (pre-clinical and fundamental research) studies for FXS. Dr. Frank Kooy is Professor in Cognitive Genetics at Department of Medical Genetics of the University of Antwerp. His research successfully focusses on the identification of genetic causes of cognitive disorders, such as intellectual disability and autism and to study the defective genes with the ultimate goal of developing rational therapies. He has been involved in research on multiple aspects of the Fragile X Syndrome research for two decades.

• Clinics, diagnosis, epidemiology, molecular mechanisms and models1. The Clinical Phenotype of the Fragile X Syndrome and Related Disorders2. Fragile X Syndrome Genetics3. Molecular Diagnostics and Genetic Counseling in Fragile X syndrome and FMR1 associated disorders4. Epidemiology of Fragile X Syndrome5. Mechanisms of repeat instability in Fragile X Syndrome6. Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells7. Animal models - drosophila, mouse, rat and zebrafishPathways Involved8. RNA and protein targets of FMRP 9. The mGluR Theory of Fragile X from Mice to Men10. The GABAergic System contributions to the Fragile X Syndrome Phenotype 11. Intracellular Signaling Networks in Fragile X Syndrome: Approaches to Drug Discovery and Therapeutics12. The Endocannabinoid System in Fragile X Syndrome13. Glycogen synthase kinase-3: Abnormalities and therapeutic potential in Fragile X syndrome14. Defects in Rho GTPase signaling to the spine actin cytoskeleton in FMR1 knockout mice15. Matrix Metalloproteinases in Fragile X Syndrome 16. Ion channel dysfunction and FXS17. Reactivation of FMR1 geneClinical trials18. Drug discovery for targeted pharmacotherapy of Fragile X Syndrome19. Overview of targeted double blind, placebo controlled clinical trials in Fragile X Syndrome20. Reflections on Clinical trials in Fragile X syndrome21. Toward better outcome measures in clinical trials22. Fragile X Research from a Parental Perspective

Dr. Willemsen is a Professor for Functional Neurogenetics in the Department of Clinical Genetics at Erasmus University Medical Center in Rotterdam, the Netherlands. He is a leader in the development and characterization of genetic animal models for FXS (mouse and zebrafish). His research group has been involved in the understanding of the molecular basis of FXS and currently his group is focused on experimental approaches towards therapeutic intervention for FXS. The first avenue of research has resulted in several knockout mice for the Fmr1 gene, including conditional knockout, that are now used worldwide as the standard in (pre-clinical and fundamental research) studies for FXS. Dr. Frank Kooy is Professor in Cognitive Genetics at Department of Medical Genetics of the University of Antwerp. His research successfully focusses on the identification of genetic causes of cognitive disorders, such as intellectual disability and autism and to study the defective genes with the ultimate goal of developing rational therapies. He has been involved in research on multiple aspects of the Fragile X Syndrome research for two decades.

• Clinics, diagnosis, epidemiology, molecular mechanisms and models1. The Clinical Phenotype of the Fragile X Syndrome and Related Disorders2. Fragile X Syndrome Genetics3. Molecular Diagnostics and Genetic Counseling in Fragile X syndrome and FMR1 associated disorders4. Epidemiology of Fragile X Syndrome5. Mechanisms of repeat instability in Fragile X Syndrome6. Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells7. Animal models - drosophila, mouse, rat and zebrafishPathways Involved8. RNA and protein targets of FMRP 9. The mGluR Theory of Fragile X from Mice to Men10. The GABAergic System contributions to the Fragile X Syndrome Phenotype 11. Intracellular Signaling Networks in Fragile X Syndrome: Approaches to Drug Discovery and Therapeutics12. The Endocannabinoid System in Fragile X Syndrome13. Glycogen synthase kinase-3: Abnormalities and therapeutic potential in Fragile X syndrome14. Defects in Rho GTPase signaling to the spine actin cytoskeleton in FMR1 knockout mice15. Matrix Metalloproteinases in Fragile X Syndrome 16. Ion channel dysfunction and FXS17. Reactivation of FMR1 geneClinical trials18. Drug discovery for targeted pharmacotherapy of Fragile X Syndrome19. Overview of targeted double blind, placebo controlled clinical trials in Fragile X Syndrome20. Reflections on Clinical trials in Fragile X syndrome21. Toward better outcome measures in clinical trials22. Fragile X Research from a Parental Perspective