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

17th
Meeting
“Phenotypic effects of genetic variants associated with autism beyond diagnosis”

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

Thomas Bourgeron
17th
Meeting
“Molecular and neuronal phenotypes of CHD2 dosage sensitivity in neurodevelopmental disorders”

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

Gemma Carvill
17th
Meeting
“Predicting gene-dosage associations at the genome scale using machine learning: the example of the X chromosome”

Principal Investigator - BAULAC LAB Institut du Cerveau, Paris, France - Institute of Human Genetics – Essen – Germany

Christel Depienne
17th
Meeting
“PhenoScore: AI-based phenomics to quantify rare disease and genetic variation”

Researcher Radboud university medical center - Nijmegen The Netherlands

Lex Dingemans
17th
Meeting
“Long-read sequence and assembly of patient genomes”

Principal Investigator Eichler Lab Department of Genome Sciences - Professor of Genome Sciences - University of Washington

Evan Eichler
17th
Meeting
“Angelman syndrome: Shifting from mechanisms towards ASO treatment’”

Professor of Molecular Neuroscience - Chair Research and Education, Dept. of Clinical Genetics - Scientific director ENCORE Expertise Centre for Neurodevelopmental Erasmus Mc - Erasmus Medical University Center, Rotterdam – The Netherlands

Ype Elgersma
17th
Meeting
“Genetic, molecular and mouse model investigations of broad neurodevelopmental impact of deleterious variants of the TREX mRNA export complex subunits”

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
17th
Meeting
“The brain on time: links between development and degeneration”

Scientific Director Institut du Cerveau, Paris, France

Bassem Hassan
17th
Meeting
“Face2HPO: CNN-based HPO Labeling and Disorder Classification of Syndromic Face”

Phd candidate - Institute for Genomic Statistics and Bioinformatics, Bonn, Germany

Alexander Hustinx
17th
Meeting
“Towards functional and molecular understanding of human-derived networks in neurodevelopmental disorders”

Researcher Radboud university medical center - Nijmegen The Netherlands

Sofia Puvogel Lutjens
17th
Meeting
“Epigenetic approaches to epilepsy diagnosis”

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

Heather C Mefford
17th
Meeting
“Genetic basis of severe child speech disorder”

Director of the NHMRC Centre of Research Excellence in Speech and Language - Murdoch Children's Research Institute – Adelaide – Australia

Angela Morgan
17th
Meeting
“The Human Phenotype Ontology: AI and Semantic Algorithms for Phenotype Driven Translational Research and Genomic Diagnostics”

Professor of Computational Biology – The Jackson Laboratory - Bar Harbor Maine – USA

Peter Robinson
17th
Meeting
“Translating brain organoids endophenotypes: from mechanisms to scales”

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
17th
Meeting
“GestaltMatcher Database – a FAIR database for medical imaging data of rare diseases”

Postdoctoral researcher Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, Germany

Hsieh Tzung-Chien
17th
Meeting
“The different faces of SETBP1”

Clinical geneticist - Radboud University Medical Center - Nijmegen The Netherlands

Bregje van Bon
17th
Meeting
“Precision therapy development for KCNQ2-encephalopathy: a coordinate European effort”

Principal Investigator - BAULAC LAB Institut du Cerveau, Paris, France - University of Antwerpen - The Netherlands

Sarah Weckhuysen
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Scientific Committee
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Invited Speakers
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Partner
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Attendees