Full Program
RE(ACT) Congress & IRDiRC Conference 2023
This program is subject to change without notice at any time.
WEDNESDAY, MARCH 15th
Session A, 13h30 to 17, « Diagnostic, WGS, artificial intelligence, new technologies »
- Martina Cornel, NL « Sequencing for early diagnosis in neonatal screening and health care »
- Julia Foreman, UK « DECIPHER – Enabling the sharing of rare disease phenotype-linked variant data for diagnosis and research »
- Clara van Karnebeek, NL « A ‘negative’ exome – what’s next? »
- Pierre-Emmanuel Gleizes, FR « A European network to identify and diagnose ribosomopathies »
- Tudor Groza, UK « Rare disease patient stratification in primary care: Challenges and opportunities »
- Kym Boycott, CAN « Strategic approaches to reduce the diagnostic odyssey »
- Elena Rojano, ES (Abstract A010) « PhenoClinWare: a webserver to explore human pathological phenotypes and expand patient clinical characterization”
- Klary Niezen-Koning, NL (Abstract A003) “A Case database for inherited metabolic diseases as a global, shared educational resource”
Poster Session A 17 to 18
Opening Ceremony, 18 to 19h30
- Welcome message: Daria Julkowska (EJP RD), David Pierce (IRDiRC), Olivier Menzel (BLACKSWAN Foundation)
- Ruxandra Draghia-Akli, USA
- Gareth Baynam, AU « The Rare Care Centre »
THURSDAY, MARCH 16th
Session B, 9 to 12, « Therapeutic Development & precision medicine »
- Marc Dooms, BE & Anneliene Jonker, NL « Devise – ways forward for medical devices for rare diseases »
- Tim Buckinx, BE « The Potential of Wearable EEG & Real-Time AI to Externalize Brain States in Rare and Orphan Diseases: A Disruptive Vision to Improving Lives using Technologies of Today »
- Lucia Pannese, IT « Why Me? Tackling the Challenge of Rare Diseases through Gamification and Enabling Technologies »
- Jose-Alain Sahel, USA « Developing Gene-Independent Approaches for Retinal Dystrophies »
- Paulien Klap, NL « Developing an arm exoskeleton with the Duchenne Muscular Dystrophy community »
Lunch break and poster sessions B & C 12 to 13h30
Session C, 13h30 to 17, « Regulatory science »
- Daniel O’Connor, UK « Evolving regulatory science for rare diseases »
- Anne Pariser, USA “Regulatory opportunities: Facilitating an environment of innovation”
- Kerry Jo Lee, USA – FDA « FDA’s Center for Drug Evaluation and Research (CDER): Considerations in Rare Disease Drug Development and How CDER is Accelerating Rare Disease Treatments »
- Violeta Stoyanova-Beninska, NL « Innovation in Rare Disease Drug Development – early dialogue with the EU regulators »
- Julienne Vaillancourt, USA « FDA’s Center for Biologics Evaluation and Research: Advancing Development of Novel Biologics for Rare Diseases »
- Terence Beghyn, FR (Abstract B008) “Zellweger Spectrum Disorder : individualized research delivered new hopes for patients with PEX deficiency”
- Yustina Puspitasari, CH (Abstract B006) “Arterial thrombosis in Hutchinson Gilford Progeria Syndrome”
- Marjon Pasmooij, NL (Abstract C001) “Centralized and up-to-date data on orphan drugs: the European Medicines Regulatory Database”
FRIDAY, MARCH 17th
Session D, 9 to 12, « Clinical research »
- Marta Alarcón-Riquelme, ES « Heterogeneity of autoimmunity, clinical implications »
- Isabela Batsu, USA « Innovative clinical trial designs for rare diseases »
- PJ Brooks, USA « Beyond “One disease at a time”: Focusing on common molecular etiologies to accelerate rare clinical trial access »
- Andrea Gropman, USA « From biomarker to study to basket clinical trials. Advancing science from the bedside or bench to trials: two models in academia »
- Sunil Rodger, DE (Abstract D001) “The Care and Trial Site Registry: FAIRification of an online database of clinical sites and their facilities”
Lunch break and poster sessions D, E & F 12 to 13h30
Session E, 13h30 to 17, « Gene and cell therapy »
- Guillaume Canaud, FR « Targeted therapy for patients with PIK3CA-related overgrowth spectrum »
- Arjan Lankester, NL « Lentiviral gene therapy in RAG1 severe combined immunodeficiency: experience from the multicenter RECOMB trial »
- Fernardo Larcher, ES « Advances in cell and gene therapy for genodermatoses. A focus in Epidermolysis Bullosa. »
- Carl Morris, USA « AAV-mediated gene therapy in Duchenne Muscular Dystrophy – Efficacy and immune responses »
- Julia Vitarello, USA From Mila to Millions: Opportunities for Individualized Medicines »
- Federica Tiberio, IT (Abstract E001) “In vitro development of a customized noninvasive nanoparticle-mediated gene knockdown approach for Crouzon syndrome”
Social event, 18h30 To be confirmed
SATURDAY, MARCH 18th
Session F, 9 to 12h30, selected oral presentations and “Systems thinking towards access »
- Mary Wang, IT « Operational Description of Rare Diseases – A reference to improve the recognition and visibility of rare diseases »
- Samuel Agyei Wiafe, Ghana « Addressing the Unmet needs of persons living with Undiagnosed and Rare Diseases in Ghana »
- Yarlalu Thomas, AU « Lyfe Languages »
- Stefano Benvenuti, IT « Ensuring access to life-saving gene therapy for an ultra-rare disease: a not-for-profit model »
- Rachel Yang, CN/CH « Nurse, a critical role in RD care delivery and access »
- Anne Parkinson, AUS (Abstract F003) « Delayed diagnosis in three rare diseases: a qualitative study of the experiences of people with myositis, sarcoidosis, and primary immune deficiency in Australia”
Best posters prize & Closing Ceremony
Program updated March 2, 2023
