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@oasisrl.it

Invited Speakers

18th
Meeting
“DNA Methylation Signatures in Rare Neurodevelopmental Disorders”

Postdoctoral Research Fellow in Genetics & Genome Biology - The Hospital for Sick Children (SickKids), Toronto (Canada)

Zain Awamleh
18th
Meeting
“Finding causes of missing heritability in neurogenetic disorders: exploring the dark matter of the genome”

Clinical Genetics - Sophia Children's Hospital - Erasmus MC – Rotterdam - The Netherlands

Stefan Barakat
18th
Meeting
“A genetic bridge for autism between medicine and neurodiversity”

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

Thomas Bourgeron
18th
Meeting
“The value of the phenotype in Neuro Developmental Disorders: Phenoscore and more”

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 de Vries
18th
Meeting
“The bioengineering of organoids in Neurodevelopmental Disorders”

Full Professor at the Department of Industrial Engineering, University of Padova - Italy; Professorial Research Associate, Faculty of Pop Health Sciences, Centre for Stem Cells & Regenerative Medicine, University College London, UK - Distinguished Professor-in-Residency at Shanghai Institute of Advanced Immunochemistry (SIAIS), ShanghaiTech University, Shanghai, China

Nicola Elvassore
18th
Meeting
“RNA variant assessment using transactivation and transdifferentiation”

Head Neurogenetics, Adelaide Medical School, Faculty of Health and Medical Sciences – University of Adelaide – Australia

Jozef Gecz
18th
Meeting
“Developing Gene-Modifying Therapies for Dravet Syndrome”

Professor and Chair- Michigan Neuroscience Institute, University of Michigan – USA

Lori Isom
18th
Meeting
“Advancing our understanding of fragile X syndrome through human iPSC-Based 2D and 3D Models”

Professor and Chair, Department of Human Genetics, Emory University School of Medicine – Atlanta (USA)

Peng Jin
18th
Meeting
“Unveiling the Dynamic Influence of Primary Cilia during Neuronal Plasticity: From Silent Observer to Central Player”

Full professor - Principal Investigator - Donders Institute for Brain, Cognition and Behaviour - Radboud University - Nijmegen, The Netherlands

Nael Nadif Kasri
18th
Meeting
“Advancements in Understanding Koolen-de Vries Syndrome: A Decade and Beyond of Insights and Discoveries”

Clinical Geneticist - Radboud University Medical Centre - Nijmegen, The Netherlands

David Koolen
18th
Meeting
“A patient-derived model and potential therapeutic approaches for UBA5-related epilepsy”

Center for Pediatric Neurological Disease Research St. Jude Children’s Research Hospital – Leader Mefford lab - Memphis, USA

Heather Mefford
18th
Meeting
“Increased clinical yeld of disease-causing variants with long-read sequencing”

Assistant Professor, Department of Pediatrics, Division of Genetic Medicine - Department of Laboratory Medicine and Pathology, University of Washington, Seattle

Danny E. Miller
18th
Meeting
“Somatic repeat instability, chromosomal fragility, and chromosomal instability, and disease”

Genetics – University of Toronto – Canada

Christopher Pearson
17th
Meeting
“Human neurodiversity in a dish: towards a paradigm shift for neurodevelopmental modelling through organoid epidemiology”

Direttore Laboratorio di Epigenetica delle Cellule Staminali – Istituto Europeo Oncologico – Milano – Professore Ordinario di Biologia Molecolare - Universita degli Studi di Milano - Direttore del Centro di Neurogenomica, Human Technopole, Milan – Italy

Giuseppe Testa
18th
Meeting
“Interpreting the impact of noncoding structural variation in neurodevelopmental disorders”

Assistant professor - Faculty of Medicine and Health Sciences, Department of Biomolecular Medicine - Ghent University, Belgium

Sara Vergult
18th
Meeting
“The role of tandem repeats in neurological disorders”

Associate Professor - Molecular Genetics, University of Toronto - Toronto

Ryan Yuen
18th
Meeting
“Identifying disease-causing non-coding variants in the Genomics England 100,000 Genomes Project”

Associate Professor and Group Leader at the Big Data Institute and the Wellcome Centre for Human Genetics - University of Oxford, United Kingdom

Nicola Whiffin
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Scientific Committee
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Invited Speakers
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Partner
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Attendees