React Congress
React Congress
React Congress
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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

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