International Winter School – Rare diseases

Genetics, biomedicine and political challenges 

Programme December 12-16 2022

December 12

10-10.30 Opening Romina Burla, IBPM-CNR 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 Andres, Centro 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

Discussant: Alessandro Rosa, Sapienza University of Rome

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

Pathophysiological mechanisms of FUSopathies

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

The role of biomolecular condensates in protein aggregation linked disease

December 13

Genomic studies for rare diseases

Discussant: Domenico Raimondo, Sapienza University of Rome

10.00-11.30 Alfredo Iacoangeli, King’s College, London, UK

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

11.30-13.00 Daniel D’Andrea, Cardiff University, UKApplication of bioinformatics in the process of new molecular-targeted therapies

14.00-15.00 Special Guest Daniela Rhodes Fellow of The Royal Society – MRC Cambridge, UK

Round table

Writing papers and grant proposals

Tips and Tricks to be successful

Daniela Rhodes, Fellow of The Royal Society – MRC Cambridge, UK

Antonio Musarò, Sapienza University of Rome

Alessandro Rosa, Sapienza University of Rome

15.00 coffee break

15-17.30 International Poster Session

December 14

Genetic and cell bases of Spinal Muscular Atrophy (SMA)

Discussant: Antonio Musarò, Sapienza University of Rome

10.00-11.30 Fred Bernard, Jacques Monod Institute, Paris, France

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

December 15

Political challenges for rare diseases

Discussants Romina Burla, IBPM-CNR Rome and Alessandro Rosa, Sapienza University of Rome

10.00-10.15 Sammy Basso, AIProSaB, Vicenza, Italy

10.25-10.35 Gloria Antonini, Parent Project, Rome, Italy

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 AIProSaB, Vicenza, Italy, Parent Project, Rome, Italy, Silvia di Angelantonio, Sapienza, University of Rome, Italy

14.00-15.00 Special Guest Daniela Rhodes Fellow of The Royal Society – MRC Cambridge, UK

Telomeres: a history of women and science

15.00 coffee break

15.30-17.30 Italian Poster Session

17.30 Best poster awards

December 16

10.00-13.00: Exam

14.00-17.00: Course evaluation

Invited Speakers

Special guest

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

Organizers

Isabella Saggio, Sapienza University of Rome

Romina Burla, IBPM-CNR Rome

Antonio Musarò, Sapienza University of Rome

Alessandro Rosa, Sapienza University of Rome

Domenico Raimondo, Sapienza University of Rome

Prisca Ornaghi, Sapienza University of Rome

Programme download

Contacts

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