+39 0935 936374 - 301

The springtime annual genetic event since 2005!

A privileged occasion for participants and speakers to exchange opinions, discuss relevant topics and plan future research developments.

Congress Venue

Hotel La Cittadella dell'Oasi
Address: C/da S. Michele
94018 Troina (EN)
Phone: +39 0935 653966
Email: ricevimento@oasiturismo.com
Website: www.oasiturismo.com


Invited Speakers

14th
Meeting
“The genes and mechanisms underlying autism”

Professor – Human Genetics and Cognitive Functions – Department of Neuroscience – Institut Pasteur – Paris, France

Thomas Bourgeron
14th
Meeting
“PCDH19 Girls clustering epilepsy, a disorder of cellular mosaics”

NH&MRC Senior Principal Research Fellow, Channel 7 CRF Chair for the Prevention of Childhood Disability – Adelaide Medical School – Faculty of Health and Medical Sciences – The University of Adelaide – Adelaide, Australia

Jozef Gecz
14th
Meeting
“Pathogenesis of FXTAS”

Distinguished Professor of Biochemistry and Molecular Medicine MIND Institute Investigator - University of California, Davis, School of Medicine – Sacramento, CA

Paul J. Hagerman
14th
Meeting
“Autosomal Recessive Intellectual Disability: A Story of Stealth, Affliction, Heritage and Opportunities”

Professor of Human Genetics – Alfaisal University and KFSHRC – Riyadh – Saudi Arabia

Fowzan S Alkuraya
14th
Meeting
“New Targeted Treatments in Fragile X syndrome”

Medical Director, MIND Institute – Distinguished Professor – Endowed Chair in Fragile X Research – UC Davis Health System – Sacramento, CA

Randi J. Hagerman
14th
Meeting
“IMPACT: Identification of converging Molecular Pathways Across Chromatinopathies as Targets for Therapy”

Professor of Molecular Neurogenetics, Principal Investigator, Departments of Human Genetics & Cognitive Neuroscience, Radboudumc, Donders Institute for Brain, Cognition and Behaviour – Nijmegen, The Netherlands

Hans van Bokhoven
14th
Meeting
“SHANK2 mutations associated with Autism Disorder cause hyperconnectivity of human neurons”

Senior Scientist, Developmental & Stem Cell Biology, Research Integrity Advisor – Hospital for Sick Children – Peter Gilgan Centre for Research and Learning –Toronto, Canada

James Ellis
14th
Meeting
“Epigenetic Regulators in Autism Spectrum Disorders”

Assistant Professor, Genetic and Molecular Basis of Neurodevelopmental Disorders – Institute of Science and Technology (IST Austria) – Klosterneuburg, Austria

Gaia Novarino
14th
Meeting
“Modelling mitochondrial disorders and epilepsy using induced pluripotent stem cells”

Group Leader - Associate Professor – Department of Human Genetics and Cognitive Neurosciences – Donders Institute for Brain, Cognition and Behaviour – Radboud University Medical Centre – Nijmegen, The Netherlands

Nael Nadif Kasri
14th
Meeting
“Next generation phenotyping in intellectual disability”

Associate Professor - Department of Human Genetics – Radboud University Medical Center Visiting staff member – Donders Centre for Neuroscience/Donders Institute for Brain, Cognition and Behaviour - Nijmegen – The Netherlands

Bert BA de Vrie
14th
Meeting
“Drug development in Phelan-McDermid Syndrome”

Director, Seaver Autism Center for Research and Treatment – Mathers Professor and Vice-Chair for Research, Department of Psychiatry – Icahn School of Medicine at Mount Sinai – New York, USA

Joseph D Buxbaum
14th
Meeting
“Neurotransmitter receptor dysfunctions and possible therapeutical interventions in Fragile X syndrome”

Senior Researcher – Institute of Neurological Sciences (CNR) – Mangone, Italy

Maria Vincenza Catania
14th
Meeting
“Mosaic mutations in brain malformations”

Assistant Professor, Pediatrics and Medical Genetics - Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington, USA - Department of Pediatrics, University of Washington, Seattle, Washington, USA

Ghayda Mirzaa
14th
Meeting
“De novo variants in neurodevelopment disorders with epilepsy”

Professor, Clinical Genetic Testing in the Epilepsies – International League Against Epilepsy (ILAE) – Flower Mound, USA

Johannes Lemke
14th
Meeting
“One by one: single cell resolution illuminates disease pathogenesis in organoid models of neurodevelopmental disorders”

Researcher – Department of Experimental Oncology – IEO- Istituto Europeo di Oncologia – Milan, Italy

Johannes Lemke
14th
Meeting
“Aberrant splicing of poison exons in patients with epilepsy”

Assistant Professor of Neurology (Neurophysiology/Epilepsy), Pediatrics and Pharmacology – Northwestern University – Chicago, USA

Gemma Carvill

On site Organizing Secreteriat
(registration, trip and accommodation)

Scientific Direction

Eleonora Di Fatta
Phone: +39 0935 936301
Email: edifatta@oasi.en.it

Scientific Direction

Rosy Di Giorgio
Phone: +39 0935 9363714 / +39 334 2190061
Email: rdigiorgio@oasi.en.it

Permanent Education Program and Continuing Medical Education Office

Fabio Vezzuto

Fabio Vezzuto
Phone: +39 0935 936642
Email: ecm@oasi.en.it

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Scientific Committee
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Invited Speakers
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Partner
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Attendees