PROGRAM RESEARCHERS AND CLINICIANS TRACK

RESEARCHERS, CLINICIANS, DOCTORS, BIOLOGISTS, GENETICIANS, THERAPISTS AND EDUCATORS

 

Friday 30th October

 

9.00 Opening ceremony

Lucia Dovigo (AIRett), Thomas Bertrandt (RSE), Nues Paige (IRSF)

Welcome remarks

9.20 Update on European policy on Rare Diseases

Update on European policy on Rare Diseases - Veneselli E.

Taruscio D. (ISS Rome, Italy)

9.45 Basic Research 1

Basic Research 1 - D'Esposito M., Ballas N.

Gabel H.W. (Harvard Med. School, USA): Disruption of DNA methylation dependent long gene repression in Rett syndrome

Landsberger N. (Ist. S.Raffaele, Università di Milano): Studying in vitro and in vivo MeCP2 Y120 phosphorylation: novel insights on a multifunctional protein

2 Speakers selected by abstracts

Discussione

11.15 Coffee break

Coffee break

11.45 Basic Research 2

Basic Research 2 - Gabel H.W., Pizzorusso T.

Heidenreich M. (Broad Institute of MIT and Harvard, USA): Crisp Cas systems for MECP2

Ballas N. (Stony Brook University, New York,USA): Glial cells, MECP2 and Rett Syndrome

Huppke P. (University of Gottigen, Germany): Wild-type microglia do not reverse pathology in mouse models of Rett Syndrome

Discussion

13.15 Lunch time & Posters vision

Lunch

14.30 From the Neuroscience research to the treatment

Moderator - Villard L.

Garattini S. (I M Negri, Milan): From the Neuroscience research to the treatment

Leonard H. (Perth, Australia): Evolution and life span today

15.10 Evolution and treatment from childhood to adulthood

Evolution and treatment from childhood to adulthood - Budden S., Zappella M.

Pineda M. (Barcellona, Spain): New methods of diagnosis, protocols and treatments

Wilken B. (Kassel, Germany): Management of Transition

Discussion

16.00 Coffee break

Coffee break

16.30 What we have learned about Epilepsy and Sleep in Rett syndrome

Moderator - Vigevano F.

Glaze D. (Huston, Texas, USA): What we have learned about Epilepsy and Sleep in Rett syndrome

16.50 Focus on Epilepsy

Focus on Epilepsy - Vigevano F., Pineda M.

Nissenkor A. (Tel Aviv, Israel): Update on Epilepsy

Cusmai R. (OBG, Rome): Epileptic and non-epileptic paroxysmal disorders

Vignoli A. (Milan): New and alternative treatments

Discussion

18.10 Genetics

Genetics – Clarke A., Renieri A.

Russo S. (I Auxologico, Milan): Exome sequencing on a cohort of Rett patients

Armstrong J. (Barcelona, Spain): Improving genetic diagnosis using NGS: comparing panell-exomes

Discussion

Saturday 31th October

 

8.30 Pharmacological and genetic approaches 1

Pharmacological and genetic approaches 1 – Villard L., Laviola G.

Green M. (UMass, USA): X chromosome reactivation

Cobb S. (Edinburgh, UK): Gene therapy in Rett syndrome

2 Speakers selected by abstracts

Discussion

10.00 Pharmacological and genetic approaches 2

Pharmacological and genetic approaches 2 - Huppke P., Hayek J.

Ciani E. (Bologna): CDKL5 therapy

Giustetto M. (Turin): Synaptic phenotypes in CDKL5 and MECP2 models insight into signaling alteration

2 Speakers selected by abstracts

Discussion

11.30 Coffee Break

Coffee Break

12.00 Disturbed autonomic nervous system

Moderator - Canevini M.P.

Budden S. (Oregon, USA): Disturbed autonomic nervous system

Veneselli E. (IGG, Genoa): New advances on Emergency assistance: the Clinical Passport

13.00 Lunch time & Posters vision | RSE General Assembly

Lunch time & Posters vision

RSE General Assembly

14.30 Advance in assistance and complex problems: Care and Prevention

Advance in assistance and complex problems: Care and Prevention – Micaleff-Roll J., Papoff P.

Kendrick A. (Bristol, UK): Breathing problems and their diagnosis

Chiarini Testa M.B. (Rome): Breathing problems and their management

Canevini M.P. (Milan): Epilepsy management in complex disabilities

Rimini A., Mancardi M.M. (IGG, Genoa): Cardiological prevention and drug interactions

Cefalo G. (Milan): Update on Nutrition with aging (vit D deficiency, supplements, etc.)

Discussion

16.30 Coffee break

Coffee break

17.00 New insight in Cognition and Communication

New insight in Cognition and Communication – Leonard H., Leuzzi V.

Djukic A. (New York, USA; Belgrad, Serbia ): Cognitive empowerment on communication

Fabio R.A. (Messina): On the bridge between neurological and psychological factors: TdCS and cognitive empowerment

Discussione

17.50 Movement Disorder: Evaluation and Rehabilitation

Movement Disorder: Evaluation and Rehabilitation – Budden S., Rodocanachi, M.

Leonard H. (Perth, Australia): Motor development: new frontiers for walking activity evaluation

Lotan M. (Israel): Rehabilitation: advances and new trials

Discussion

Sunday 1st November

 

9.00 The point on Clinical Trials: from scientific background to results and how to change the care

The point on Clinical Trials: from scientific background to results and how to change the care – Villard L., Clarke A.

Kaufmann W. (Harvard Med School, USA): IGF1

Glaze D. (Texas, USA): NNZ-2566 NNZ-2566: a novel, experimental treatment

Djukic A. (Bronx, NY, USA): Copaxone results and statins launch

Ben Zeev B. (Tel Aviv, Israel): Neuroimmunology and Copaxone in different trial

Mancini J. (Marseille, France): Desipramin and cardio-respiratory variability

Rothenbuhler A. (Paris, France): Trofinetide on Osteoporosis

Hayek J. (Siena): EPI-743

Nguyen G. (Paris, France): Rethinking the future of clinical trials in Rett Syndrome

Discussion

12.00 Update on European Database

Moderator - Leonard H., Hayek J.

Mari F. (Siena): Update on European Database

Eurodis and RSE Speakers: Supporting research today- Relatori di Eurodis and RSE

12.50 Meeting for conclusions by experts

Conclusive considerations by experts on research

Conclusive considerations by experts on clinics

Conclusive considerations by experts on rehabilitation

13.50 - 14.00 Closing and aperitif

Closing and aperitif

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