NIH/FDA Virtual Workshop on Regulatory Fitness in Rare Disease Clinical Trials
From 17 to 18 May 2022
At : Online
Events
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
TAKING CPSS TO THE NEXT LEVEL – 2ND MEETING OF EXPERTS
From 02 to 03 July 2022
At : Geneva, Switzerland and 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
3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY
From 13 to 15 September 2022
At : Leiden, the Netherlands
International Scientific Symposium on the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders
From 15 to 19 September 2022
At : Rome, Italy and Online
From Paradigms to Paradoxes in Immunity and Immunopathology’ (PPII) international conference
From 07 to 09 October 2022
At : Freiburg, Germany
Innovation Bootcamp in Rare Diseases 2022 (IBRD2022)
On 12 October 2022
At : Brussels, Belgium
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
EIC funding call for RNA-based therapies and diagnostics for rare genetic diseases
The European Commission (EC) has adopted the 2022 work programme of the European Innovation Council (EIC), opening funding opportunities worth over €1.7 billion in 2022 for breakthrough innovators to scale up and create new markets. This includes €60.5 million to tackle three Transition Challenges, notably one on the development of RNA-based therapies and diagnostics for complex or rare genetic diseases.
The EIC Transition 2022 (HORIZON-EIC-2022-TRANSITION-01) call open on 1st March is intended to meet the following specific objectives:
- Advance, beyond the state-of-the-art, RNA delivery methods, including robust mRNA formulations, that would enable effective and safe delivery of mRNA into the cells;
- Design, develop and preclinical validate of novel miRNAs (miRNA lncRNA, tRNA or siRNA-based) therapies for complex or rare genetic diseases;
- Develop and validate novel RNA-based diagnostics and RNA-based predictive biomarkers that would allow for early and more accurate diagnosis and for favourable or non- post-treatment prognosis, respectively.
The starting point in the project should be a preliminary technology or protocol of an RNA-based therapy for complex or rare genetic diseases with unmet medical needs that demonstrates, in a lab or preclinical context, the essential features that underpin the disruptive nature of the innovation. The endpoint in the project should be a completely functional version of the technology suitable for clinical validation, supported by a sound and implementable commercialisation/exploitation strategy.
The funding call has the following deadlines: May 4th and September 28th.
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.
Courses and educational initiatives
RDD Foundation Course: "Inherited metabolic disease: a case based approach"
The Recordati Rare Diseases Foundation will hold a course entitled "Inherited metabolic disease: a case based approach" on 22-25 June in London, United Kingdom. The aim of this course is to provide an introduction to the diagnosis and management of Inherited Metabolic Diseases (IMDs) by using a case-based approach, with a focus on the different clinical presentations which can be seen with this diverse group of conditions. The cases will provide information on diagnosis as well as clinical management and will cover paediatric and adult patients. Registration to this course is open until 12 May 2022.
EJP RD: International Summer School on Rare Disease Registries and FAIRification of data
The EJP RD will hold its International Summer School on Rare Disease Registries and FAIRification of Data online (due to COVID-19) on 26-30 September 2022.
The training course is open to the international research community, clinicians, medical specialists, registry curators, database managers, healthcare professionals and rare disease patients’ representatives.
This course is composed of two training modules:
- During the first three days module (26th -28th September 2022), participants will learn what resources are needed for the establishment/maintenance of a high-quality registry as well as the features of successful strategies to ensure long-time sustainability ofthe registry, quality, legal and ethical issues in compliance with the EU (European Union) General Data Protection Regulation.
- During the second two days module “FAIRification of data”, (29th -30th September 2022) participants will deepen their knowledge on the single steps of the FAIRification of data and will discover the potential of FAIR registries. In this part a time slot will be allocated to discuss FAIR data management and FAIR project planning.
The programme of the Summer School can be found here.
Registration is now open here until the 29th of May 2022.
EJP RD Rare Diseases Training Course on Leadership and Communication Skills
The EJP RD will hold a training course entitled "“Training for patient representatives and advocates on leadership and communication skills" online on 10-11 November 2022.
The course aims to teach participants presentation, negotiation and leadership skills, through plenary presentations and role-playing sessions, in order to improve their ability to communicate and represent needs in an assertive way, to influence important decisions and to guide the strategic decision-making, when engaging with healthcare providers and other rare disease stakeholders. The course will moreover promote basic knowledge on networks, healthcare pathways, integrated care, e-health, research, therapeutic development and knowledge generation.
The International course is open to patient representatives involved in the 24 ERNs, including members of the European Patients Advisory Groups (ePAGS), and other RD patient advocates.
Registration is now open for reserve list only at this link until the 29 May 2022.
EJPRD free and online MOOC on Diagnosing Rare Diseases
In the context of European Joint Programme on Rare Diseases (EJP RD), the French Foundation For Rare Diseases, ERN Ithaca and ERN Genturis have co-developed the MOOC "Diagnosing Rare Diseases: from the Clinic to Research and back".
The third session of the MOOC will starts on April 18, 2022 and will be open for 7 weeks.
The goal of the course is to learn about rare genetic disease diagnosis and testing, to understand the impact of technology in diagnostic research and to gain insights into patients’ experiences of rare genetic disease.
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.
Solve-RD workshop: Navigating the Sandbox
This combined webinar and workshop will provide an update on Solve-RD Sandbox services/functions, and also consider future plans, needs and possibilities. The Sandbox is the place where Solve-RD data & results are being stored, shared and further (jointly) analysed.
Intended participants include ERN data controllers/producers (to ensure that their data is being managed in ways they are happy with) and DITF members (to ensure they have services they need now and going forward).
The workshop will take place online on 19 May 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.
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.
Job opportunities
Administrative Assistant
Please send your CV and cover letter to:
jobs.orphanet@inserm.fr
Responsible for the coordination of the international database of rare disease experts Orphanet (M/F) - Team Leader
Please send your CV and cover letter to:
jobs.orphanet@inserm.fr
Scientific Project Manager "Clinical Signs in Rare Diseases"
Please send your CV and cover letter to:
jobs.orphanet@inserm.fr
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
Scientific Project Manager Medical terminology for rare diseases
Please send your CV and cover letter to:
jobs.orphanet@inserm.fr
Media
Living with a rare disease worldwide: A book by the IPSEN Foundation and the National Press Foundation
The IPSEN Foundation, with the help of the National Press Foundation, has published an online book entitled “Rare but not alone- Living with a rare disease worldwide”. The book includes a selection of articles written by journalists worldwide who were previously trained on rare diseases. The book also includes video, online stories, radio broadcasts and photographs. The aim of this book is to shed light on what it means to live with a rare disease, notably in terms of access to healthcare, social interactions and stigmatisation. The work also aims to encourage journalists to cover this topic and includes free to download resources and videos from the training from the National Press Foundation website.