See report here

Primary sclerosing cholangitis (PSC) is a rare disorder characterized by inflammation and fibrosis of the intra- and/or extra-hepatic bile ducts. PSC leads to cirrhosis, liver transplantation or death in most patients. It is associated with a greatly increased risk to develop hepatobiliary malignancy. To date, there is no therapy for this dreadful disease with a proven benefit on disease progression or tumor development. The pathogenesis of PSC is incompletely understood. Therefore, PSC represents a major unmet clinical need in the field of gastroenterology and Hepatology. 

In order to promote the engagement of young investigators into PSC research and to strengthen the collaboration between existing networks engaged in PSC research, specifically the International PSC Study Group (IPSCSG) and the European Reference Network on Hepatological Diseases (ERN RARE-LIVER), we will host a joint workshop for young investigators on basic science and translational immunology in PSC research. The workshop was supported by the Clinical Research Unit 306 (CRU 306), Hamburg, and is open to members of other ERN involved in the respective topic. 

The aims of this workshop were to understand the pathogenesis of PSC, foster networking between basic and clinical scientists as well as between ERNs involved in rare autoimmune and liver diseases (RARE-LIVER, Transplant Child and ERN RITA), and to share knowledge and pool resources between ERNs and IPSCSG. It presented a forum to discuss ongoing research projects between international participants. 

See report here

Regenerative Medicine aims to address unmet medical needs by combining our body’s own repair abilities with innovative engineering. 

This technology opens new opportunities for use in urogenital disease. Tissue engineering was adopted by the surgical specialties early this century. One of the first lab-grown organs transplanted into humans was an engineered bladder developed in 2006. Unfortunately, despite initial enthusiasm from both urologists and patients, the lab grown bladder failed to significantly improve bladder compliance, capacity, or detrusor pressure in a phase II trial. 

A major challenge when considering tissue engineering approaches is understanding key properties of the native tissues. An important example where the biomechanics of the native tissue was largely ignored was the introduction of PolyPropyLene (PPL) meshes when treating Pelvic Organ Prolapse (POP). The meshes can cause severe complications (e.g. acute and chronic infections and tissue erosion) and as such are now banned by the FDA for this application. 

These two largely failed attempts to use materials and tissue engineering to treat urogenital disease, left clinicians AND patients with disillusion and an unmet medical need. Our workshop will acknowledge this setback and look out at new developments and technologies to overcome the disillusion and move forward as there is a clear and urgent need for novel biomaterials and functional meshes. The topic was ideal to bring the different stakeholders (patients, clinicians and basic scientists) and different research communities in complex urogenital diseases toge 

See report here

DT is defined as a rare benign monoclonal fibroblastic proliferation that arises in soft tissue. They sporadically occur, but 5–20 per cent arise in association with FAP. The incidence of DT is 800-fold to1000-fold higher in patients with FAP than in the general population. Thus, 10–25 per cent of patients with FAP will develop at least one Desmoid Tumour within their lifetime. Desmoid when occur in abdominal cavity is the primary cause of death after colectomy by infiltrating and obstructing nearby structures. 

Contrary to sporadic desmoid tumors whose management has better been defined over the last 10 years the complexity of  DTs treatment in FAP patients still requires to be optimized. 

Several open question about different topics in FAP-related DTs remain to be clarified: 

• Risk prediction and prevention (genotype-phenotype correlation, open vs. laparoscopic preventive surgery) 
• Diagnosis (radiological vs. histological) 
• Treatment strategy (watchful waiting strategy vs. active treatment) 
• Quality of Life 

This workshop aimed to promote further studies and researches on this topic. 

To date, medical treatment (e.g. chemotherapy or immunological therapy) is preferred to surgery, because the surgical trauma is a well-known risk factor of developing further DTs. The medical treatment is based on DTs’ histology; however, a percutaneous biopsy of intra-abdominal DT is not always feasible and a surgical procedure is necessary. 

The creation of a software combining radiological imaging and genetic data, which predicts the nature of intra-abdominal masses in FAP patients would be pivotal in their management and extremely useful for ERN physicians. 

The Workshop aimed to promote networking in the context of two ERNs, EURACAN and GENTURIS, thanks to their mutual focus on DT in FAP, a solid tumor which is both rare and associated to a genetic condition. 

See report here

In the context of EJP RD’s ERN Workshops, a workshop on “on Fetal and Postnatal multidisciplinary management in Rare Diseases – Myelomeningocele (MMC) and Lower urinary tract obstruction (LUTO)” was organized by Giovanni Mosiello, Rafal Chrzan, Jean Marie Jouannic, and Giovanni Montini. 

This workshop was addressed to healthcare providers working together with ITHACA, eUROGEN and ERKNet: Foetal surgeon, neonatologist, nephrologist, neurosurgeon, obstetrician, radiologist, paediatric urologist who are involved in the management of MMC and LUTO might be interested to participate in this event. The workshop might have been of a great value for all ERN researchers. 

See report here

After more than 20 years of Hereditary breast and ovarian cancer (HBOC) research in Latvia it has been confirmed that at least 5% of unselected breast cancers and 15% of unselected ovarian cancers cases are BRCA1/2 germline pathogenic variant carriers. However, in around 50% cases of HBOC specific family cancer history turned out to be absent and it is impossible to identify cancer free high-risk persons following only traditional diagnostic pathways. Accordingly, HBOC genetic population screening (GPS) is the only way to identify considerable proportion of presymptomatic high risk individuals in order to reduce the proportion of advanced stage breast and ovarian cancers, mortality form this rare disease and the related public spendings. HBOC GPS should be considered as an innovative approach as it has not been introduced in any particular region of Europe so far and there are many psychological, molecular and administrative aspects to be clarified. 

Moreover, in 2022 PSCUH ERN GENTURIS team in collaboration with Riga Stradins University launched the HBOC GPS feasibility pilot project to evaluate the optimal genetic testing strategy and psychometric evaluation of the participants. 

The aim of this workshop was to educate researchers and clinicians on Psychological, molecular and administration aspects of HBOC GPS 
Participants and speakers involved representatives from several ERN GENTURIS partners, including, but not limited to Latvia, Estonia, Lithuania, Poland, Netherlands and Norway. 

Accepted for funding, but later cancelled

The workshop was meant to be on a research method previously developed (“Training in genetics and genomics for primary health care workers”, Dr. E.J.F. Houwink) on how to design and assess effectiveness of a blended training with a focus on rare diseases based on prioritized educational needs, taking hemoglobinopathies as an example. 

During the workshop we wished to explain how to design studies on how to develop training on rare diseases based on exploration and consensus on the role of different rare diseases taking hemoglobinopathies as an example and a blueprint for educational needs on rare diseases as they are perceived by medical care providers, patient advocacy groups and (non)clinical genetics professionals in secondary care. We aimed to submit preliminary research results in an international journal (EJHG), entitled “Exploring and prioritizing future rare diseases education in primary care, taking hemoglobinopathies as an example” and let them serve consecutive steps in our research project Raising awareness for Sickle Cell Disease in Primary Health Care and refer to this workshop held by EJP RD. As stated above, this project is raising awareness for SCD in PHC with two manners of interdisciplinary education and eHealth. the methodology described above could be used by different ERNs for different rare diseases and the blueprint could serve to develop blended trainings on other rare diseases than hemoglobinopathies. We hope we explained the impact the workshop could have on future research on evaluating the effectiveness of the blended trainings on learnt competences. With regards to research on implementation, in the near future we wish to study effectiveness of referrals, but also patient satisfaction with the help received by their primary care professionals, blended care effectiveness on using the flowchart on how the PHC is guided through timelier diagnosing hemoglobinopathy carriers and therefore improved health care of patients with hemoglobinopathies and improved cost effectiveness of people with rare diseases in general. 

See report here

Precision medicine is an emerging approach for disease treatment and prevention that accounts for individual’s clinical, physiologic, genetic and sociodemographic characteristics to provide more accurate prediction of disease course and therapy response. 

Monogenic diabetes is an example of how precision diagnosis leads to improvement of disease treatment through genetic testing and Maturity Onset Diabetes of the Young (MODY) is a recognized model of functional precision medicine in clinical practice. However, there are many other rare diseases that could benefit from this aproach. 

This workshop aimed to explore the following: 

• concept of precision medicine 
• clinical implications of genetic diagnosis 
• the case of monogenic diabetes as a learning point to precision medicine 
• application of precision medicine in other rare genetic diseases 
• the challenges of precision medicine in clinical practice 
• research projects of precision medicine applied in other rare diseases 

A final objective was to promote discussion in work groups and stimulate the elaboration of a future research project of precision medicine application and evaluation of its benefits. 

The workshop was aimed at PhD students, clinicians, geneticists and molecular researchers who are involved in rare genetic diseases. 

See report here

Advances in gene therapies are completely changing the possibilities we used to have to deal with devastating rare neurological disorders and dramatically changing our expectations regarding outcomes in these patients. More than 50 gene therapies could be in the clinical ground in the next 10 years, but there are still lots of uncertainties and challenges we need to cope with. The aim of this course was to discuss known barriers, challenges, and uncertainties in gene replacement therapies including the vision of different stakeholders (basic researchers, clinicians, patients, regulators, payers, and industry). The course was divided into two days in which we dealt with different bottlenecks. On the first day, we reviewed the state of the art in therapy development and problems of the current viral carriers, and possible solutions. On the second day, we discussed the problems related to clinical implementation and safety. 

See report here

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 provided 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 updated all participants on the current and future opportunities for the management and treatment of many neurological disease.  

The event was 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.  
The objectives were the following: 

• 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. 

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

See report here

Regenerative medicine and tissue engineering provide strategies to regenerate untreatable diseased organs by either replacing/mimicking the damaged tissues and cells, or boosting their self-healing capacities and modulating the immune response. These topics are at the boundary between RD research and therapy, bridging the scientific advances to the industrial enterprise realm hence ultimately to patients’ bedside. Bone-muscle regenerative strategies include advanced therapies based on stem cells and derivatives, cell reprogramming, immunoregeneration, innovative biomaterials and nanotechnologies, 3D bioprinting and manufacturing techniques. 
This workshop aimed to improve the knowledge and competences on up-do-date regenerative medicine and tissue engineering technologies exploited in the design of advanced therapies for rare diseases affecting skeletal muscles and bones. The topic covers both advanced therapies already in clinical trials and innovative strategies undergoing translational research that merges contributes from a wide range of scientific areas and frontiers technologies. 

The workshop was suitable for the entire ERN community, and brought different professional profiles at the same roundtable, to learn, practice, discuss and share needs, tools and ideas, fostering novel shared paths of development in the RD ecosystem: 

– medical therapies benefit from regenerative medicine and tissue engineering to sustain the functional status of tissues and improve drug efficacy. 
– surgical therapies may implement non-invasive approaches provided by innovative nanotechnologies, 
– PAOs bring the patients perspective and improve their knowledge by keeping up with technological advancements. 

Representatives from ERN-CRANIO and ERN-ReCONNECT partners were involved, including patient advocacy associations with a wide and diversified target audience (PhD students, postDoc, researchers, clinicians, resident fellows, specialized paramedics).

See report here

Concept
Inherited retinal dystrophies (IRDs) constitute a heterogeneous group of retinal diseases that cause the progressive loss of vision. Genetics of IRDs is very complex making difficult to find the specific mutation, as well as the correct treatment for most of these diseases. Several therapeutic approaches have been developed in order to stop (e.g. gene therapy), slow down (e.g. neuroprotection) retinal degeneration or restore visual function (e.g. artificial devices). The advance of knowledge of IRDs includes implementing diagnostic/diagnosis tools, searching for new effective therapies, transferring basic research to clinical practice, and raising public awareness of IRDs existence. These objectives require the joint and coordinated work of basic researchers, ophthalmologist, neurophysiologists, social workers, patient associations and public administrations.

Aim
The workshop will give an update on basic and translational research related to new therapeutic approaches for IRDs. It will bring together European experts and trainees to improve the training of young researchers on IRDs and latest therapies. Participants and speakers will involve representatives from ERN-EYE partners and non-ERN-EYE partners. The workshop will be perfomed in English and delivered by basic researchers, ophthalmologist, patients.  It will facilitate collaborations and exchange of ideas between attendees.

See report here

Concept: Epidermolysis bullosa (EB) is a group of genetic disorders that manifest with fragility of the skin and mucous membranes, and with involvement of extracutaneous organs. EB is a prototypic disorder for which advances in genetics and clinical research enabled the development of gene therapy and of other pathogenesis-based treatments.

Aim: The workshop will deliver expert knowledge on the following aspects of EB: clinical and genetic basis, wound and interdisciplinary management, how to design and conduct clinical trials, gene therapy, and models used in translational research. The aim is preparing the next generation of EB researchers.

See report here

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 involved in SB management and the expertise required spans among different ERNs.

Concept
The workshop will examine how to consider innovative diagnostic tools, new treatments and address future research on Spinal Dysraphism promoting discussion and exchange among researchers and clinicians from different ERNs.

5 areas of discussion have been identified:

• Genetic of neural tube defects
• Prenatal diagnosis: fetal MRI and Ultrasound, Amniotic Urinary markers of renal function, post-natal outcome
• Fetal Surgery
• Noninvasive tools in the diagnosis and follow-up of neurogenic bladder and SD as urodynamics, Radiomics, Urinary biomarkers
• Long-term sequelae of continence treatment considering the specific spinal dysraphism patient

Patient representatives will be present during the presentation and discussion of the different topics in order to focus future research on the unmet needs of spina bifida patients and on patients expectations.

Aim
To share participants expertise on research in different areas of Spinal Dysraphism and open the way to new research projects

See report here

Concept
Improving 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 in the other hand, their use in the clinical trials aims to demonstrate the effect of a treatment and/or therapeutic technique from a clinical point of view in order to justify the use of this treatment. For these reasons, the overall objective of the workshop is to focus on all existing outcome measures used in neuromuscular diseases. lt will consist of both presentations by experts in the field of neuromuscular diseases as well as interactive panel discussions and quiz sessions to train participants in performing and interpreting these outcome measures.

Aim
In recent years, digital biomarker development has begun integration into translational and clinical research. An increasing number of industry and academic investigators are at the leading edge of a new wave of innovations. This workshop aims to deliver participants a training focusing an innovative aspects by presenting the advancement of technologies with digital outcome measures. Participants will be trained in how to make the methodology evolve and how digital biomarkers could be considered as a complementary approach to current approaches for outcome capture. Digital biomarkers allow to directly collect the data about health or disease management through digital health technologies to explain influence, and/or predict health-related results. They span a broad range of diagnostic and prognostic measurements that are frequently made outside of the clinical environment using home-based connected products including wearable, implantable, and ingestible devices and sensors. They offer the possibility to overcome many of the limitations of the traditional outcome measures and offer unique advantages like scale, cost, capture frequency, data volume, measurement objectivity, setting captured, and engage patients. This workshop also delivers a cross-cutting training: the digital biomarkers have wide range of applications in healthcare, with devices built for dermatology, nephrology, inflammatory diseases, metabolic diseases, cardiology, neuromuscular diseases.

See report here

Increased knowledge of cancer molecular biology and research methods development has enabled the spread of gene-guided treatment of cancer. In many hospitals Molecular Tumor Boards (MTB) function to implement and develop personalized cancer care. The MTB is a multidisciplinary meeting attended by cancer physicians, pathologists, geneticists, and molecular biology experts. This Workshop will focus on optimal organisation of MTBs to support diagnosis of rare cancers and the work of clinicians. The meeting will address cancer patient cases in which a comprehensive genomic profiling test has been performed on a solid cancer tumor 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 genetic changes and the need for further studies. In addition, the workshop will address a wide range of current issues related to gene-guided cancer treatment to increase physicians´ and researchers´ awareness on this matter. The Workshop will address multidisciplinary aspects between the work at ERN EURACAN, and GENTURIS.

Concept A workshop with a small group (20) of European specialists sharing a specific interest in developing and implementing comprehensive gene profiling and molecular tumor board activities in diagnosis and treatment of cancer patients. The 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 changes and the need for further studies. The Workshop will consist of presentations by experts in the field and deal with patient cases that the participants are encouraged to present and bring with them for discussion. Current stage of DRUP-like clinical studies in Europe and Nordic countries will be discussed during the event.

Aim The aim of the meeting is to increase physicians´ awareness on the possibilities of comprehensive genomic profiling in gene-guided planning of modern cancer treatment. The Workshop will address multidisciplinary aspects between specialist who are working in ERN-EURACAN and GENTURIS.

See report here

Concept
The study of rare and complex diseases affects the sample size of the study population.
Undoubtedly 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 the 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.

Aim
The workshop ‘Modelling&Simulation: Research Methodologies for Small Populations in Rare Diseases’ 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.

See report here

Concept
Cardiomyopathies and channelopathies are severe and misunderstood diseases that affect
millions of patients worldwide. More than a thousand pathogenic variants have been
identified in numerous genes, indicating that diverse molecules and pathways cause these
diseases. These pathogenic variants are often ‘private’, i.e. family specific. Genotype
interpretation is still challenging in the surge of so-called variants of uncertain significance.
The exploration of the genetic characteristics of an individual is an essential step to allow the
precise identification of patients at risk of sudden death by risk of arrhythmia or cardiac
deterioration. The discovery of the mechanisms leading to fibrillatory and degenerative
processes is able to identify new molecular therapeutic targets.

Aim
Presentation of functional explorations of the variants of interest identified using the
Drosophila, C.elegans, Zebrafish and iPSc models to understand the molecular bases of
genetic diseases, in particular heart and muscle diseases.

See report here

Concept
Bone impairment in rare diseases can affect many patients. Indeed, this concerns a vast number of pathologies: constitutional bone diseases 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 and hyperoxaluria among others). Bone impairment is often not the main clinical problem in these rare diseases but has a major impact on patients’ quality of life.

All these diseases require a multidisciplinary team composed of rheumatologists, nephrologists, endocrinologists, orthopedists, neurosurgeons, geneticists, radiologists, pediatric and adult specialists. The study and management of these rare diseases imply the collaboration of national and international experts belonging to three ERNs: ERKNet, BOND and CRANIO.

Aim
This workshop aims to give an update on translational research on bone impairment in rare diseases and bring together experts and trainees to facilitate collaborations.

See report here

Concept
The 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 the current knowledge and EBM (evidence-based medicine) criteria, contemporary trends in diagnostics and treatment, differences in approach between adults and children, molecular background – possibilities of the personalized therapy, multidisciplinary management – an up-to-date approach.

Aim
The workshop aims at giving an update on molecular background and clinical management of rare endocrine malignancies.

See report here

Psychosocial needs play an important role in rare diseases. There are common burdensome and stressful events that many patients with a rare condition encounter, which are different from patients with a more common disease. Unfortunately, due to the large amount of knowledge gaps in rare disorders, there is often little room to put psychosocial topics or quality of life on research agendas. Much of the research funding goes to etiology, genetics, and treatment and care. However, many of the rare disease patients will not be able to benefit from these research outcomes in this lifetime. Currently, there is an urgent call from international and national patient organizations to reduce psychosocial vulnerability in rare diseases. Now that it has become increasingly clear that there are substantial psychological care needs in rare diseases, insights for adequate support are lacking. The current workshop focuses on uniting European expertise on psychological support in rare diseases and to develop future research goals to support as many rare disease patients and families as possible.

Aim
The aim of this workshop is to raise awareness for the psychosocial impact of having a rare disease and form a group of researchers in the mental well-being and social sciences domain for rare diseases.
Together with you and other different stakeholders we will discuss future perspectives of rare diseases and how to be ‘RareTogether’!

See report hereThe main objective of this workshop is to demonstrate the benefits of adopting the Advisory Committee for Therapeutics (ACT) model in rare disease communities, orientated around the European Reference Network groupings (and sub–domains) and to communicate best practices in this respect from the neuromuscular field. Participants will be given dedicated space and time to discuss and explore the feasibility of creating an ACT within their own disease domain and/or between disease domains.   

Context for this workshop 

The neuromuscular trial-readiness network TREAT-NMD established the TREAT-NMD Advisory Committee for Therapeutics (TACT) in 2009. The TACT model centres on a multi-disciplinary panel of experts who provide independent and objective advice on the development pathway of therapeutic programs in neuromuscular diseases. This is a much-needed resource, as many manuscripts on potential therapies for neuromuscular diseases have been published, but very few of these therapies have moved forward into successful clinical trials. TACT provides a unique resource and educational tool to the neuromuscular community that helps to bridge the gap between promising preclinical data and successful clinical trials. 

The TACT model was developed originally for the neuromuscular field and has proven to be a key resource in the quest to optimise the planning and execution of early stage and later phase clinical research in this community. However, the model itself is readily transferable to many other rare disease areas, and this is one of the goals of the EJP RD (namely, taking assets proven to add-value in one field or community and deploy to others). Newcastle University has developed the Advisory Committee for Therapeutics (ACT) toolkit through the EJP RD, in compliance with the EJP RD mission of expanding good practices and innovative assets to other rare disease communities through Pillar 4 activities. The aim of the toolkit is to provide other rare disease networks with procedural advice and template documents to set-up their own ACT. The toolkit will be made available via the Innovation Management Toolbox, a virtual library of self-help resources, which will be made available to all on the EJP RD website. This workshop has been designed to give attendees the opportunity to learn more about the ACT model and the lessons learned from its deployment over the past decade in the neuromuscular field, and will provide the opportunity to explore adopting the ACT model within additional rare disease communities, organised along the lines of the ERNs.  The participants will discuss the added value of such a model in supporting ERNs to achieve their research priorities and will consider opportunities for cross-ERN collaboration.   

The aims of the workshop are: 

• For participants to gain an in-depth understanding of the ACT model 
• Provide a forum for participants to engage with experienced TACT reviewers from the neuromuscular field, to bring the model to life and allow participants to gain an insight into the added value an ACT could bring to their field 
• Encourage participants to scope-out opportunities and challenges in adopting an ACT within their network’s disease area, and explore the practical steps they would need to take to do so 
• Encourage participants to consider and scope-out the possibility of collaborating across and between disease domains   

Expected Outputs: 

This workshop aims to provide participants with an in-depth understanding of the ACT model. Participants will be given the opportunity to explore the feasibility of developing an ACT within their ERN domain and/or between ERNs. By the end of this workshop, participants will have scoped-out the following: 

• Disease areas to prioritise  
• Potential for cross-collaboration between ACTs, where experts’ skills are transversal   
• Funding opportunities to pilot an ACT within the EJP RD funding period  

• Related initiatives ACT could engage with – how does an ACT compliment the wider field of EJP RD mentoring, early dialogue support, etc 

See report here

The Intranodal Magnetic Resonance (MR) Lymphangiography Studies Workshop is a unique opportunity to learn how to perform this innovative technique and interpret its findings in order to stimulate the initiation of scientific studies for the benefit of rare disease patients with lymph flow anomalies. 

Concept: Face to face workshop with a small group (20-25) of European specialists with specific interest in developing and implementing MR lymphangiography.  

Aim: to learn about lymph anatomy and physiology as well as diagnostic and therapeutic options available for rare disease patients with lymph flow disorders (lymphatic malformations, lymph edema, Noonan syndrome and several others), with a specific attention to the innovative intranodal MR lymphangiography technique. This workshop will be an opportunity for participants to network and get acquainted with each other in order to collaborate in clinical and preclinical research studies involving this technique. 

See report here

Research on rare conditions can be a great challenge, both practical and methodological. To counteract small study populations with a rare disease, large, collaborative, international datasets and registries are currently being erected for multiple disease groups. Analyzing, and subsequently drawing conclusions based on these datasets requires knowledge of the appropriate epidemiological techniques. In this workshop, we will provide participants with the theoretical and practical knowledge needed to perform clinical epidemiological analyses appropriate for the emerging landscape of European, and ERN based large datasets.

Concept
Face to face workshop with a small group (20-25) of European specialists with specific interest in Clinical Research with databases.
It will consist of both presentations by experts in the field of Epidemiology as well as a feedback session on the research projects of participants. Suggestions for cross-ERN scientific studies will be discussed and start-ups will be encouraged during the event.

Aim
To enable clinical researchers of all career stages to plan, perform and analyze large datasets in an appropriate manner, taking into account characteristics of research in rare diseases.

See report here

Concept
Inborn errors of immunity (IEI) manifest as increased susceptibility to severe and/or recurrent infectious diseases, autoimmune or auto-inflammatory conditions, atopic manifestations, and malignancies. More than 450 IEI have been discovered, especially within the past decade thanks to high throughput sequencing methods, exome sequencing (WES), and whole genome sequencing (WGS). However, the diagnostic yield for such disorders still remains low and varies between 20-70%. Moreover, the demonstration that the rare detected DNA variants are the cause of the IEI poses challenges. To address these challenges and educate young researchers and clinicians working in the field of immune mediated disorders and IEI, the Genetics Working Party (WP) of the European Society of Immune Deficiencies (ESID) together with the molecular testing working group (WG) of ERN RITA organize this workshop where new technological developments as well as functional tests and strategies that proof DNA variants are causal will be discussed. In addition, patients’ perspective will be addressed. Together with experts, participants are expected to discuss/present their own challenging cases.

Aim
To educate young researchers and clinician which technics and functional tests available and appropriate to solve challenging clinical cases.

Concept

In this workshop we would like to give a state-of the-art overview on clinical and molecular aspects of rhabdoid tumors.  This refers both to clinical aspects of treatment but also to basic biology and underlying genetics. In three different working groups, we will elaborate on key aspects of RT and summarize these data at the end of the workshop.

Aims:

• To elucidate the current, clinical standard of treatment in rhabdoid tumors
• Discuss current controversies in the rhabdoid tumor regimens
• Identify promising molecular targets in RT and patients that benefit from early clinical trials
• Update on the molecular working techniques to characterize rhabdoid tumors and efforts to identify other (epi)genetic drivers than SMARCB1

Concept
Ectodermal dysplasias (ED) are rare and orphan genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands (new definition, Wright et al, 2019). ED group gather around 100 diseases. New definition and classification as well as management and new perspectives in care should be shared with the clinical and research community. For that reason, we propose a specific training course during the 8th international conference on ED.

Aim
Inform and train participants in basic and practical aspects on Ectodermal Dysplasias (ED) and Incontinentia Pigmenti (IP) with specific focus on recent research update research and innovative care.

Accepted for funding, but later cancelled

See report here

Concept
GATA2 is a key transcription factor critical for ontogenesis of haematopoietic system, including hematopoietic stem cell (HSC) activity and self-renewal, myeloid and myelo-erythroid progenitor cell differentiation, and erythroid precursor cell maintenance. In the past decade, heterozygous germline GATA2 mutations have been identified in a number of cohorts with cellular deficiencies (immunodeficiency syndromes initially referred to as MonoMAC syndrome, DCML deficiency, Emberger syndrome, chronic neutropenia), and in patients with familial MDS and acute myeloid leukemia (AML), as well as pediatric MDS. To date, approximately 150 unique GATA2 germline mutations have been identified in roughly 550 patients. Summarizing published cohort studies and smaller case series, approximately 75% of GATA2 mutation carriers develop myeloid neoplasia at an estimated median age of 20 years. The disease spectrum includes primary pediatric MDS, AML, chronic myelomonocytic leukemia and myeloproliferative neoplasms. In children and adolescents with primary MDS, GATA2 deficiency is a predominant germline predisposition accounting for 7% of all MDS cases, 15% of patients with advanced MDS, and 37% of patients with MDS and monosomy 7 karyotype. Among children, the prevalence of GATA2 deficiency increases with age, and 2/3 of adolescents with MDS and monosomy 7 carry germline GATA2 mutations. In adult MDS, GATA2 deficiency is rare and present in less than 0.5% of individuals, however the true prevalence in various age groups has yet to be defined. There are multiple unanswered question about the function of GATA2 as a transcription factor, as well as about the mechanism of leukemogenesis arising from predisposing GATA2 mutations.

Aim
With this workshop, we aim to bring together top experts on GATA2 deficiency, aspiring scientists and trainees to discuss the knowledge gaps and facilitate international collaborations to improve our understanding about GATA2 and associated syndrome, and ultimately improve patient outcomes.