Full Program
RE(ACT) Congress & IRDiRC Conference 2025
*This program is subject to change without notice at any time*
Times are in CET.
WEDNESDAY, MARCH 5h
Registration desk 8h30 to 10
Opening speech, 10 to 10h30
Session A, 10h30 to 13h30, « Diagnosing rare diseases: from NBS to machine learning »
Chairs: Helen Malherbe (ZA) and Alexander Hoischen (NL)
- Jim Bonham, UK « What can we learn from 60 years of newborn screening and the challenge of genomics? »
- Steven Laurie, ES « From Data to Diagnosis: The Solve-RD Story »
- Vicente Yepez, DE « When the outlier is the signal: RNA-seq based diagnostics of rare disorders »
- Lisenka Vissers, NL « Long read sequencing as first-tier diagnostic test for rare diseases »
- Chris Hendriksz, UK « Diagnosing rare diseases: from NBS to machine learning »
Lunch break and Poster Sessions A & B 13h30 to 14h30
Session B, 14h30 to 17h30, « Empowering data »
Chairs: Lindsey Murray (US) and Ronald Cornet (NL)
- Nicole Vasilevsky, US « Accelerating Rare Disease Treatment: The Role of Data Sharing in the RDCA-DAP »
- Sabine Österle, CH « The Swiss Personalized Health Network- from clinical routine data to FAIR research data »
- Thomas Hellebrand, BE « A Health Data Access Body in the Netherlands: potential for rare disease research? »
- Marieke Bak, NL « Responsible Data Use in Rare Disease Research: An Ethical, Legal, and Social (ELSI) Perspective »
- Patricia Da Silva-Buttkus (Abstract A002) « CHAnging Rare disorders of LysInE metabolism (CHARLIE) – mouse phenotyping in a multidisciplinary endeavor »
- Jernej Kovac (Abstract A004) « Rapid whole genome sequencing in a paediatric intensive care and neonatal unit »
- Simon Lande (Abstract B005) « Applying genetic database analysis to estimate the prevalence of late-onset Fabry Disease »
THURSDAY, MARCH 6th
Session C, 9 to 12h30, « ATMPs: challenges and opportunities of today »
Chairs: Jacqui Beckmann (CH) and Eleni Papanikolou (DE)
- Nick Sireau, UK « Challenges and opportunities for mRNA therapy for rare genetic diseases »
- Tiziana Cremona, CH « Cell specific gene editing as treatment of Alfa 1 Antitrypsin Deficiency »
- Johan Flygare, SE « Developing Novel Therapies for Diamond-Blackfan Anemia (DBA) »
- Despina Eleftheriou, UK « Developing gene and cell therapy for rare inflammatory disorders »
- Rimas Orentas, US « ATMPs: Essential Tools or Essential Medicines? »
- Hanlan Liu (Abstract C001) « Development of precision gene engineered B cells as a treatment for hemophilia B »
- Gérald Perret (Abstract C003) « GNT0004, Genethon’s AAV8 vector-delivered microdystrophin gene therapy for Duchenne muscular dystrophy: dose escalation and preliminary long-term follow-up data of GNT-016-MDYF all-in-one clinical trial in ambulant boys »
Lunch break and Poster Sessions C & D 12h30 to 14h00
Session D, 14 to 17h30, « Impacts of rare diseases on patients, families, and society »
Chairs: Virginie Hivert (FR) and Gareth Baynam (AU)
- Sue Baker, AU « Impact of a Cross-Sector (Inter-Agency) Care Coordination Program for Children and Families Living with Rare and Undiagnosed Diseases (RUDs) »
- Gina Cioffi, US « Can Highlighting the Societal Value of Rare Disease Treatments Lead to Improved Health? »
- Kirsten Johnson, UK « Mental health and rare conditions: an integrated approach to care and research »
- Sofie Skoubo, DK « School absence legislation governing in Norway, Sweden, and Denmark for children with chronic illness in compulsory education—A comparative study »
Social event 19 to 22
FRIDAY, MARCH 7th
Session E, 9 to 12, « Funding models »
Chairs: Daria Julkowska (FR) and Magda Chlebus (BE)
- Nivedita Valentine, UK » Rare & Orphan drugs, Barriers approval to access »
- Irene Norstedt, EU » Investing to shape our future »
- Samatha Parker, FR « Orphan Drugs R&D Productivity and Probability of Success »
- Carmen Fotino, IT « Challenges in aligning funding initiatives in rare disease: Fondazione Telethon experience »
Lunch break and Poster Sessions E & F 12 to 13h30
Session F, 13h30 to 17h, « Drug repurposing in rare diseases »
Chairs: Alexandre Méjat (FR) and Donald Lo (NL)
- Philip Gribbon, DE « Drug repurposing in Rare and Infectious Diseases – lessons learnt from EU projects on how to identify and progress small molecule based therapies to the clinic »
- Catriona Crombie, UK « Challenges and Opportunities for Drug Repurposing in Rare Diseases »
- Lindsay Randall, UK « SLC6A1: A drug repurposing journey »
- Emek Akyurek (Abstract F002) « A Novel Therapeutic Approach for Brody myopathy: A Translational Perspective in Rare Disease Research »
Program updated Merch 7, 2025
