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.’

29

Sep

2022

Comprehensive gene profiling, molecular tumor board (mtb) and artificial intelligence in the diagnosis and treatment of patients with rare adult cancers

All times are in EEST (Eastern European Summer Time) GENERAL INFORMATION 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…

  • 09:00 - 16:00 (30 September 2022)
  • Turku, Finland

05

Nov

2022

Rhabdoid tumors in clinic and research: From basic biology to the patient bed

GENERAL INFORMATION ConceptIn 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…

  • 07:30 - 15:45
  • Charenton-le-Pont, France

Selected ERN Workshops (upcoming)

Introduction: 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 of the research and training workshop: 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 speakers in this workshop will cover this broad spectrum of topics, including interdisciplinary management, advanced molecular diagnostics and management. Interactive lectures will demonstrate practical aspects of clinical and translational research. The training methodology will be participative. The interaction between clinicians and researchers will enable fruitful discussions and future collaborations within the ERN. The topics, such as designing clinical trials and developing gene therapy are of high interest also for other disease subgroups within the ERN-Skin and for other ERNs. Personal interaction and discussions will be encouraged during the sessions and the breaks, to increase collaboration in the future. In particular, for junior researchers, this will be a great opportunity to meet experts and peers and bond professional relationships for their career.

Participants and speakers will involve representatives from several ERN-Skin partners. Event will be held in Freiburg, Germany. Preliminary date: end of March 2023.

General information:
Currently blindness represents an increasing global problem with a significant social and economic impact upon affected patients and society. Inherited retinal dystrophies (IRDs) constitute a heterogeneous group of retinal diseases that cause the progressive loss of vision. IRDs affect about 1 in 2,000 to 3,000 individuals. IRDs present high genetic and clinical heterogeneity. Genetics of IRDs is very complex with more than 300 genes involved. This heterogeneity makes difficult to find the specific mutation, as well as the correct treatment for most of these diseases.

At cellular level, gene defects promote a morphological and functional impairment of retinal cells including oxidative damage, inflammation, retinal remodelling and cell death. Several therapeutic approaches have been developed in order to stop (e.g. gene therapy) or slow down (e.g. neuroprotection) retinal degeneration or restore visual function (e.g. artificial devices). The most appropriate therapeutic approach depends on the stage of the retinal disease.

Nanotechnology has reformed the field of drug delivery and revolutionized medicine. Drug Delivery Systems (DDS) protect drugs and gene material from degradation, improve their permeability across cell membranes, their bioavailability, provide stable formulation and yield sustained and controlled release of drugs. DDS have a considerable potential to enrich drug concentration, deliver gene material, etc. to the back of the eye in IRDs.

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 of the research and training workshop: 

  • To give an update on basic and translational research related to new therapeutic approaches for IRDs
  • To bring together experts and trainees to improve the training of young researchers on IRDs and facilitate collaborations and exchange of ideas between attendees.
  • To show trainees the patient´s insight on the latest treatments.

Participants and speakers will involve representatives from several ERN-EYE partners and non-ERN-EYE partners. The workshops will be performed in English and delivered by basic researchers, ophthalmologist, and representatives of patients’ associations.
Preliminary date: either 20.-21. February 2023 or 22.-23. May 2023.

Psychology and mental well-being are topics that are often overlooked and underfunded in rare diseases. In this workshop, experts will come together to discuss (future) research and practice goals that support psychosocial needs in rare diseases. The overall perspective of the workshop is to shed light on the common needs in uncommon conditions, by getting an overview of the overarching care needs in rare diseases. Together with you and other different stakeholders we will discuss future perspectives of rare diseases and how to be ‘RareTogether’!

Introduction: 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 is going to launch the HBOC GPS feasibility pilot project to evaluate the optimal genetic testing strategy and psychometric evaluation of the participants.
Aim of the research and training workshop: to educate researchers and clinicians on Psychological, molecular and administration aspects of HBOC GPS
Participants and speakers will involve representatives from several ERN GENTURIS partners, including, but not limited to Latvia, Estonia, Lithuania, Poland, Netherlands and Norway.
Event will be held in Riga, Latvia. Probably, September 15th, 16th, 2022, but this is still preliminary date.

The workshop is 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 wish 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. In the near future, we aim 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 will raise 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.

GENERAL INFORMATION:
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 aims 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 is to promote discussion in work groups and stimulate the elaboration of a future research project of precision medicine application and evaluation of its benefits.

TEACHING METHOD:
Interactive lectures presentations, discussion in working groups, interactive debate. All participants will be encouraged to present ideias. Working group activities will be focused on plans for future research on this field.

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

DATE
May 2023

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 is 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 will be divided into two days in which we deal with different bottlenecks. On the first day, we will review the state of the art in therapy development and problems of the current viral carriers, and possible solutions. On the second day, we will discuss the problems related to clinical implementation and safety.

Due to the limited size of face-to-face events, our plan is to have a hybrid model with free participation after online registration and 20 assistants who will be selected by ERN participation, age (those who will be leading this in Europe in 10 years to come) and previous demonstration of involving in gene therapy. 

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. 

OBJECTIVES

  • 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.

METHODOLOGY
Oral presentations followed by an open discussion with all participants.

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.

DATE
First week of March 2022

Introduction: 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 of the research and training workshop:
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 speakers in this workshop will cover this broad spectrum of topics, including interdisciplinary management, advanced molecular diagnostics and management. Interactive lectures will demonstrate practical aspects of clinical and translational research. The training methodology will be participative. The interaction between clinicians and researchers will enable fruitful discussions and future collaborations within the ERN. The topics, such as designing clinical trials and developing gene therapy are of high interest also for other disease subgroups within the ERN-Skin and for other ERNs. Personal interaction and discussions will be encouraged during the sessions and the breaks, to increase collaboration in the future. In particular, for junior researchers, this will be a great opportunity to meet experts and peers and bond professional relationships for their career.

Participants and speakers will involve representatives from several ERN-Skin partners. Event will be held in Freiburg, Germany. Preliminary date: end of March 2023.