Associazione Famiglie COL4A1-A2, the Italian COL4A1-A2 patients association, is excited to announce the 2nd COL4A1-A2 International Conference, in Rome, on February 10th 2025, hosted by CNR – Consiglio Nazionale delle Ricerche. It is a premier scientific gathering that brings together leading clinicians and researchers in the fields of genetics, neurology, and related disciplines to share their latest insights and advancements in the study of COL4A1-A2 syndrome. This conference provides a unique platform for exchanging knowledge, fostering collaboration, and exploring innovative approaches to understanding and managing this rare yet impactful condition. Participants will engage in in-depth discussions on recent breakthroughs, clinical findings, and future research directions, aimed at improving patient care and outcomes.

All the talks will be in English or Italian, with real time translation respectively to Italian and English.

It’s possible to attend the conference in presence and in streaming.

Few seats are available in presence, so we will handle in-presence registration on a first-come, first-served basis until December 18th 2024. Priority will be given to families who are official members of Associazione Famiglie COL4A1-A2. Streaming Registration will be handled till January 31st 2025.

– Date and time February 10th 2025 9AM-6PM CET
– Location CNR-Consiglio Nazionale delle Ricerche
Sala Convegni – Via dei Marrucini, snc Roma

09:30 Welcome greetings – Associazione Famiglie COL4A1-A2 APS
Simona Manodoro and Francesca Manodoro

09:45 Welcome greetings – CNR
CNR

Clinical section:

10:00 Characterization and management of epilepsy in COL4A1/2-related disorders
Simona Balestrini

10:30 Presentation of RENDER: RarE Neuropediatric Diseases Electronic Registry
Enza Maria Valente – Davide Politano

11:00 Building Consensus: Expert Recommendations for COL4A1 and COL4A2-Related Disorders
Diana Tambala

11:30 Coffee break

11:50 UCSF Gould Syndrome Clinic: Year One
Rachel Vassar

Research section:

12:20 Identifying mechanism-based and mechanism-agnostic interventions for Gould syndrome
Douglas Gould

13:00 Phenotypic and genetic overview of mutations in COL4A1 and COL4A2: insights from the French cohort
Stephanie Guey – Thibault Coste

13:30 Lunch buffet

14:30 The collaboration between Associazione Famiglie COL4A1-A2 and Fondazione Telethon
Alessandra Camerini

14:50 FishCOLler: zebrafish COL4A1/A2 syndrome models as a resource to speed up functional validation of emerging variants and search for patho-mechanisms and druggable targets
Marco Tartaglia – Antonella Lauri

15:20 Developing zebrafish models to study COL4A1-related disease
Paul Kasher

15:50 Age-dependent cerebral vascular dysfunction in Col4a1 mutant mice
Scott Earley

16:20 Coffee break

16:40 Modelling cerebral Small Vessel Disease in a dish – towards new treatments
Alessandra Granata

17:10 Developing gene targeted therapies for COL4A1 and COL4A1 related disorders: opportunities and challenges
Patricia Musolino

Conclusions

18:00 End

Moderators: Marina Macchiaiolo, Simona Orcesi, Davide Tonduti

Balestrini Simona Neurologia pediatrica – A.O.U. Meyer, Firenze, Italia

Camerini Alessandra Relations with Patients and Patient Organisations – Telethon, Milano, Italia

Coste Thibault Service de génétique neurovasculaire Hôpital Saint Louis, Paris, France

Earley Scott Pharmachology and Physiology – University of Rochester, NY, USA

Gould Douglas Department of Ophtalmology and Anatomy – Institute for Human Genetics, School of Medicine,
University of California, San Francisco, USA

Guey Stephanie Service de Neurologie, Centre de Référence des Maladies Vasculaires Rares du Cerveau et de l’Oeil, Hôpital Lariboisière, Paris, France

Granata Alessandra Neurology Unit – University of Cambridge, Cambridge, UK

Kasher Paul Manchester Stroke Research Group, University of Manchester, Manchester, UK

Lauri Antonella Molecular genetics & Functional genomics – Ospedale Pediatrico Bambino Gesù, Rome, Italy

Musolino Patricia Center for Genomic Medicine – Massachusetts General Hospital, Boston, USA

Politano Davide U.O. Neuropsichiatria infantile – IRCCS Fondazione Istituto Neurologico C. Mondino

Tambala Diana Center for Genomic Medicine – Massachusetts General Hospital, Boston, USA

Tartaglia Marco Molecular genetics & Functional genomics – Ospedale Pediatrico Bambino Gesù, Rome, Italy

Valente Enza Maria Genetica Clinica e Molecolare delle Malattie Rare – IRCSS Fondazione Mondino, Pavia, Italy

Vassar Rachel Pediatric Clinical Care – Clinical Research – University of California, San Francisco, USA

Registration

Do you want to know more?

CNR - Sala Convegni, Via dei Marrucini, snc
February 10th 2025 9:00AM-6:00PM
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