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 will be further 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 are 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 will present a forum to discuss ongoing research projects between international participants.

We plan to host around 30 young investigators (younger than 40 years) and in addition, around 10 senior scientists who will be there to discuss, give advice, serve as mentors and give state of the art presentations during the workshop. To support the aims of the workshop the meeting will take place in the Pier3 Hotel located right in the heart of the Hamburg harbour city (https://www.pierdrei-hotel.de). The meeting will start with a dinner on the 24th of May and end around 3 p.m. on the 26th of May.

What do clinicians need and what has basic science to offer.
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 is ideal to bring the different stakeholders (patients, clinicians and basic scientists) and different research communities in complex urogenital diseases together.

Upcoming

Upcoming

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 on 18 and 19 May 2023 at the RSU Anatomy museum

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: 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.

Aim of the research and training workshop: 
This workshop aims 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 will cover 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 is suitable for the entire ERN community, and will bring 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.

Speakers, participants and venue representatives from ERN-CRANIO and ERN-ReCONNECT partners will be involved, including patient advocacy associations with a wide and diversified target audience (PhD students, postDoc, researchers, clinicians, resident fellows, specialized paramedics). The event will be held in Rome, Italy. Preliminary date: end of September 2023.