At a glance
08:00–09:00
Registration desk
09:00–10:00
Welcome & Opening speech
10:00–13:30
Session A
Discovery, diagnosis, and disease understanding
11:30–12:00
Coffee break
13:30–14:30
Lunch break & Poster Sessions A & B
14:30–18:00
Session B
Therapeutic modalities and translational science
16:00–16:30
Coffee break
Full
08:00–09:00
Registration desk
09:00–10:00
Welcome & Opening speech
10:00–13:30
Session A
Discovery, diagnosis, and disease understanding
Chairs
Sally Ann Lynch, IERima Nabbout, FRSpeakers
Sally Ann Lynch, IERima Nabbout, FRRomain Alderweireldt, BE — Gems-App: A Patient-Led Web-Based Dynamic Consent Platform For Genomic Data Altruism And Genome-Wide Epistasis Research In Marfan Syndrome and Other Rare Diseases11:30–12:00
Coffee break
13:30–14:30
Lunch break & Poster Sessions A & B
14:30–18:00
Session B
Therapeutic modalities and translational science
Chairs
Chantal Pichon, FRSpeakers
Chantal Pichon, FRJana Stoudemire, USGal Lazarus, IL — From Therapeutic Possibility to Trial Readiness: Building a Translational Pathway for ARID1B-Related Disorder16:00–16:30
Coffee break
At a glance
09:00–12:30
Session C
Clinical trials and evidence generation for small populations
10:30–11:00
Coffee break
12:30–14:00
Lunch break & Poster Sessions C & D
14:00–17:30
Session D
Access, policy, and health systems
15:00–16:00
Coffee break
19:00–22:00
Social event
Full
09:00–12:30
Session C
Clinical trials and evidence generation for small populations
Chairs
Speakers
10:30–11:00
Coffee break
12:30–14:00
Lunch break & Poster Sessions C & D
14:00–17:30
Session D
Access, policy, and health systems
Chairs
Dan O’Connor, UKAnton Ussi, NLSpeakers
Dan O’Connor, UK — Advancing preventive therapeutic strategies as the next frontier in rare disease research and managementAnton Ussi, NLPiotr Kosla, PLMary Wang, IT — Equitable Model of Care Coordination for Rare Diseases: An IRDiRC Task Force Framework15:00–16:00
Coffee break
19:00–22:00
Social event
At a glance
09:00–12:00
Session E
Care delivery and lived experience
10:30–11:00
Coffee break
12:00–13:30
Lunch break & Poster Sessions E & F
13:30–17:00
Session F
Data, platforms, and infrastructure
15:00–15:30
Coffee break
Full
09:00–12:00
Session E
Care delivery and lived experience
Chairs
Speakers
Sharon Terry, US — From Lived Experience to Operating Authority: Building Rare Disease Systems Led by CommunitiesFabienne Dobbles, BEHélène Dollfus, FRMariann Vegh, CH10:30–11:00
Coffee break
12:00–13:30
Lunch break & Poster Sessions E & F
13:30–17:00
15:00–15:30
Coffee break
