ERDERA’s Open Session – 3rd General Assembly Meeting

21 October, 2026 @ 2:30 pm - 5:30 pm CEST
Online event
A special anniversary event showcasing how innovation, collaboration and novel trial methodologies are advancing rare disease research.
Registration

The ERDERA consortium will come together in Coimbra, Portugal, for its third General Assembly Meeting, marking the end of the partnership’s second year and providing an opportunity to review progress, deepen discussions and strengthen collaboration. ERDERA will also welcome the wider rare diseases community to its free Open Session, broadcasted live online.

Dedicated to ultra-rare diseases, the session will share inspiring research and patient stories while examining innovative methodological and regulatory approaches to clinical research and treatment development. It will connect these developments with ERDERA’s work and its commitment to advancing research alongside patients, with the shared goal of improving the lives of people living with rare diseases.

The session is free to attend, but registration is required.

 

Open session agenda

Times are in WEST (Portugal time)

13:30 – 14:15 – Welcome Speeches

  • João Ramalho-Santos, Vice-Rector for Research, University of Coimbra
  • Daria Julkowska, PhD. ERDERA Coordinator, INSERM
  • Dusan Sandor, European Commission, DG Research and Innovation, HaDEA

14:15 – 15:00 – Keynote speech (Remote) – Investigator-Initiated Path to Genetically-Targeted Therapies in Prion Disease: A Patient-Scientist Case Study

  • Pr. Sonia Vallabh, PhD. Director, Prion Therapeutic Science, Broad Institute, Boston MA, USA (remote)

15:00 – 15:45 – Keynote speech (Remote) – “Regulatory Preparedness for the Next Generation of Rare Disease Therapies: Innovation, Evidence and Patient-Centered Development “

  • Julian Beach, Medicines and Healthcare products Regulatory Agency, UK (remote)

15:45 – 16:30 – Keynote speech: European frame work for N-of-1 treatments

  • Annemieke Aartsma-Rus, PhD. Professor of translational genetics. Department of Human Genetics. Leiden, Netherlands

 

Speaker bios

PhD. ERDERA Coordinator, INSERM

Daria Julkowska holds a PhD in molecular biology and completed postdoctoral research in cellular biology at Institut Pasteur (Paris). She also holds an MSc in Research Management (Paris Dauphine) and has extensive training in EU research policy and communication. Active in the rare disease field since 2010, she coordinated the European Joint Programme on Rare Diseases and is currently Scientific Coordinator of ERDERA, a partnership uniting over 180 institutions across 37 countries. She has built large-scale, multi-stakeholder collaborations spanning academia, funders, industry, clinicians, and patients. She chaired a European Commission Expert Group on partnerships and has received major distinctions, including the EURORDIS Black Pearl Award (2020) and the Prix INSERM (2024).

Vice-Rector for Research, University of Coimbra

João Ramalho-Santos is Vice-Rector for Research at the University of Coimbra. Full Professor at the Department of Life Sciences, he teaches and researches Development, Reproduction, Metabolism, Bioethics, Biomedicine and Science Communication. He is a reviewer and editor for over 100 scientific journals and international agencies and has (co-)authored over 200 scientific publications. His h-index is 42 (ISI), and he was recently considered one of the top 2% of influential researchers worldwide. He is the co-author of several comic books or comic book related works for both research purposes and scientific dissemination in partnership with the newspaper “PÚBLICO” or with the national agency for science outreach “Ciência Viva”.

European Commission, DG Research and Innovation, HaDEA

Dusan SANDOR is a senior European policy professional with over 20 years of experience in European affairs, research and health policy. He serves as a Health Research Policy Adviser at HaDEA and previously worked at the European Commission, DG Research and Innovation. Earlier in his career, he was a Diplomat at the Permanent Representation of the Slovak Republic to the EU, specializing in research, intellectual property, and cultural and audiovisual affairs. He also held senior positions within the Slovak Ministry of Culture and served as Press Secretary to the Prime Minister of Slovakia. He holds a degree in International Relations and EU Law from Comenius University, Bratislava, and is fluent in Slovak, English and French.

PhD. Director, Prion Therapeutic Science, Broad Institute, Boston MA, USA (remote)

Sonia Vallabh co-runs a prion research laboratory at the Broad Institute with her husband, Eric Minikel. In 2011, they learned Sonia had inherited from her mother a mutation that causes genetic prion disease, a fatal and currently untreatable neurodegenerative disease that typically strikes in midlife. The pair left their previous careers to devote their lives to biomedical research, earning their PhDs from Harvard Medical School in 2019. At Broad, Sonia works on prion disease drug discovery, focused on lowering prion protein in the brain. She works on biomarkers, natural history and tools to enable clinical trials in at-risk presymptomatic people.

Medicines and Healthcare products Regulatory Agency, UK (remote)

Julian Beach oversees the portfolio that is designed to ensure the quality and access of products to the UK market – this includes scientific advice, licensing assessment, marketing authorisations for all innovative and established medicines.

A committed professional with over 15 years of Director/Board level experience with a broad demonstrated history at Medicines Healthcare Products Regulatory Agency, Novartis, Pfizer and GSK in pharmaceuticals. Flexibly skilled in regulatory, compliance, quality, health and safety, operations with passion for people development with results and improvement focus. Quickly adaptable with strong links to industry and regulatory bodies with country, scientific, commercial and business focuses. Working with industry and regulators to influence legislation to benefit both patients and business. He is a Fellow of the RSC, with an MBA from Henley Business School, adding to BSc (Hons), Chartered Chemist and Chartered Scientist.

PhD. Professor of translational genetics. Department of Human Genetics. Leiden, Netherlands

Prof. Dr Annemieke Aartsma-Rus is Professor of Translational Genetics at the Leiden University Medical Center (LUMC, the Netherlands) and an internationally recognised expert in RNA therapeutics and rare disease research. Her work has been instrumental in the development of antisense-mediated exon skipping therapies for Duchenne muscular dystrophy, and she has played a leading role in advancing personalised treatments for rare genetic diseases.

Alongside her research, Annemieke is actively involved in several international initiatives, including the Dutch Center for RNA Therapeutics (DCRT) and the N-of-1 Collaborative, which support the development of innovative therapies for patients with rare and ultra-rare conditions. She has authored more than 280 peer-reviewed publications, holds multiple patents, and has received numerous awards recognising her contributions to translational genetics and rare disease research. She is also widely known for her commitment to education, scientific collaboration, and bridging the gap between patients, researchers, regulators, and industry.

ERDERA, General Assembly Meeting