GA4GH All of Us Research Program fireside chat
On 02 February 2024
At : Online
Events
UCSF Rare Disease Symposium
On 06 February 2024
At : San Francisco, USA
Joint HMA/EMA multi-stakeholder workshop on patient registries
From 12 to 13 February 2024
At : Amsterdam, Netherlands (hybrid)
RareX 2024
From 14 to 17 February 2024
At : Johannesburg, South Africa
Rare Disease Day 2024
On 29 February 2024
At : Worldwide
On 29 February 2024, organisations around the world will organise events to bring together members of their local rare disease communities. To find specific events near you, visit the "Find Events Near You" tab on the Rare Disease Day website.
1s t REMEDi4ALL International Drug Repurposing Conference
From 06 to 07 March 2024
At : Barcelona, Spain
FDA Workshop on Enhancing Adoption of Innovative Clinical Trial Approaches
From 19 to 20 March 2024
At : Hybrid
Endo-ERN Registries Symposium
From 23 to 24 April 2024
At : Milan, Italy
12th European Conference on Rare Diseases & Orphan Products
From 15 to 17 May 2024
At : Brussels, Belgium (hybrid)
MENA Congress for Rare Diseases
From 16 to 19 May 2024
At : Beach Rotana, Abu Dhabi, UAE
European Human Genetics Conference 2024
From 01 to 04 June 2024
At : Berlin, Germany (hybrid)
European Society of Human Genetics Conference 2024
From 01 to 04 June 2024
At : Berlin, Germany
Living Rare, Living Stronger: NORD Patient and Family Forum
From 07 to 08 June 2024
At : Los Angeles, USA
2024 Rare Impact Awards
On 08 June 2024
At : Los Angeles, USA
2nd World Congress on Rare Skin Diseases
From 12 to 14 June 2024
At : Paris, France
International Primary Immunodeficiencies Congress 2025
From 05 to 07 November 2025
At : Prague, Czech Republic
Courses and Educational Initiatives
Upcoming ERN webinars
The European Reference Networks often organise educational webinars and other online meetings for their members and/or other interested parties. Below is a list of some upcoming events that may be of interest to our readers:
- 01/02 - EU-Ukraine series on spinal dysraphisms: Neurogenic bladder classification, pathophysiology, diagnosis (link to come)
- 06/02 - ERN-RND & EuroNMD joint webinar on Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities
- 06/02 - Tuesday lunch with RITA: Which patients with IEI should be referred for HSCT?
- 07/02 - ERNICA Research collaboration webinar: Patient-Reported Outcome Measures and their Application in Recent Pediatric Surgical Research
- 08/02 - EU-Ukraine series on spinal dysraphisms: Urodynamics (link to come)
- 08/02 - Endo-ERN: Pregnancy management in CAH
- 14/02 - ERN GENTURIS webinar: PTEN hamartoma tumour syndrome (PHTS, Cowden syndrome): update on canceer risks and yield of surveillance
- 20/02 - ERN-RND & EuroNMD joint webinar on newborn screening in leukodystrophies
- 22/02 - EU-Ukraine series on spinal dysraphisms: Urinary tract infection and vesico ureteral reflux management (link to come)
- 27/02 - ERN-RND & EuroNMD joint webinar on neuropsychological assessment in primary progressive aphasia - recommendations and pitfalls in clinical practice
- 28/02 - ERN GENTURIS webinar: FFamilial malignant melanoma - the dermatologist's perspective
- 05/03 - Tuesday lunch with RITA: Recognising autoinflammatory diseases
- 07/03 - EU-Ukraine series on spinal dysraphisms: First line management, clean intermittent catheterization, and anticholinergics (link to come)
- 12/03 - ERN-RND & EuroNMD joint webinar on The spectrum of genetic synucleinopathies
- 21/03 - EU-Ukraine series on spinal dysraphisms: Renal function (link to come)
- 02/04 - Tuesday lunch with RITA: How do I treat monogeneic SLE and interferonopathies?
- 18/04 - EU-Ukraine series on spinal dysraphisms: Physical rehabilitation points to know (link to come)
- 07/05 - Tuesday lunch with RITA: Monogenic vasculities (in collaboration with EUVAS)
- 14/05 - Tuesday lunch with RITA: Updated recommendation on ANCA associated vasculitis (in collaboration with EUVAS)
- 21/05 - Tuesday lunch with RITA: Infections in ANCA associated vasculitis (in collaboration with EUVAS)
- 28/05 - Tuesday lunch with RITA: Vasculitis patient powered research network activities; Vasculitis pregnancy (in collaboration with EUVAS)
- 04/06 - Tuesday lunch with RITA: How do I diagnose and treat monogenic causes of IBD?
- 25/06 - ERN-RND & EuroNMD joint webinar on Autoimmune parkinsonism
- 02/07 - Tuesday lunch with RITA: How do I treat uveitis?
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.
Solve-RD "solvathons"
The Solve-RD project is using the remaining time of the project to organise a series of “solvathons” – data analysis and interpretation workshops on different topics. Each workshop focuses on analysing a different type of data, with the goal of resolving undiagnosed cases of rare diseases. The remaining solvathons are:
- Solvathon on LR-WGS and OGM analysis (in Nijmegen, the Netherlands): 19-21 February 2024
- Solvathon on multi-omics (in Barcelona, Spain): 6-8 March 2024
More information about the workshops is available on Solve-RD’s website.
EuroNDD 2024
From 04 to 05 April 2024
At : Lisbon, Portugal
From 4-5 April, 2024, the ERN ITHACA is organising the annual European workshop on the multifaceted care and research of genetic neurodevelopmental disorders (EuroNDD). The two-day workshop is organised around six themes, covering areas relevant to clinical care, pre-clinical research, and social aspects of disease. Through a series of lectures, presentations, and round tables, the workshop will facilitate exchanges between members of various disciplines in order to disseminate knowledge about basic and translational research involving patients with neurodevelopmental disorders.
Participation in EuroNDD is free of charge, however registration is required due to a limited number of available spaces. The call for abstracts runs until 30th November, and registration is open until 22nd December.
Grants
Medical Research Future Fund funding opportunities
The Medical Research Future Fund has several grant opportunities open for submissions which are relevant to rare diseases. These opportunities may be of particular interest to teams based in Australia. They are:
- Clinical Trials Activity Grant - Funding for novel clinical trial designs, including n of 1 clinical trails. Rare disease is a focus of streams 1 and 2, and the initial submission date is 1st May 2024.
- 2023 Multidisciplinary Models of Primary Care Grant (Streams 1, 2 and 3) / 2023 Multidisciplinary Models of Primary Care (Stream 4) - These opportunities can be leveraged to address issues in the Australian rare disease workforce. Initial submissions close on 1st July and 13th March 2024, respectively.
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.
Another funding opportunity from the OOPD is available for fiscal years 2023-2025 to support clinical trials of products evaluating efficacy and/or safety in support of a new indication or change in labeling to address unmet needs in rare diseases or conditions. The grant is titled "Clinical studies of Orphan Products Addressing Unmet Needs of Rare Diseases (R01)." The receipt dates for this opportunity are 24 October 2023 and 22 October 2024.
Project CASK Grant Program 2024
Project CASK is seeking proposals to advance research that supports therapeutic development for CASK gene disorders. Submissions are open to all individuals holding a faculty-level appointment at an academic institution or a senior position at a non-profit institution or foundation. At least two awards of $50,000 for 12 months will be distributed, and at least one award of up to $250,000 over two years. Initial letters of interest must be submitted by 16 February 2024.
2024 CDKL5 Pilot Grant Program
The Loulou Foundation''s CDKL5 Pilot Grant Program provides, in partnership with the Orphan Disease Centre, a one-year grant of $150,000 to support research related to CDKL5 Deficiency Disorder. Applications are open to all individuals holding a faculty-level appointment at an academic institution or a senior scientific position at a non-profit institution or foundation. Biopharmaceutical companies are not eligible. Letters of intent must be submitted before Friday, 16 February 2024 at 5pm EST.
CZI Rare As One (Cycle 3)
The Chan Zuckerberg Initiative is accepting applications for five-year projects from patient-led rare disease advocacy organisations to join the Rare As One Network. Projects should be dedicated to accelerating research across channelopathies, ciliopathies, and/or inborn errors of metabolism. Up to 30 grants will be awarded, for $800,000 total costs over five years (to be distributed on a pre-determined schedule). Applications must be submitted before 22 February 2024 at 5pm PST.
2024 Research call on "Mechanisms and measurement of disease progression in the early phase of neurodegenerative diseases"
The EU Joint Programme - Neurodegenerative Disease Research (JPND) has issued a transnational call for mechanisms and measurement of disease progression in the early phase of neurodegenerative diseases. Proposals may be submitted by research groups working in universities or other higher education institutions, public or private research organisations, hospitals and other health/social care settings, or commercial companies. Each proposal must involve 3-6 partners from at least three participating countries, and must focus on one or several of a list of neurodegenerative diseases, including rare disorders such as prion diseases and Huntington's disease. The total funding available for the call is approximately 18 million euros. Pre-proposals must be submitted no later than 12:00 CET on 5 March 2024. A full list of applicable disorders and participating countries is available on the call's webpage.
Joint Transnational Call on Identification or Validation of Targets for Personalised Medicine Approaches
The European Partnership for Personalised Medicine (EP PerMed) has launched a joint transnational call for proposals on "Identification or Validation of Targets for Personalised Medicine Approaches (PMTargets)." Each applying consortium must involve at least three partners from three different participating countries. Projects from all disease areas are eligible. The total available budget for the call is over 45 million euros. The deadline to submit pre-proposals is 5 March 2024 at 17:00 CET. A full list of participating countries is available on the call's webpage.
Franco-German call for proposals in Social Sciences and Humantities - FRAL 2024
The French National Research Agency (Agence nationale de la recherche, ANR) has launched itts 18th Franco-German call for proposals in Social Sciences and Humanities (SSH), in colaboration with the Deutsche Forschungsgemeinschaft (DFG). This call aims to fund research projects involving at least one French and one German team, and is open to all research areas within the SSH. Research projects do not have to relate to Franco-German objects and/or field research. Proposals must be submitted in parallel to both the ANR and DFG by 6 March 2024 at 13:00 CET.
IHI calls 6 & 7
The Innovative Health Initiative (IHI) has announced the launch of IHI call 6 and IHI call 7.
Call 6 is a two-stage call for proposals with the following topics:
- Support healthcare system resilience through a focus on persistency in the treatment of chronic diseases
- Development of evidence based practical guidance for sponsors on the use of real-world data / real-world evidence
The initial submission deadline for call 6 is 16 April 2024 at 17:00 CET.
Call 7 is a single-stage call for proposals with the following topics:
- Improving clinical management of heart disease from early detection to treatment
- User-centric technologies and optimised hospital workflows for a sustainable healthcare workforce
- Clinical validation of biomarkers for diagnosis, monitoring disease progression and treatment response
The deadline for call 7 is 22 May 2024 at 17:00 CET.
Job Opportunities
Media
New Rare on Air and Rare on Air: Stories podcast episodes from EURORDIS
EURORDIS has launched a new podcast, Rare on Air: Stories, highlighting the stories of individuals living with rare diseases. The first four episodes are out now, so go ahead and give them a listen!
A new episode has also been released of EURORDIS' other podcast, Rare on Air. This episode, "Gene therapies: Promoting development and expanding access," discusses the working of gene therapies, as well as the proposed EU reforms to boost incentives for rare disease medicine development.