Webinar - Reimagining rare disease detection: Who needs to be at the table?
On 15 April 2022
At : Online
Events
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
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
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.
EJP RD: International Summer School on Rare Disease Registries and FAIRification of data
The International Summer School on Rare Disease Registries and FAIRification of Data is a part of a series of training activities proposed by the EJP RD. The course will take place on 26-30 September 2022 in Rome This course is composed of two training modules. The first module aims at presenting to participants the resources needed for the establishment and maintenance of a high-quality registry. The second module is dedicated to the FAIRification of data and and FAIR registries.
Registration is now open until the 13th of April 2022.
EJP RD training for patient representatives on leadership and communication skills
The EJP RD will hold an international course entitled “Training for patient representatives and advocates on leadership and communication skills” in Rome, Italy on 10-11 November 2022.
The course is a 2 days training preceded by webinars. 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.
Registration is now open at this link until the 13th of April 2022.
RRD Foundation Course: “Inborn errors of metabolism: facts, doubts and future of nutrition therapy”
The Recordati Rare Diseases Foundation will hold a course entitled “Inborn errors of metabolism: facts, doubts and future of nutrition therapy” on 2-4 June in Zadar, Croatia. The aim of this course is to provide participants with basic knowledge about clinical presentation and dietetic management of inherited metabolic diseases, as well as information on new trends in this field. Registration to the course is now open until 25 April 2022.
The 8th Rare Diseases Summer School
The 8th Rare Disease Summer School organised by ITINERARE, a recently established University Research Priority Program of the University of Zurich focusing on “Innovative Therapies in Rare Diseases", will be held at the Kartause Ittingen, Warth (Canton Thurgau) close to Zurich from July 13th to 15th, 2022.
The program includes lectures by national and international rare disease experts on topics ranging from disease mechanisms and animal models to improving diagnoses and developing novel therapies. In addition, there will be workshops, poster viewing sessions and selected oral presentations by participants. Travel grants are available to PhD students and young Postdocs to support their attendance to the event.
Applications are now open until 2 May 2022.
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.
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:
- 15th April 2022, 6pm CET:
- Surgery in NF2
- Chaired by Michel Kalamarides, MD, PhD, Hôpital Pitié-Salpêtrière , Paris, France
Job opportunities
Scientific Project Manager Medical terminology for rare diseases
Please send your CV and cover letter to:
jobs.orphanet@inserm.fr
Administrative Assistant
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