Plenary of the Global Alliance for Genomics and Health (GA4GH)
From 23 to 24 September 2022
At : Barcelona, Spain
Events
INTERNATIONAL HUMAN GENE THERAPY CONFERENCE
From 27 to 29 September 2022
At : Online and in Melbourg, Australia
Hackathon for Rare Diseases and Cancers
From 04 to 05 October 2022
At : Online
ICPerMed Conference – Prelude to the Future of Medicine
From 06 to 07 October 2022
At : Paris, France
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
7th International Hybrid Annual Congress of the World Muscle Society
From 12 to 16 October 2022
At : Halifax, Canada
8th International Symposium on NBIA
From 14 to 16 October 2022
At : Lausanne, Switzerland
The International Congress on Spinal Muscular Atrophy
From 22 to 24 October 2022
At : Barcelona, Spain
ASHG Annual Meeting 2022
From 26 to 30 October 2022
At : Los Angeles, USA
All-ePAG meeting
From 15 to 18 November 2022
At : Online
CLINICAL TRIALS IN RARE DISEASES : A VIRTUAL EVENT
On 08 December 2022
At : Online
Third International Summit on Human Genome Editing
From 07 to 09 March 2023
At : London, United Kingdom
2023 RE(ACT) Congress & IRDiRC Conference
From 16 to 19 March 2023
At : Berlin, Germany
The Translational Science of Rare Diseases - From Rare to Care IV
From 04 to 06 May 2023
At : Tutzing, Germany
Grants
ERN Research Training Workshops funding opportunity: Now open until October 1st
The ERN Research Training Workshops funding opportunity is now open for applications until October 1st. The goal of the workshops is to train researchers and clinicians affiliated to ERN- Full Members or – Affiliated Partners in relevant topics on research in rare diseases. Training themes may include innovative research methodologies, diagnostic research topics, interdisciplinary treatment approaches, such as gene therapy and transplantation, etc. Moreover, the workshops will be aiming to provide a cross-ERN added value.
The workshops will be delivered as two-day events. The costs for the workshop organization will be covered up to a limit of €25,000 (venue, administrative, audio-visual and IT facilities essential for the workshop, catering, travel and accommodation expenses of workshops participants and invited speakers, if envisaged).
The workshops selected for funding will be attended only by individuals affiliated to ERN institutions. Participants will be selected by the coordinator of the ERN managing institution and the workshop organizer based on pre-defined criteria.
Innovative Health Initiative launches two calls for proposals
The Innovative Health Initiative (IHI) has launched its first calls for proposals, with topics on diseases such as cancer, cardiovascular disease and neurodegenerative diseases, as well as cross-cutting issues like health data and early stage studies of medical devices.
- IHI will contribute up to EUR 135 million to projects funded under IHI call 1. When preparing their budgets, applicants will have to ensure that at least 45 % of the total project costs are met via contributions from IHI private partners and/or IHI contributing partners. IHI call 1 is a single-stage call, meaning applicant consortia will need to include industry / contributing partners who will bring in kind or financial contributions to the project. They will have to submit a full proposal by the deadline: 20 September 2022
- IHI call 2 is a two-stage call, meaning applicant consortia should not include industry / contributing partners. They will have to submit a short proposal by the deadline. The winning consortium will then work with the industry partners that designed the topic and submit a full proposal at a later date. For IHI call 2, the IHI contribution is around EUR 22 million.
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.
Courses and educational initiatives
EJPRD free and online MOOC on Diagnosing Rare Diseases: New Facilitation Window
The French Foundation for Rare Diseases is delighted to announce the upcoming opening of a new facilitation window of the MOOC "Diagnosing Rare Diseases: from the Clinic to Research and back". Mentors, experts in the field, will be available online to respond to you as you progress through the MOOC.
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 this MOOC.
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.
RDI-WHO Webinar: The International Classification of Diseases
As part of WHO ICD-11 webinar series, the Classifications and Terminologies Unit in collaboration with the Healthier Populations Division at WHO and Rare Diseases International is organising an ICD-11 webinar that will be held on September 27th, 2022 at 12:00 UTC/14:00 CEST.
4th Neuromuscular Translational School
The Neuromuscular Translational School, organized by EURO-NMD and TREAT-NMD, focuses on therapy development from bench to bedside with a focus on neuromuscular disorders. The Translational School contains lectures about the current state of the art of acquired and genetic neuromuscular diseases, the different steps of drug development and the tools needed for this (outcome measures, biomarkers etc.). It also stresses how patients should play a role in these steps and teaches how to communicate research to patients and the general public during interactive workshop sessions.
The Translational School will take place in autumn this year from November 21-25 in Leiden University Medical Center, the Netherlands.
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. Registrations are now open for several workshops.
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
Scientific Project Manager, Medical terminology for rare diseases
Please send your CV and cover letter to:
jobs.orphanet@inserm.fr
Team Leader, Coordination of the rare disease experts international database
Please send your CV and cover letter to:
jobs.orphanet@inserm.fr
ERA Chair Holder at the Izmir Biomedicine and Genome Center
The Izmir Biomedicine and Genome Center (IBG) seeks a senior-level researcher on rare diseases with an excellent track record to serve as ERA Chair holder of the Rareboost project.
IBG is an advanced biomedical research and innovation center with modern, state-of-the art infrastructure and facilities. Being the only national Centre of Excellence in the biomedical field makes IBG the prime address for biomedical research in Turkey. (https://ibg.edu.tr)
The ERA Chair will be recruited by IBG for the duration of 5 years with a follow-up opportunity for tenure. The successful candidate will be expected to establish an interdisciplinary top-level research team at IBG and lead the cutting-edge omics research with a focus on rare diseases with a translational approach.
The detailed job description and required qualifications can be found here. The evaluation of the candidates will start on September 16th, 2022.