Global Disability Summit: 2022
From 16 to 18 February 2022
At : Online
Events
ERN Webinar: Vaccines in Paediatric Solid Organ Transplant candidates and recipients
On 19 February 2022
At : Online
Lessons learned from the COVID-19 pandemic: Looking to the future with The UK Rare Diseases Framework
On 23 February 2022
At : Online
ERN Webinar: Participate in Patient-Centred Rare Diseases Research with Share4Rare
On 24 February 2022
At : Online
Workshop: The anti-IgLON5 disease- Challenges in diagnosis, treatment and pathogenesis of the disease
From 25 to 26 February 2022
At : Barcelona, Spain
2022 Global Rare Disease Day Event- RARE DISEASES: A GLOBAL PRIORITY FOR EQUITY
On 01 March 2022
At : Online and in Dubai, United Arab Emirates
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
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
14th European Paediatric Neurology Society Congress- EPNS 2022
From 29 April to 03 May 2022
At : Glasgow, UK
ECTS 2022: 49th edition of the European Calcified Tissues Society Congress
From 08 to 11 May 2022
At : Helsinki, Finland
European Congress of Rheumatology - EULAR 2022
From 02 to 05 June 2022
At : Online and in Copenhagen, Denmark
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
The European Human Genetics Conference- ESHG 2022
From 12 to 15 June 2022
At : Vienna, Austria
7th Annual TREAT-NMD International Conference
From 17 to 18 June 2022
At : Vancouver, Canada
8th Congress of the European Academy of Neurology – Europe 2022
From 26 to 29 June 2022
At : Vienna, Austria
European Conference on Rare Diseases & Orphan Products- ECRD 2022
From 28 June to 02 July 2022
At : Online
International Congress on Neuromuscular Diseases- ICNMD 2022
From 06 to 10 July 2022
At : Brussels, Belgium
11th International Prader-Willi Syndrome Organisation Conference-IPWSO
From 07 to 11 July 2022
At : Limerick, Ireland
FENS Forum 2022
From 10 to 14 July 2022
At : Paris, France
7th International Myology Congress
From 13 to 16 September 2022
At : Nice, France
From Paradigms to Paradoxes in Immunity and Immunopathology’ (PPII) international conference
From 07 to 09 October 2022
At : Freiburg, Germany
Third International Summit on Human Genome Editing
From 07 to 09 March 2023
At : London, United Kingdom
The Translational Science of Rare Diseases - From Rare to Care IV
From 04 to 06 May 2023
At : Tutzing, Germany
Grants
EJP RD Networking Support Scheme (NSS) Funding Opportunity
The aim of the NSS call is to encourage knowledge-sharing between health care professionals, researchers and patients on rare diseases and rare cancers, as well as to enable or increase the participation of usually underrepresented countries in Europe in new and existing research networks. Eligible applicants are health care professionals, researchers, and patient advocacy organisations from the following countries involved in the EJP RD: Armenia, Austria, Belgium, Bulgaria, Croatia, Czech Republic, Denmark, Estonia, Finland, France, Germany, Georgia, Greece, Hungary, Ireland, Israel, Italy, Latvia, Lithuania, Luxembourg, Malta, Norway, Poland, Portugal, Romania, Serbia, Slovakia, Slovenia, Spain, Sweden, Switzerland, the Netherlands, Turkey, United Kingdom. There is no limit on the number of participants per event; however, the maximum budget that can be requested is € 30,000 per networking event.
The NSS has been expanded to include online and hybrid networking events that can now be funded in addition to face-to-face events. A hybrid networking event consists of a group of participants networking face-to-face at a specific location together with other participants networking online.
Next collection date: 1 March 2022
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.
FDA funding opportunity for rare disease research
The Food and Drug Administration’s (FDA) Office of Orphan Products Development (OOPD) has announced a grant to support efficient and innovative natural history studies that advance medical product development in rare diseases with unmet needs. The funding opportunity announcement is entitled “Efficient and Innovative Natural History Studies Addressing Unmet Needs in Rare Diseases (R01) Clinical Trials Not Required”. The purpose of this grant is to address critical knowledge gaps and facilitate rare disease product development.
The receipt dates for this funding opportunity are 15 February 2022 and 13 February 2024.
Funding opportunities for Patient-Partnered Collaborations from the Chan Zuckerberg Initiative
The Chan Zuckerberg Initiative (CZI) invites applications from collaborative teams bringing together patient-led rare disease organizations and research teams for 4-year research projects aimed at advancing our understanding of the fundamental science of rare diseases across two requests for applications (RFA):
- The Patient-Partnered Collaborations for Single-Cell Analysis of Rare Inflammatory Paediatric Disease RFA aims to support the application of single-cell biology methods to rare inflammatory paediatric diseases in order to clarify cellular mechanisms of disease, improve understanding of disease heterogeneity, identify biomarkers, and improve diagnosis.
- The Patient-Partnered Collaborations for Rare Neurodegenerative Disease RFA aims to advance the understanding of the pathophysiology and mechanistic underpinnings of rare neurodegenerative and neurological disorders.
Applications for these two RFAs are open until 24 May 2022. An information webinar will be held on 16 February 2022 for potential applicants and registrations are now open.
Courses and educational initiatives
EJP RD training on strategies to foster solutions of undiagnosed rare disease cases
The International Course “Training on strategies to foster solutions of undiagnosed rare disease cases” is part of a series of training activities proposed by the EJP RD. The course will provide participants, through the presentation of sample use cases that have long eluded diagnosis, with useful tools, instruments and knowledge on novel strategies to foster solutions of undiagnosed RD cases. Moreover, the course will facilitate networking among professionals involved in undiagnosed rare conditions.
The course will take place online on 11– 13 April 2022 and registration is open until 6 March 2022.
EURORDIS Open Academy
The EURORDIS Open Academy provides courses to empower patient advocates with knowledge and skills to take part in patient engagement roles with all stakeholders and to advocate for rare diseases on a European and national level.
Trainings are delivered in English and comprise-learning modules, pre-training webinars and face-to-face/online intensive days.
RareLaunch programme
NORD’s RareLaunch programme provides an accessible educational platform that allows an individual to explore the steps to start a nonprofit and/or to engage in starting or expanding research efforts as a nonprofit leader. Twi courses are available, Forming a Foundation and Research Ready. Forming a Foundation provides education and training for interested patients and caregivers looking to form rare-disease-focused nonprofits. Research Ready supports the efforts of patient organizations to effectively prepare for scientific research and the creation of rare disease registries. Both courses emphasize capacity building and expanding confidence at a pivotal stage in a rare disease community’s growth and development.
Global Genes Launches 8th Annual RARE Compassion Programme
The RARE Compassion Programme aims at connecting medical students with patients and their families experiencing a rare diagnosis, with the goal of fostering meaningful doctor-patient relationships, nurturing future advocates in rare disease and inspire careers in rare disease care and research.
For the 2022 programme, medical students will be provided the opportunity to meet with paediatric and adult patients in a 4-part rotation.
Applications will close on 25 February 2022.
EJP RD Funded ERN Training Workshops
The EJP-RD is holding workshops aiming at training ERN researchers and clinicians in relevant innovative themes with a cross-ERN added value. These 2-days ERN workshops are open to interested persons (clinicians/scientists) affiliated to ERNs or Affiliated Partner Institutions.
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. Three workshops are already planned in 2022 and registrations are now open.
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.
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:
- 17th March 2022, 6pm CET:
- Cognition and Behaviour in NF1: Phenotype and Treatment Approaches
- Chaired by Shruti Garg, Royal Manchester Children’s Hospital, United Kingdom
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:
- 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
Head of the Scientific Unit of the Orphanet rare disease database
Contact: jobs.orphanet@inserm.fr
Project Manager "Rare Disease Research Activities"
Please send your CV and cover letter to:
Charlotte Gueydan
Tel : +33 (0)1 56 53 81 41
jobs.orphanet@inserm.fr
Scientific Project Manager "Clinical Signs in Rare Diseases"
Please send your CV and motivation letter to:
Ana Rath
jobs.orphanet@inserm.fr
Tel : +33 (0)1 56 53 81 41
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
Project Manager "Nomenclature and Scientific Coordination of National Hubs"
Please send your CV and cover letter to:
Houda Ali
Tel : +33 (0)1 56 53 81 41
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
Project Manager "Diagnostic Tests and Medical Laboratories"
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
European Project Officer for VASCERN
The position of EU Project Officer supports the EU Project Manager in order to ensure the functioning, development and successful implementation of the VASCERN network activities (clinical care, research, teaching/training, telemedicine, patient registries, communication projects...) under the responsibility of the Coordinator and in cooperation with the network members.
Please send your CV and cover letter (in French and English) to julie.hallac@aphp.fr
Media
Gene-Based Diagnosis 101: How to Successfully Navigate the Diagnostic Journey
Global Genes has launched a series of toolkits to help patients successfully navigate the diagnostic journey. The toolkits entitled “Gene-Based Diagnosis 101: How to Successfully Navigate the Diagnostic Journey” include videos and checklists and provide insights from rare disease advocates and experts with personal and professional experience. The toolkits include an introduction to genetic testing and diagnosis, how to find a genetic counsellor, the next steps after diagnosis as well as information on gene therapy clinical trials.