The Findacure International Rare Disease Showcase
From 02 to 04 February 2022
At : Online
Events
EURORDIS Black Pearl Awards
On 09 February 2022
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
11th Scientific Congress of the International Paediatric Transplant Association- IPTA 2022
From 27 to 30 March 2022
At : Prague, Czech Republic
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
The European Human Genetics Conference 2022
From 12 to 15 June 2022
At : Vienna, Austria
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
11th International Prader-Willi Syndrome Organisation Conference-IPWSO
From 07 to 11 July 2022
At : Limerick, Ireland
Grants
EJP RD Joint Transnational Call 2022
The European Joint Programme on Rare Diseases (EJP RD) has opened its Joint Transnational Call 2022.
The topic of this call is the "Development of new analytic tools and pathways to accelerate diagnosis and facilitate diagnostic monitoring of rare diseases". A number of national and regional funding organisations will participate in the EJP RD Joint Transnational Call 2022 and will fund multilateral research projects on rare diseases under the EJP-COFUND action.
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.
The projects shall involve a group of rare diseases or a single rare disease following the European definition, focusing on the European Community, EC associated states and Canada.
The deadline to submit the pre-proposal is 16 February 2022.
Fondation Maladies Rares Call 2021
The French Foundation for Rare Diseases (Fondation Maladies Rares) has launched its 2021 call entitled ‘Identifying therapeutic molecules for rare diseases’. The call will support one of the two following steps of drug discovery:
- Development of an automated assay and compound screening
- ‘Hit to Lead’ campaign to develop lead candidates
The deadline for the submission of the proposals is 20 January 2022.
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.
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.
Courses and educational initiatives
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:
- 28th January 2022, 6pm CET:
- NF1 Pediatric Management
- Chaired by Rianne Oostenbrink, Erasmus University Medical Center (Rotterdam, Netherlands)
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:
- 25th January 2022, 1pm - 2pm CET :
- Cutaneous diseases related to DNA repair disorders
- 22th February 2022, 1pm - 2pm CET :
- Ectodermal Dysplasias including Incontinentia Pigmenti and p63-associated disorders
- 29th March 2022, 1pm - 2pm CET :
- Autoimmune Bullous diseases
- Autoimmune Bullous diseases
Job opportunities
Project Manager "Nomenclature and Terminology Alignments"
Please send your CV and cover letter to:
Houda Ali
Tel : +33 (0)1 56 53 81 41
jobs.orphanet@inserm.fr
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
Media
NORDpod: The voice of rare diseases
NORDpod, the official podcast of the National Organization for Rare Disorders, has been launched. The podcast includes new episodes on Wednesdays to hear stories from patients, caregivers, and rare disease experts. Episodes are available on all major podcast apps.