In the months of May and June 2022, the European Medicines Agency (EMA) recommended granting various forms of marketing authorisation in the European Union (EU) for the following rare disease-targeted therapies: First therapy to treat two types of Niemann-Pick disease, a rare genetic metabolic disorder: Xenpozyme (olipudase alfa), a therapy for the treatment of non-central…
The European, Middle Eastern & African Society for Biopreservation and Biobanking (ESBB) and BBMRI-ERIC are organising the Europe Biobank Week Roadshow 2022 (EBW22) in partnership with the BBMRI ERIC Stakeholder Forum Patient Pillar, BBMRI.it, the Research Translational (IRCCS) Paediatric Bambino Gesù Hospital, and the paediatric network IDEA. The second stop of the EBW22 will be…
EJP RD’s innovative Rare Diseases Research (RDR) Challenges call in partnership with Fondation Maladies Rares was aimed at facilitating and funding collaboration between industry, academia, SMEs, and patient organisations to solve specific research challenges in rare diseases. The second challenge issued under the RDR call was for the development of a delivery system for intranasal administration of biological drugs to neonates. We are glad…
The General Assembly of TEDDY Network will be held online, within a hearing at the Council of Europe this July 7th from 9.30 to 14.00 CEST. TEDDY Network will present some activities (part of which were developed within EJPRD) to be considered as good practices promoting the empowerment of children and facilitating their participation in…
EJP RD is delighted to announce the launch on June 30th, 2022 of the Innovation Management Toolbox (IMT), a free-to-use and curated reference library of resources in rare disease translational medicine that will provide investigators with self-help resources specific to their needs. The database will be maintained actively! Learn about the IMT: https://developpement.ejprarediseases.com/innovation-management-toolbox/ Access the…
Gelareh Emami, a PhD student at the Department of Health Management at Scuola Superiore Sant’Anna, under the supervision of Prof. Giuseppe Turchetti and Dr. Valentina Lorenzoni, is investigating health system resilience in the context of rare diseases. She requests healthcare professionals (Medical doctors, Nurses, Physiotherapists, etc.) involved in the treatment of rare diseases to complete a questionnaire. The results…
A funded networking event « Taking congenital portosystemic shunts (CPSS) to the next level – 2nd meeting of experts » is being organised to improve patient care by addressing controversies in CPSS management focusing on liver nodules, portopulmonary hypertension (POPH), endocrine abnormalities, and the challenges of recommending shunt closure. This event has received funding support from the…
Are you an adolescent aged from 12 to 18 interested in the themes of health, biomedical research, healthcare, and children rights?Are you a patient with a chronic rare disease interested in getting the skills to contribute in developing and shaping research making it more suitable for children?If yes, this paediatric expert patients training workshop is…
The International Consortium for Personalised Medicine is pleased to invite you to the ICPerMed Conference: Prelude to the Future of Medicine, which will provide insight into what future of medicine will look like by presenting concrete examples of personalised medicine approaches and aspects already in practice. The hybrid event (in-person + virtual conference) will take place over…
Diamond-Blackfan anemia is a rare disease characterized by a defect in the production of red blood cells. In a plenary paper published in the journal Blood on May 26th, scientists highlighted a new form of the disease linked to the loss of function of the HEATR3 gene , the product of which chaperones the synthesis…