Preliminary Program (up

Preliminary Program (up-dated April 10 )
th
General scheme
1) Researchers and CliniciansTrack,with ECM for M Doctors, Biologists and Geneticians
2) Therapists, Educators and Teachers Track,with different ECM for Therapists and Educators
Spaces for Exhibitions
Individual consultations for families about specific problems
Families are admitted at all the sessions
1 – Researchers and CliniciansTrack
Friday, October 30th
Opening Lecture
Update on European policy on Rare Diseases– DomenicaTaruscio, ISS Rome, Italy
Basic Research 1
Disruption of DNA methylation dependent long gene repression in Rett syndrome;
Studying in vitro and in vivo MeCP2 Y120 phosphorylation: novel insights on a multifunctional
protein
Speakers by abstracts
Discussion
Basic Research2
Crisp Cas systems for MECP2
Glialcells, MECP2 and RettSyndrome
Speakers by abstracts
Discussion
Lecture
From the Neuroscience research to the treatment - Silvio Garattini, I M Negri, Milan, Italy
Focus on Epilepsy
Epilepsy in Rett Syndrome
Epileptic and non-epileptic paroxysmal disorders
Alternative treatments (ketogenic diet, VNS, etc.)
Discussion
Evolution and treatment with aging
The evolution today: contribution of genetics and epidemiology
From childhood to adulthood: protocols for clinical management
Discussion
Genetics
Exome sequencing on a cohort of Rett patients
Improving genetic diagnosis using NGS: comparing panell-exomes
Discussion
Saturday, October 31st
Pharmacological and genetic approaches 1
X chromosome reactivation
Gene therapy in Rett Syndrome
Speakers by abstracts
Discussion
Pharmacological and genetic approaches 2
CDKL5 therapy
Synaptic phenotypes in CDKL5 and MECP2 models insight into signaling alteration
Speakers by abstracts
Discussion
Focus on Clinical Problems
Disturbed Autonomic Nervous system
Breathing disorders
Druginteractions and cardiological prevention
Discussion
Management of Sleepdisorders? Pain?
Update on Nutrition with aging (vit D deficiency, omega 3 fattyacids, supplements, etc.)
New advances on Emergency assistance
Discussion
Cognition and Communication
New insight in Cognition and Communication
Recent research on communication
Discussion
Emotion and Behavior treatment optional
Rehabilitation
Topics in Rehabilitation
Trials and therapy
Discussion
Sunday, November 1st
The point on Clinical Trials: from scientific background to results
IGF1 results
NNZ-2566 trial
Copaxone results and statins launch
Neuroimmunology and Copaxone in a different trial
Desipramin and cardio-respiratory variability
Trofinetide on Osteoporosis
EPI-743 results
Rethinking the future of clinical trials in Rett Syndrome
Rett Networked Database: improvement and use for clinical trials
Round tables
Meeting with experts and conclusive considerations on research
Meeting with experts and conclusive considerations on clinics
Meeting with experts and conclusive considerations on rehabilitation
Closing Remarks
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2 – Therapists, Educators and Teachers Track - Parallel session
Rehabilitation
Movement: evaluation and intervention
Rehabilitation: advances and new trials
Proposal of a new observational grid to observe gross motor modifiabity
Conventional physical therapy for scoliosis
Hand mannerism and scoliosis
Rehabilitation of gait initiation: observation in girls who undertook gait analysis
Rett syndrome and music
Psychological care and quality of life
Attention, memory, language, learning, communication and behavior problems
Video-sessions and training on:
1-Techniques for increasing attention and memory
2 -Techniques to increase language
3- Techniques to enhance learning and communication
4 -Techniques for managing behavior problems increasing
Speakers
Armstrong Judith, Barcelona, Spain
Ballas N, New York, USA
Ben Zeev Bruria, Tel Aviv, Israel
Budden Sarojini, Oregon, USA
Chiarini Testa Maria Beatrice, Rome, Italy
Cobb Stuart, UK
Cusmai Raffaella, Rome, Italy
Djukic Alekxandra, New York, USA
Elefant Cochavit, Haifa, Israel
Fabio Rosa Angela, Messina, Italy
Garattini Silvio, Milan, Italy
Giannatiempo Samantha, Milan , Italy
Giustetto Maurizio, Turin, Italy
Glaze Daniel, Houston, USA
Green M, USA
Greenberg M, Boston, USA
Hayek Jose , Siena, Italy
Kaufmann Walter, Boston, USA
Landsberger Nicoletta, Milan, Italy
Leonard Helen, Perth, Australia
Lotan Meir, Israel
Mancini Josette, Marseille, France
Mari Francesca, Siena, Italy
Nguyen Gérard, Paris, France
Pineda Mercedes, Barcellona, Spain
Pugliatti M, Sassari, Italy
Rimini Alessandro, Genoa, Italy
Rodocanachi Marina, Milan, Italy
Rothenbuhler Anya, Marseilles, France
Russo Silvia, Milan, Italy
Taruscio Domenica, Rome, Italy
Veneselli Edvige, Genoa, Italy
Vigevano Federico, Rome, Italy
Vignoli Aglaia, Milan, Italy
Villard Laurent, Marseilles, France