International Winter School – Rare diseases

Genetics, biomedicine and political challenges 

Program from December 12th to 16th 2022

December 12th

Opening

10-10.30 Isabella Saggio, Sapienza University of Rome

Genetic and cell bases of progeria

Discussant: Romina Burla, IBPM-CNR Rome

10.30-11.45 Chiara Lanzuolo, ITB-CNR, Istituto Nazionale di Genetica Molecolare “Romeo ed Enrica Invernizzi”, Milan, Italy

Role of DNA conformation in human diseases

11.45-13.00 Vicente AndresCentro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC), Madrid, Spain

Hutchinson-Gilford progeria syndrome: from gene discovery to mechanisms and therapies

Genetic and cell bases of Amyotrophic lateral sclerosis (SLA)

Discussant: Alessandro Rosa, Sapienza University of Rome 

14-15.30 Luc DupuisUniversity of Strasbourg, Institute for Advanced Studies, Strasbourg, France

Pathophysiological mechanisms of FUSopathies

15.30-17.00 Simon AlbertiCenter for Molecular and Cellular Bioengineering (CMCB), Dresden, Germany

The role of biomolecular condensates in protein aggregation linked disease

December 13th

Genomic studies for rare diseases

Discussant: Domenico Raimondo, Sapienza University of Rome 

10.00-11.30 Alfredo IacoangeliKing’s College, London, UK

Bioinformatics, Interpretation and Data Quality in Genome Analysis of Genetic Disorders

11.30-13.00 Daniel D’AndreaCardiff University, UK

Application of bioinformatics in the process of new molecular-targeted therapies

14.00-17.00 International Poster Session

December 14th

Genetic and cell bases of Spinal Muscular Atrophy (SMA)

Discussant: Antonio Musarò, Sapienza University of Rome 

10.00-11.30 Fred BernardJacques Monod Institute, Paris

Nucleus positioning in the Drosophila oocyte

11.30-13.00 Claudio Sette Cattolica University, Gemelli Hospital, Rome, Italy 

Gene expression regulation in Spinal Muscular Atrophy: from the molecular mechanism to a targeted therapy

14-15.30 Marika Pane, Cattolica University, Gemelli Hospital, Rome, Italy

The incredible impact of RNA therapies on SMA

15.30-17.00 Enrico BertiniBambino Gesù Hospital, Rome, Italy

Innovative therapies for SMA and their analysis in clinical trials 

December 15th

Political challenges for rare diseases

Discussants: Isabella Saggio, Sapienza University of Rome and Alessandro Rosa, Sapienza University of Rome

10.00-10.15 Sammy Basso, AIProSaB, Vicenza, Italy

10.15-10.25 tbdAISLA, Milan, Italy (to be confirmed)

10.25-10.35 Gloria Antonini Parent Project

10.35-10-50 Silvia di Angelantonio, Sapienza, University of Rome, Italy

Dialogue between patients and scientists: the rare disease Syngap1

11-13 participatory table with Sammy Basso, AISLA, Parent Project, Silvia di Angelantonio, Sapienza University

14.00-17.00 Italian Poster Session and best poster awards

December 16th

10.00-13.00: Exam

14.00-17.00: Course evaluation

Invited Speakers

Information

Website: https://www.uniroma1.it/it/offerta-formativa/summer-and-winter-school/2023/winter-school-rare-diseases-genetics-biomedicine-and

Attendance: classroom Monesi – online Zoom Link

Date: December 12-16, 2022

Application dead line: 5th December 2022

Contacts

For further information fill out the form below, you will be contacted by the administrative secretariat.