First African Summit on Rare Diseases
From 02 to 04 December 2021
At : Accra, Ghana
Events
Inaugural lecture: Finding strength in numbers
On 04 December 2021
At : Leiden, the Netherlands
Marche des Maladies Rares
On 05 December 2021
At : Paris, France
EU Big Data Stakeholder Forum
On 08 December 2021
At : Online
Webinar: Deep brain stimulation in children with acquired dystonia
On 08 December 2021
At : Online
Webinar: GATOR1-related epilepsies
On 10 December 2021
At : Online
Webinar: Does Randomization matter in RD clinical trials?
On 15 December 2021
At : Online
Webinar: Maximising engagement with healthcare professionals
On 15 December 2021
At : Online
Webinar: Capturing the patients’ voices on patient safety
On 15 December 2021
At : Online
Webinar: ETA guideline paediatric thyroid nodules and thyroid carcinoma
On 16 December 2021
At : Online
Webinar: Congenital Brain Tumor: Diagnostic and Therapeutic Challenges
On 16 December 2021
At : Online
Webinar: The development and repair of bone-to-tendon attachment
On 17 December 2021
At : Online
ERN GENTURIS 5-year anniversary conference
From 11 to 12 February 2022
At : Online
International Symposium for Researchers and Clinicians on Wiskott Aldrich Syndrome- WAS2022
On 19 March 2022
At : Munich, Germany
The Translational Science of Rare Diseases - From Rare to Care IV
From 31 March to 02 April 2022
At : Tutzing, Germany
20th International Vasculitis and ANCA Workshop
From 04 to 07 April 2022
At : Dublin, Ireland
International Primary Immunodeficiencies Congress – IPIC 5th Edition
From 28 to 30 April 2022
At : Vilamoura, Portugal
ECTS 2022: 49th edition of the European Calcified Tissues Society Congress
From 08 to 11 May 2022
At : Helsinki, Finland
World Congress on Rare Skin Diseases
From 08 to 10 June 2022
At : Paris, France
13th International Congress on Autoimmunity
From 11 to 14 June 2022
At : Athens, Greece
7th Annual TREAT-NMD International Conference
From 17 to 18 June 2022
At : Vancouver, Canada
European Conference on Rare Diseases & Orphan Products- ECRD 2022
From 28 June to 02 July 2022
At : Online
Grants
European Commission Horizon Europe Framework Programme (HORIZON)
The European Commission is funding a call on the development of new effective therapies for rare diseases with the aim of “Tackling diseases diseases and reducing disease burden.” The topic will support proposals covering several different stages in the continuum of the innovation pathway ( translational, preclinical, clinical research, validation in the clinical and/or real-world setting etc.), as relevant.
To that end, proposals under this topic should aim for delivering results that are directed, tailored towards and contributing to some of the following expected outcomes:
- Researchers and developers make the best use of the state-of-the-art knowledge and resources for a fast and effective development of new therapies for rare diseases.
- Researchers and developers increase the development success rate of therapies for rare diseases by employing robust preclinical models, methods, technologies, validated biomarkers, reliable patient reported outcomes and/or innovative clinical trials designs.
- Developers and regulators move faster towards market approval of new therapies for rare diseases (with currently no approved treatment option) due to an increased number of interventions successfully tested in late stages of clinical development.
- Healthcare professionals and people living with a rare disease get access to new therapeutic interventions and/or orphan medicinal products.
The deadline for this call is a two-stage model, including 1 February 2022 and 06 September 2022.
The EJPRD is offering services to help applicants for this call, notably in the fields of Data FAIRification, Clinical Studies Support Office and Mentoring.
The 2nd Share4Rare Call for Research Projects
The objective of this call is to select two projects from research groups and/or patient organisations to be implemented and developed from January to December 2022. This call is thus open for patient-driven research projects. Applications are due before 10 December 2021.Patients’ organisations or academic institutions, and other related stakeholders interested to promote patient-centred research in rare diseases are welcome to apply.
Selected proposals will be co-financed by Sant Joan de Déu Research Foundation, which will assume 50% of the costs related to the implementation of the research project.
Second wave of the EU4Health calls for project grants
The second wave of the EU4Health calls for project grants under the 2021 Work Programme has been published. The 13 topics range from health data, healthy lifestyles, infections, mental health, cancer, genomics and more.
Applications are acceptable either by a sole applicant or by a consortium. In case of a consortium, the consortium must be a consortium of at least 3 applicants, and it must comply with the condition of minimum 3 entities from 3 different eligible countries.
Eligible countries are EU Member States or eligible non-EU countries. Eligible non-EU countries are EEA countries, and countries associated to the EU4Health Programme.
Applications are welcome until 25 January 2022.
EJP RD – Networking Support Scheme (NSS) Call
The EJP RD Networking Support Scheme (NSS) call is open.
The first aim is to encourage sharing of knowledge on rare diseases and rare cancers of health care professionals, researchers and patients. The second aim is to enable or increase the participation of usually underrepresented countries in Europe (see below) in new and existing research networks. The scheme will provide financial support to applicants to organize workshops or conferences. The focus of these workshops or conferences should be (the implications of) research results and innovative solutions in compliance with the vision set by the International Rare Diseases Research Consortium (IRDiRC) : "“enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention”.
In this Networking Support Scheme applicants can apply for a budget of a maximum of 30,000 € per event.
The collection date is December 2, 2021 at 14.00 (CET).
The most important change from June 3, 2021 is that applicants can choose between the format of a face-to-face meeting, an online meeting or a hybrid meeting if networking is secured. The Call documents have been changed acoordingly.
Please note: Are you planning to apply for the next rounds of the Networking Support Scheme? Please note that the documents have been updated in June 2021. Take care not to use earlier documents as they will not be eligible anymore.
Courses and educational initiatives
IRDiRC Call for Experts – MedTech
A new Working Group has been created by the Therapies Scientific Committee (TSC), the Interdisciplinary Scientific Committee (ISC) and the University of Twente, the Netherlands. The aim of this Working Group is to explore the role and value of medical devices in rare diseases. The Working Group will focus on devices used for either the treatment of rare diseases or devices used to support physical activities of patients.
As such, the Working Group aims to create a better understanding and enhanced awareness of device developer’s needs, the standardized outcomes to define user needs for devices, and to offer a groundwork for developing solutions to improve the landscape of MedTech use for rare disease patients.
Patients, patient representatives, health care professionals, experts in technical file preparation, funders with experience on funding medical technology are invited to apply before 14 December 2021.
2nd class of the ERKNet Postgraduate Curriculum in Rare Kidney Disease
The ERKNet is launching the second class of its Postgraduate Curriculum in Rare Kidney Diseases. The training programme targets post-graduate physicians who wish to become certified European experts in rare kidney diseases. The curriculum is a structured 3-year programme covering the entire field of rare kidney diseases in a series of webinars and a case-based eLearning module.
Eligible candidates include employees of an ERKNET Member or Affiliated Partner, postgraduate trainees in internal medicine/paediatrics, postgraduate trainees in nephrology or paediatric nephrology and nephrologists or paediatric nephrologists, geneticists, or nephropathologists.
The class will start on 15 January 2022. Subscriptions are open until 31 December 2021.
Radboudumc Adrenal Masterclass
Radboud UMC is organizing its fourth international Radboudumc Adrenal Masterclass to presents the state-of-the-art lectures and workshops on clinical and pathophysiological aspects of adrenal diseases. The masterclass is aimed at adult and paediatric endocrinologists, clinical fellows, internists and clinical chemists who are involved in the management of patients with adrenal disease.
The masterclass will take place on January 24-28, 2022 in Amsterdam, the Netherlands. It will cover major adrenal disorders and will include lectures as well as interactive sessions on patient cases with challenging diagnostic and therapeutic issues.
Introduction to real world data
The European Health Data & Evidence Network (EHDEN) and the European Patients’ Forum (EPF) offer a free course to patient organisations on real world data. The course focuses on data protection and the vital role they can play in the healthcare ecosystem and health research.
The course is available upon registration through the EHDEN Academy.
Paediatric Surgery Courses
A new series of Paediatric Surgery Courses organized by the Radboud UMC – Amalia Children’s Hospital (Nijmegen, The Netherlands) will be held online in 2022.
The courses will take place on the following dates:
- Pediatric Colorectal Course 13-14 January 2022
- ECMO & CDH course 10-11 March 2022
ERN EpiCare e-learning modules
The ERN EpiCARE has developped new e-learning modules in collaboration with the ILAE Academy. The modules are dedicated towards professionals who wish to practice diagnosis of rare and complex epilepsies. The first online six modules are patient-centered cases.
EJP-RD and the Foundation for Rare Diseases : "Diagnosing Rare Diseases - from the Clinic to Research"
The European Joint Programme on Rare Diseases has launched an online academic education course on rare diseases research topics. The development of the courses is coordinated by the Foundation for Rare Diseases, one of EJP RD's partners.
The first MOOC (Massive Open Online Course) “Diagnosing Rare Diseases: from the Clinic to Research and back” started on April 26th. This course aims to gain insight into patients’ experiences and discuss key issues relating to this topic.
It has been co-developed with representatives from ERN Ithaca (Prof Laurence Faivre, Dijon University Hospital), ERN Genturis (Dr Chrystelle Colas, Curie Institute) and Foundation for Rare Diseases (Roseline Favresse).
This course is designed for individuals with a keen interest in diagnostic research and rare diseases. While primarily designed for medical students and PhD/post-doc students in biomedical sciences, it will also be of interest to Patients Advocacy Organisations’ representatives, Healthcare professionals or paramedics who want to further their knowledge of rare diseases diagnosis.
This course will cover the following topics :
- The diagnostic process and the types of genetic tests available for rare diseases
- The differences in rare genetic diseases patient pathways
- Technological advances for diagnostic research
- The role of collaborative studies and data sharing in rare diseases diagnosis
- The impact of having or lacking a diagnosis on patients’ lives
- The role and place of physiopathology approaches as well as social sciences research in the context of rare diseases diagnosis.
The 8th Rare Diseases Summer School
Because of the pandemic covid-19, the 8th Rare Diseases Summer School has been postponed and will be held from 13 July to 15 July 2022 in Kartause Ittingen. The rare diseases summer school is part of the curriculum of the PhD programs. It aims to provide an environment for informal exchange between PhD students and experts in the field of rare disease research. The application procedure will open in 2022.
International Neurofibromatose Educational Resources: Masterclasses in NF
INFER (International NF Educational Resources) is a series of online educational lectures for medical professionals by leading neurofibromatosis experts.
The next lecture will be held on:
- 10th December 2021, 4pm CET:
- NF1 Associated Glioma in Children - the Optic Pathway and Beyond
- Chaired by Amedeo Azizi, Head of the Paediatric Neurofibromatosis Program and Paediatric Neuro-Oncology Program (Vienna, Austria)
ERN-Skin: Series of webinars
The ERN-Skin launches a series of scientific webinars on rare skin diseases. Each ERN-Skin thematic group organizes a one hour session, with 30 minutes presentation and 30 minutes discussion.
The next webinars will be held on:
- 14th December 2021, 1pm - 2pm CET :
- Mendelian connective tissue disorders
- 25th January 2022, 1pm - 2pm CET :
- Cutaneous diseases related to DNA repair disorders
- 22th February 2022, 1pm - 2pm CET :
- Thematic group on Ectodermal Dysplasias including Incontinentia Pigmenti and p63-associated disorders
Job opportunities
Medical translator English/French
Please send your CV and cover letter to jobs.orphanet@inserm.fr
Project Manager "Nomenclature and Scientific Coordination of National Hubs"
Please send your CV and cover letter to jobs.orphanet@inserm.fr
Editorial Assitant
Please send your CV and cover letter to jobs.orphanet@inserm.fr
Web Application Developer
Please send your CV and cover letter with the reference 2019-US14-004 to:
Marc Hanauer
Tel : +33 (0)1 56 53 81 37
jobs.orphanet@inserm.fr
Orphanet Nomenclature & rare diseases and X-eHealth Project Manager
Please send your CV and cover letter to jobs.orphanet@inserm.fr
Orphanet Rare disease clinical trials and orphan medicinal products data curator
Please send your CV and cover letter to Charlotte Gueydan at jobs.orphanet@inserm.fr
Orphanet database curator
Please send your CV and cover letter with the reference US14-2021-01 to:
Charlotte Gueydan
Tel : +33 (0)1 56 53 81 41
jobs.orphanet@inserm.fr