EJP RD Funded ERN Training Workshops

The “Research Training Workshop” Call aims at identifying workshop topics to train ERN researchers and clinicians in relevant innovative themes with a cross-ERN added value. Selected applicants will receive financial support by EJP RD for the organization of a 2-days workshop for approximately 20 participants. 
Training themes may include innovative research methodologies, diagnostic research methodologies, interdisciplinary treatment approaches, such as gene therapy and transplantation, etc. Topics have to be proposed by the ERNs or by investigators belonging to EJP RD beneficiary institutions. 

Note: ERN workshops are open to interested persons (clinicians/scientists) affiliated to ERN (European Reference Networks) Full Member or Affiliated Partner Institutions. To see if your institution is part of the ERNs, visit https://ec.europa.eu/health/ern_en and check the list ‘ERN members per country.’




Contemporary outcome measures in neuromuscular diseases

GENERAL INFORMATION ConceptImproving clinical outcomes remains the gold standard in advancing healthcare. The only way to successfully manage care is to measure it. Outcome measurement is used, on the one hand, in clinical practice and…

  • 11:30 - 17:35 (5 March 2022)
  • University Hospital Nice, Pasteur 2 Hospital – Galet, Nice, France (hybrid event: on site and by videoconference)




Trans-ERN Working Group for Spina Bifida (Spinal Dysraphism): Workshop for future research on innovative diagnostics and interdisciplinary treatment

GENERAL INFORMATION Spinal Dysraphism (Spina Bifida) is a congenital malformation that virtually involves all systems in the human organism, requiring more than any other pathology a wide multidisciplinary expertise. Most medical and surgical specialties are…

  • 08:15 - 13:10 (1 April 2022)
  • Centre Hospitalier Universitaire de Rennes (2 Rue Henri le Guilloux, 35033 Rennes, FRANCE)




Endocrine cancer: a challenge in adults and children

GENERAL INFORMATION ConceptThe term endocrine cancer involves, among others, thyroid carcinoma, adrenocortical carcinoma, malignant pheochromocytomas and paragangliomas, and multiple endocrine neoplasia syndromes. The recognized experts will discuss these diseases during the workshop. We focus on…

  • 14:00 - 18:15
  • Maria Sklodowska-Curie National Research Institute of Oncology Gliwice, Poland

Ectodermal dysplasias (EDs) are genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands. They represent 97 rare diseases that are frequently misdiagnosed excluding the main form. Recent advances in clinical diagnosis (new features, new classification) and management (innovative and curative treatment for some manifestations) should be shared. Their multidisciplinary management involves pediatricians, ENT specialists, dentists, dermatologists, ophthalmologists.
Training session for non-expert caregivers and physicians are organized on Friday June 10th 2022 during the 8th international conference on ED in Paris, France.

The workshop will be organised by Giovanni Mosiello , MD, FEAPU, FEBPS, Bambino Gesu Pediatric and Research Hospital, Rome , Italy Department of Urology: Neuro-Urology and Andrea Manunta, MD, FRCS, FEBU , Department of Urology and Neuro-Urology. Centre Hospitalier Universitaire de Rennes,  EUROGEN and ITHACA  EJP RD beneficiary.

Spina Bifida (SB) is a congenital malformation syndrome that requires multidisciplinary expertise.The trans ERN Spina Bifida Workgroup has been created for producing care documents and guidelines for all ERNs involved with the main aim of harmonization of clinical practices for SB patients with EU-wide transnational recommendations for all people with SB. The Workshop will examine how to consider innovative diagnostic tools, new treatments and address future research.

The objectives of this 2 days workshop are to train researchers and clinicians from different ERNs on:

  • Genetic neural tube defects, correlation with Orphacode and post natal outcome
  • TRASCET: transamniotic stem cell therapy
  • Prenatal diagnosis correlating fetal MRI and Ultrasound, with post natal outcome
  • Urinary marker on renal and bladder function
  • Fetal Surgery (different approaches), results on bladder function etc
  • Innovative urodynamic investigation on neurogenic bladder related to spina bifida (Radiomics)
  • Long-term sequelae of continence treatment considering the specific spina bifida patient.

Patient’s represantives will be present during the presentation and discussion of every single topic in order to lead future research considering the special needs of spina bifida patients, their expectations, and then helping researchers to define the correct modalities for research.

ERNs ITHACA, EUROGEN, ERKnet are the main beneficiaries.  The workshop is aimed at researchers

and clinicians involved in spina bifida management: neurologist, neurosurgeon, obstretician, neonatologist, urologist, pediatric urologist, fetal and pediatric surgeon, nephrologist, genetician, epidemiologist, immunologist, etc.

The workshop is open to all ERN researchers: junior or senior researcher or clinician. Junior researchers should be well motivated, involved in an ERN, very active in research and transERN activities are warmly welcome as well as senior clinical researchers (Team Coordinator).

The workshop will consist of both presentations by experts, as well as hands-on sessions, discussing clinical cases or theoretical cross-ERN scientific studies or projects, all of which will train participants and gain practical insights. At the end of the workshop all participants will have gained more knowledge on new promising diagnostic procedures, new treatments defining their feasibility, safety and efficacy for spina bifida patients with a view to developing a trans-ERN multicentric clinical trial based in Europe, according to EU rules respcting ethical and legal requirements, in order to make research findable, accesible, interoperable and reusable for all.

Bone impairment in rare diseases can affect many patients. Indeed, this concerns a vast number of pathologies: constitutional bone pathologies such as osteogenesis imperfecta, achondroplasia or fibrous dysplasia of the bones/McCune Albright syndrome, but also so-called “non-osseous” diseases with bone involvement such as X-linked hypophosphatemic rickets, pseudohypoparathyroidism and genetic renal diseases with specific skeletal lesions (such as cystinosis, hyperoxaluria or Pierson syndrome). Bone impairment is not the first clinical problem in theses rare diseases but has a major impact on patients’ quality of life.
All these diseases require a multidisciplinary team composed of rheumatologists, nephrologists, endocrinologists and neurosurgeons. The study and management of these rare diseases allow the collaboration of national and international experts belonging to three ERNs: ERKNet, BOND and CRANIO.


  • Propose an up to date state of knowledge on rare diseases to develop networking in clinical research in rare diseases
  • Develop innovative approach in rare diseases (CrispR Cas9/gene therapy)
  • How to develop clinical trial in rare and ultra-rare diseases
  • How to adapt a clinical issue to an experimental model
  • How to build a translational project on bone impairment in rare diseases
  • How to conduct clinical trials on rare diseases
    European registries contribution to meet the specificities of rare diseases
  • Experimental research methods/models on bone

Training methodology:

  • State of knowledge
  • Round tables on : state of knowledge / networking / innovative approaches
  • Round tables on : state of knowledge / networking / innovative approaches
  • Clinical trial methodology on rare diseases
  • Clinical cases, concrete examples to discuss
  • Research project/ experiences sharing
  • Patient involvement in choice of research topics, study design and conduct


The study of rare and complex diseases affects the sample size of study population. Indeed, the study of small populations strictly relates to the need to generate bridging data. Low-prevalent and complex diseases as well as the small populations are two great challenges, which rare disease (RD) community is facing by employing powerful in silico predictive methodologies, as those applied in rational drug design, pharmacometrics and modelling and simulation (M&S). Model-based approaches are significantly advantageous for research in small populations. They provide quantitative insights into pharmacokinetics-pharmacodynamics (PKPD) relationships as well as reliable predictions of age-related drug metabolism and toxicities. The implementation of strategies may allow the generation and validation of informative models even with reduced sample sizes. In addition, model-based methodologies give the opportunity to address root causes of drug failure at the early stage and to improve late-stage clinical development productivity, efficiency, and success.  

To increase the global scientific and technological capacity in M&S, CVBF has planned a workshop named “Modelling & Simulation: Research Methodologies for Small Populations in Rare Diseases”. The workshop is aimed at facilitating discussion and exchange of knowledge on the M&S methodologies and strategies as innovative and promising enough for facing complex multifactorial or rare diseases and conditions that require highly specialised treatments and resources. As such, the workshop aims at addressing specific issues on RD for small populations.  

The main beneficiary of such innovative research methodologies is the rare disease community including PhD students, post-doc researchers, senior scientists, young clinicians, investigators and academics.  

The workshop will be an opportunity to outline and disseminate the benefits that M&S innovative research methodology can produce especially in specific and limited populations with a particular attention to RD and paediatric ones, thus promoting active engagements with the research communities, through interchangeable discussion among experts working in different therapeutic areas.  

The workshop will consist of two days with a total of eight hours per day, excluded lunch and coffee breaks. In order to allow and guarantee fruitful and interactive sessions, this workshop will be addressed to a target audience of maximum 25 attendees from ERNs.  

The training methodology will be based on the lectures, seminars, and practical sessions, aimed to provide concrete research skills. Specifically interactive and user-friendly seminars will aim to discuss real-life case studies and introduce specific concepts to deal in the practical sessions, where attendees will have the opportunity to apply knowledge using available databases and software.  

Considering the current health emergency, the training methodology will be possibly reshaped for a virtual edition.  

General information: Increased knowledge of cancer molecular biology and research methods development has enabled the spread of gene-guided treatment of cancer. In FICAN West Molecular Tumor Board’s (MTB) mission is to implement and develop personalized cancer care. The MTB is a monthly multidisciplinary meeting attended by cancer physicians, pathologists, geneticists, clinical chemists, and molecular biology experts. The MTB meeting will address cancer patient cases in which a comprehensive genomic profiling test has been performed on a cancer sample or blood. Based on the molecular changes found in gene profiling, the aim is to obtain more information about the nature of the cancer, to find the optimal drug treatment for the cancer, and to provide an assessment of the possible heritability of the genetic change and the need for further studies. This workshop will address a wide range of current issues related to gene-guided cancer treatment and methodology. The main topics are: comprehensive gene profiling, optimal arrangement of MTBs to support diagnosis of rare cancers and work of clinicians, bringing precision medicine to patients, and artificial intelligence (AI) and developments in pathological diagnostics. The workshop will address multidisciplinary aspects between specialist working in ERN-EURACAN, ERN-PaedCan and ERN-Genturis.

Concept: Introduction to the subject in lectures of session 1 and 2 (Comprehensive gene profiling, Molecular tumor board working). Participant voting during certain lessons. Introduction of patient cases with wide gene profiling in rare cancers (NSCLC (rare subtypes), sarcoma, biliary tract cancer, unknown primaries, hematological neoplasia, others). Patient case processing first in small groups of participants and organizers and after that in simulated molecular tumor board. Deepening knowledge in the lectures of session 3 and 4 (Bringing precision medicine to patients, Artificial intelligence and developments in pathological diagnostics).

Aim: To enable clinicians to bring precision medicine to patients with rare cancers by giving a deeper insight into the methodology of comprehensive gene profiling and the use of AI in diagnostics.

Training venue: Research training workshop at Turku University Hospital (Hämeentie 11, 20521 Turku) and Medisiina D FICAN West Cancer Research Laboratories (Kiinamyllynkatu 10, 20521 Turku); Finland; time: Spring 2022

With the development of genetic tests, clinicians benefit from sophisticated tools in the field of inherited cardiac and muscular diseases. Each identified genetic variation is currently classified thanks to a multidisciplinary team including an accredited biologist, a geneticist and a clinician. Genetic variations in classes 3 and 4 are called “Variations of Unknown Significance’’ (VUS) and “probably pathogenic variations”, respectively. The objective of the present workshop is to describe in vitro and in vivo functional models and their use to better classify variants toward a more conclusive class and to identify new mechanisms and druggable targets.Using CRISPR/Cas9 gene editing or other transgenesis methods, it is possible now to study the direct effects of a genetic variation in the native cellular context. In the present workshop we will present and discuss 3 important model systems: Caenorhabditis elegans, drosophilia and zebrafish.

Theoretical and practical sessions will take place in Lyon at Institut NeuroMyoGène (INMG). INMG is a laboratory of Claude Bernard university, affiliated to CNRS and INSERM. It gathers a community of researchers, engineers, technicians and medical doctors that develop cutting edge fundamental and biomedical research on the neuromuscular and cardiac system. During 2 days, a full array of techniques will be presented including live imaging, electrophysiology, and state-of-the-art CRISPR/Cas9 genome engineering and next-generation DNA sequencing.

Built to protect and preserve the correct functioning of the brain by avoiding the entrance of potentially damaging molecules, the Blood-Brain Barrier (BBB) also prevents small and large therapeutic compounds from efficiently reaching the brain in case of disease. Indeed, the delivery of therapeutics to the brain cells faces many challenges that hinder the development and testing of novel therapies for brain and neurological disorders. Despite this, various strategies are currently being developed to improve the delivery of small and large molecules to the brain.  

The workshop will provide an opportunity to present and discuss the most recent advancements in all aspects of research applied to the BBB: from basic biology and pathophysiology, to clinical and translational research. The workshop will update all participants on the current and future opportunities for the management and treatment of many neurological disease. 

The event is organised in collaboration with the Brains For Brain Foundation and will provide a unique opportunity for BBB experts from different backgrounds to come together and share their experience and ideas. 


  • Show and discuss recent achievements in basic and clinical research in the fields of neurodegenerative disorders and the blood-brain barrier (BBB).
  • Present and discuss the factors that control the entrance into the brain of drugs and other therapeutic agents which may be helpful in treating central nervous diseases.
  • Discuss novel opportunities for basic, clinical and translational research activities on the BBB.
  • Discuss possible collaborations between scientists, clinicians, patient organisations, and private companies.

Oral presentations followed by an open discussion with all participants.

The workshop is aimed at PhD students, researchers, and clinicians of all levels who are involved in brain and neurological diseases and/or in vascular biology.

First week of March 2022