1st International Rare and Paediatric Disease Conference - Virtual Event 18-19/11/2021



Opening Remarks and Conference presentation
Ethical and Regulatory framework in RD and Paediatrics
  1. Orphan drugs and paediatric medicines: the current scenario in EU and USA 
  2. Progresses and Gaps in available medicines for rare and paediatric Disease
  3. Patient-centred approach in Research and Ethical Legal Societal Issues 
  4. The revision of both the paediatric and orphan regulations and the possible global impact on the paediatric medicines framework 
Innovative technologies for RD and paediatric research
  1. Pharmacogenomics: exploring pharmacogenetic variability in diseases and target polymorphisms affecting drug disposition and toxicity 
  2. Advanced therapies for genetic diseases 
  3. Orphan Drug Development Guidebook-ODDG a tool to speed up orphan medicines development 
  4. Modelling simulation 
  5. In silico drug repurposing in rare diseases 
  6. The current European and global status of novel biomarkers 
Health Data in RD and Paediatrics
  1. The child health technology frontier in easing paediatric diseases 
  2. The importance of Children and young patient’s involvement in Paediatric and RDs 
  3. The importance of health data: paediatric databases interoperability, real world data, data sharing and data reuse
  4. Guidance on the Impact of EU data protection legislation on the use of health data
Clinical Trials in RD and Paediatrics
  1. The importance of Children and young patient’s involvement/engagement in Paediatric and RDs
  2. Why is it important to be a trained patient?
  3. The pipeline towards patient-centric Research 
  4. The benefits of Patient Reported Outcome Measures (PROMs) and Lay-summaries 
  5. The patient way is the only way to foster Research progress 

#SCIENTISTS4PATIENTS – Open discussion between/a forum for patients and researchers

Fostering patients’ quality of life through the active dialogue with Research

Topic 1 #askthepatient – what gaps should be close to strengthen the bridge between patients and researchers? 

Topic 2 #lemonadefromlemons – Innovative solutions with AI for patients and HCPs/researchers learned during Coronavirus outbreak and benefits of remote assistance in RD and Paediatric patients.

Topic 3 Consultation on Paediatric and Orphan Regulations



Good Practice and guidelines on Rare diseases and paediatric Research in a changing Framework
  1. Global Clinical Trial Network for Paediatric and Rare Diseases: FDA and EnprEMA support innovation and quality in the drug development pipeline for Rare Diseases
  2. The new EU Research framework: how Horizon Europe is expected to encourage Rare and paediatric disease research 
The role of Research Infrastructures (RIs), European Research Networks (ERNs) and European programmes in paediatrics and rare diseases
  1. How EJP-RD can support Paediatric Research and the European Partnerships for RDs 
  2. The role of conect4children (c4c) in development of paediatric drugs and therapies 
  3. Paediatric Medicines Development and role of EPTRI 
  4. The role of ERNs in the European scenario and interactions with RIs 
RD and Paediatric Research during COVID-19 pandemic
  1. Modelling on COVID-19 spreading worldwide
  2. How herd-lock down is impacting on the quality of life of RD and paediatric patients 
  3. How COVID-19 pandemic has been tackled by RD and paediatric patients
Pharma Industries and Public-Private Partnerships in RD and Paediatric framework
  1. Public/Private collaboration supporting rare and paediatric research: PPP initiative and Health PPP Strategic Research & Innovation Agenda 


#SCIENTISTS4PATIENTS – Open discussion between/a forum for patients and researchers

Topic 1: #hottopics in Research:

Topic 2: Two-way feedback loop with patient groups: how to attain a deeper insight into the patient experience

Important Dates

Conference Dates: 18-19/11/2021

Abstract submission deadline: 30/09/2021

Follow us on