1st COL4A1-A2 European Conference

1st COL4A1-A2 European Conference2024-11-22T17:39:07+01:00

Associazione Famiglie COL4A1-A2, the Italian COL4A1-A2 patients association, is excited to announce the 1st COL4A1-A2 European Conference, in Rome, on the 19th of February 2024. The Conference is a scientific event that will be hosted by Senato della Repubblica – Palazzo Giustiniani, Sala Zuccari, a 1 full day dedicated to the rare disease caused by COL4A1-COL4A2 gene mutation. The event is opened to clinicians, researchers, families and any other people interested in such gene mutation. Clinicians and researchers who have experience in COL4A1-A2 will meet in order to take stock of what is known about the mutation from both a clinical and basic research point of view, with the aim to lay the foundations for the future cooperation on such syndrome.

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.

Very few seats are available in presence, so we will handle registration requests in person on a first-come, first-served basis. Priority will be given to families who are official members of Associazione Famiglie COL4A1-A2.

– Date and time February 19th 2024 10AM-6PM CET
– Location
Sala Zuccari, Palazzo Giustiniani
Senato della Repubblica, Via della Dogana Vecchia 29, Roma c

09:30 Registration of participants

10:00 Welcome greetings -Institutions
Sen. Marco Lombardo

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

10:15 The phenotypic spectrum of COL4A1/A2-related disorders: a focus on paediatric age
Simona Orcesi
Q&A

10:45 COL4A1 and COL4A2: what the literature tells us
Eleonora Bonaventura
Q&A

11:15 Coffee break

11:30 Molecular genetics of all known COL4A1/COL4A2 diseases
Elisabeth Tournier Lasserve
Q&A

12:00 Molecular genetics of fetal intracranial hemorrhage
Thibault Coste
Q&A

12:30 Research Session:
Establishing foundations for translational interventions
Douglas Gould

Gene therapy for rare genetic vascular disorders: apatient-driven journey in drug development
Patricia Musolino
Q&A

13:30 Lunch buffet

14:30 Neuroimaging aspects: from prenatal to adulthood
Anna Pichiecchio Cecilia Parazzini
Q&A

15:00 Adult neurology session:
Handling genetic cerebral small vessel diseases: care organization in France and collaboration at the European level
Dominique Hervé

15:20 Overview of clinical and neuroradiological features of COL4A1/A2 adult patients
Anna Bersano

15:40 The French COL4A1/COL4A2 cohort: phenotypic spectrum
Stephanie Guey
Q&A

16:10 Coffee break

16:30 Kidney manifestations in COL4A1/COL4A2 related diseases: how to detect and how to treat
Emmanuelle Plaisier
Q&A

17:00 The COL4A1/COL4A2 ocular phenotypic spectrum: the pediatric ophthalmology perspective
Giacomo Bacci
Q&A

17:30 Cardiological aspects highlighted in patients with COL4A1-A2
Giulio Porcedda
Q&A

18:00 End
Moderator: Simona Balestrini

Bacci Giacomo Oftalmologia – A.O.U. Meyer, Firenze, Italia

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

Bersano Anna Unità Cerebrovascolare, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italia

Bonaventura Eleonora Neurologia Pediatrica – Ospedale dei Bambini V. Buzzi, Milano, Italia

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

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

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

Musolino Patricia Center for Genomic Medicine – MGH-Harvard Medical School

Orcesi Simona U.O. Neuropsichiatria infantile – IRCCS Fondazione Istituto Neurologico C. Mondino, Pavia e Università di Pavia, Italia

Parazzini Cecilia Radiologia e Neuroradiologia Pediatrica – Ospedale dei Bambini V. Buzzi, Milano, Italy

Pichiecchio Anna Neuroradiologia – IRCCS Fondazione Istituto Neurologico C. Mondino, Pavia e Università di Pavia, Italia

Plaisier Emmanuelle Department of Nephrology and Dialysis INSERM Hôpital Tenon Université Pierre et Marie Curie Paris, France

Porcedda Giulio Cardiologia pediatrica e della transizione – A.O.U. Meyer, Firenze

Tournier Lasserve Elisabeth Service de génétique moléculaire Neurovasculaire, Hôpital Saint‐Louis, Paris, France – Université de Paris, INSERM Paris, France

Here the Conference video playlist

La conferenza è stata realizzata grazie al contributo liberale di Banco BPM SpA.

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La conferenza è stata realizzata grazie al contributo concesso dalla Direzione generale Educazione, ricerca e istituti culturali.

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