Author: ERN-RND

Holm Graessner, coordinator of ERN-RND, obtains the EURORDIS European Rare Disease Leadership Award 2023

This is really a great honour, not just for me but for my team and the people I collaborate with. The dominating feeling is appreciation and gratefulness to the people I am privileged to work with in the area of rare diseases. And there are many nice and fit persons I collaborate with.

This is how Holm Graessner describes his surprise and joy about the award.

Since 2012, EURORDIS-Rare Diseases Europe has organized the Black Pearl Awards. Goal of the event is to recognise the major achievements and outstanding commitment of patient advocates, patient organisations, policymakers, scientists, companies, and media who strive to make a difference for the rare disease community.

Holm studied Biomedical Engineering, Cybernetics, German Language and Literature, Philosophy, Business Administration and Marketing. He obtained a PhD (summa cum laude, 2004) and an MBA (2008). Holm is a founding member of the first Centre for Rare Diseases in Germany (2010). The center established an umbrella infrastructure (chaired by Holm), a therapy research centre and a clinical information centre for rare diseases.

I am a healthcare manager and a research manager. As healthcare manager I am the managing director of the Centre for Rare Diseases at the University Hospital Tübingen and the coordinator of the European Reference Network for Rare Neurological Diseases. As research manager, my team and I have been coordinating more than 30 large global, European and national collaborative research projects.

Holm initiated and coordinates the European Reference Network for rare neurological diseases (ERN-RND) as well as “Solve-RD – solving the unsolved rare diseases”.

Joining forces with the European Academy of Neurology (EAN), he is a fellow of the EAN and member of the management team of the coordinating panel for rare neurological diseases and of the neurogenetics panel.

Finally, Holm is one of the driving forces of the Ataxia Global Initiative and the European Network “1 Mutation 1 Medicine”.

The motivation and the will to advocate for patients with rare diseases and to improve their situation is the drive of his work even after many years.

Effective collaboration in the field of rare diseases needs to be patient-driven. So it always starts with listening to and involving patients and patient representatives. Furthermore, effective collaboration needs shared goals, appropriate resources, leadership, good communication and an engaged team. In the (academic) rare disease field, collaboration very often implies self-exploitation, at least to a certain extent. So I tend to apply the “nice people rule”. Collaborate with nice people in order to keep motivation and joy levels high.

Read Holms portrait on the EURORDIS homepage: https://www.eurordis.org/black-pearl-2023-education-and-collaboration/

Workshop on epileptogenesis

The third edition of the Rome workshop “In search of lost time” is taking place this winter, from December 13th to 15th!

This year’s topic is « From Epileptogenesis to Clinical care ». The workshop is organized by Italian epilepsy teams and is endorsed by the European Reference Network of Rare and Complex Epilepsies, ERN EpiCARE, and by the ILAE.

Find the programme here

Register here.

European Joint Programme on Rare Diseases (EJP RD)

Call for Proposals 2023
“Natural History Studies addressing unmet needs in Rare Diseases”

The European Joint Programme on Rare Diseases (EJP RD) has successfully implemented four Joint Transnational Calls since 2019 to further help in coordinating the research efforts of European, Associated and non-European countries in the field of rare diseases and implement the objectives of the International Rare Disease Research Consortium (IRDiRC). These actions are following the ten Joint Transnational Calls for rare diseases research projects launched previously by the ERA-Net E-Rare since 2006.

The aim of the call is to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with expected impact to use the results in the future for benefit of patients.

Topic: Natural History studies addressing unmet needs in Rare Diseases

The objective of this call is to conduct efficient, innovative and high-quality natural history studies which will facilitate understanding of the disease’s or group of disorders’ progression throughout the lifespan of a patient. The goal of these studies is to collect and analyze comprehensive patient data to define targets for future therapies, taking into consideration innovation, safety, and efficacy.

Find more information here: https://www.ejprarediseases.org/joint-transnational-call-2023/

Abstract submission for the EAN 2023 is open!

Abstract Submission

Presenting your research at Europe’s largest neurology forum has always been exciting, and this year will be even more so. A chance for us to meet in person and your opportunity to address an audience hungry for scientific meetings!
Whether you wish to present your work as an oral platform presentation, an ePoster or as a virtual ePoster format, this is the ideal time to share your latest study results with our enthusiastic neurology community.
Important points to remember:

  1. Make sure you have an up-to-date MyEAN profile
  2. Check the dates, guidelines, and topics
  3. Abstracts must be submitted online via the congress website. Get started with your submission here!
  4. If your abstract is accepted, make sure the presenting author is registered for the congress.

Find more information here

Multidisciplinary Fetal Diagnostics Winter School

07-08 December 2022,   Paris, France 

The Winter School on Fetal Diagnosis organised by the ERN-ITHACA aims to address a learning gap in fetal phenotyping, genetic analysis, and data interpretation. As a single-day course it will include basic lectures and in depth-workshops on phenotyping, prenatal genomic testing, and the implications for genetic counselling. To finalize, the program will bridge the addressed fields with interdisciplinary case discussions.

The course is open to specialists and specialists in training in the fields of clinical and laboratory genetics, bioinformatics, obstetrics, pathology with a special interest in prenatal medicine.

Find more information here.

EURORDIS launches new podcast: Rare on Air

In their new monthly podcast, Rare on Air, Communications Manager, Julien Poulain, meets with people who live with a rare disease, those who advocate for them, and experts on rare disease policy.

The podcast explores the unique experiences, challenges and successes of people from our community, and investigates how we can build a better world for those who have a rare condition.

Each episode focuses on a specific theme or policy area relating to the work and advocacy of EURORDIS.

Read more

Solve-RD Webinar: The Treatabolome Database

The information, gathered by experts and published in systematic literature reviews, is now stored and accessible in the Treatabolome DB. Currently, the database includes up to 180 treatments associated with more than 1000 distinct variants – mainly for neuromuscular disorders. Records are completed with clinical information by using standard vocabularies such as HPO, Orphanet, OMIM, Mesh and Chebi. The project is open to new data submissions and collaborations.
This webinar is especially relevant for people involved in rare disease diagnostics & care (clinicians, geneticists, genetic counsellors, etc.). We will:

  • provide an overview on the Treatabolome Database
  • explain how to use the information
  • show how to find a treatment for a specific genetic disease
  • show how new data is being included and how you can contribute

Date: Friday, 18 November 2022, 2pm CET
Speakers: Sergi Beltran, Alberto Corvo, Leslie Matalonga (all CNAG-CRG)

ERN-RND supports Rare Disease Day

Rare Disease Day is the official international awareness-raising campaign for rare diseases which takes place on the last day of February each year.

The main objective of the campaign is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. Rare Disease Day was launched by EURORDIS-Rare Diseases Europe and its Council of National Alliances in 2008.

Find more information about Rare Disease Day here.

EURORDIS PHOTO AWARD 2023

Photo submissions for the Photo Award 2023 are open, until 22nd January 2023.
The EURORDIS Photo Award is an opportunity to visually express what it means to live with a rare disease and to share your story with the rare disease community and beyond.

The contest is open to all nationalities, ages and diseases. Every year hundreds of people from all around the world submit their photos, each reflecting the drive of people living with a rare disease worldwide.

Participate and submit your photo here.

Ataxia Global Conference 2022

Register for Ataxia Global Conference 2022!  It has a focus on trial-readiness for ataxia, bringing together representatives from research, clinics, industry as well as patient advocacy organizations. Our sessions cover cohort updates from different continents, clinical and patient-related outcomes, biomarkers and therapy development in ataxia and include an industry session.

When? 4-5 November 2022

Where? hybrid – Dallas, TX, USA and online

Register here.

(the last day for an early bird registration is 10 October 2022!)

Expert Conference on Rare Diseases

Rare diseases, including rare cancers, are a heterogeneous group of largely incurable, complex conditions. There are over 6000 rare diseases, and more than 70% have a genetic origin. Although individually characterised by low prevalence, the sheer number of rare diseases results in a directly affected community of 20 million people across the EU. Rare diseases are chronic, progressive, degenerative, disabling and frequently life threatening. They are typically accompanied by a scarcity of knowledge and expertise.

The Czech Presidency of the EU Council organised the Expert Conference on Rare Diseases in Prague on 25-26 October 2022 to explore how the European Union can take continued steps towards a coordinated strategy for rare diseases to better addresses current unmet needs by setting meaningful goals for patients, families and for society at large, integrated at the national and regional levels.

Find more information here.

4th TransplantChild workshop

The workshop will have a hybrid format. It will be hosted by Centro Hospitalar Universitário do Porto, Portugal, but participants will also be able to join on line, on Thursday, 27th October. The main aim is addressing the education and training activities currently available in the different centres of the ERN in order to elaborate a common training programme for paediatric transplantation in Europe, providing the trainees with the skills to perform a common and transversal approach to all types of paediatric transplantation procedures. Registration for the workshop is already open until Friday, 14th October at 23:55 CET.

Register here

EJP RD-Workshop on childhood epilepsy and movement disorders

For two days, experienced, as well as young academics and the representatives of patient organizations, exchanged views on existing initiatives and the improvement of research in the field of Childhood Epilepsy and Movement Disorders.

Rare neurologic disorders in pediatrics often go unrecognized, resulting in protracted delays in diagnosis and limited treatment options. Even when detected early, treatment remains mostly empiric, due in part to limitations in clinical trial design and implementation: several of these disorders with similar clinical manifestations are caused by a variety of affected genes, while therapy in one group of patients may not be applicable to all individuals with the same genetic defect. The main objective of this networking event was to bring together clinicians and scientists from different EU countries and other countries who are intensively involved in clinical research and/or basic research in the field of epilepsy and movement disorders. The event explored the possibility of new treatment approaches in light of recent developments in the field. Researchers were given the opportunity to establish new collaborations, discuss the development of precision medicine hypotheses, and conduct treatment trials to reach more patients across Europe.

Publication: “Dystonia management across Europe within ERN-RND: current state and future challenges”

Article: Dystonia management across Europe within ERN-RND: current state and future challenges

Authors: Liesanne M Centen  , David Pinter  , Martje E van Egmond , Holm Graessner, Norbert Kovacs , Anne Koy , Belen Perez-Dueñas, Carola Reinhard , Marina A J Tijssen, Sylvia Boesch 

Published: October 2022

8th International Symposium on NBIA

The 8th International Symposium on NBIA will take place from October 13th to 15th, 2022 in Lausanne, Switzerland.

For three days, scientists and medical professionals from all over the world are invited to share their work and develop new strategies. Learn news from NBIA research! Share your experience in treating NBIA and take part in round table discussions!

More information

ERN-RND ANNUAL MEETING 2022

From September 29th to October 1st the annual meeting took place at the CRONA-Kliniken in Tübingen. We are happy that besides the online participants also many on-site participants were present. We would like to thank all participants again for the inspiring presentations, discussions and the valuable exchange.

Astri Arnesen, ERN-RND ePAG representative and president of the European Huntington Association, participated in Tübingen and says:

In my opinion this network will be an important part of providing expertise and best practise treatment and support to RND patients all over Europe.

Read the full article here

ERN support Ukraine – Rare Diseases Hub Ukraine

Rare Diseases Doctors

The 24 European Reference Networks (ERNs) for rare and complex diseases are united to support all Ukrainian patients.

The 24 European Reference Networks (ERNs) for rare and complex diseases are united to support all Ukrainian patients.

Rare Diseases Hub Ukraine

This application connects patients from Ukraine with a rare disease with organizations and hospitals, members of the European Reference Network (ERN), with the aim to provide the specialized medical support they may need during this emergency.