EuroDysmorpho 2024
From 18 to 21 September 2024
At : Ljubljana, Slovenia
Events
Global Genes Week in RARE
From 26 to 28 September 2024
At : Kansas City, Missouri, USA
From 26-28 September 2024, Global Genes will be holding their annual Week in RARE, featuring the RARE Health Equity Forum and RARE Advocacy Summit.
In preparation for the event, Global Genes has issued a call for special interest session proposals. Submissions are welcome for both traditional presentations and panel discussions. Learn more here.
World Orphan Drug Congress Europe 2024
From 22 to 25 October 2024
At : Barcelona, Spain
TREAT-NMD: 15 years of TACT
From 31 October to 01 November 2024
At : Boston, United States
Swiss Rare Disease Summit
On 26 November 2024
At : Bern, Switzerland
ERICA General Assembly & ERN Research Conference
From 11 to 13 December 2024
At : Udine, Italy
8th International TREAT-NMD Conference
From 06 to 08 February 2025
At : Dubai, United Arab Emirates
RE(ACT) Congress and IRDiRC Conference 2025
From 05 to 07 March 2025
At : Brussels, Belgium
2nd ERN ReCONNET International Congress on Rare and Low-Prevalence Connective Tissue Diseases
From 09 to 11 April 2025
At : Prague, Czech Republic
International Primary Immunodeficiencies Congress 2025
From 05 to 07 November 2025
At : Prague, Czech Republic
Courses and Educational Initiatives
TREAT-NMD: Launch of the POD-NMD platform
TREAT-NMD has launched POD-NMD, a freely available, web-based platform designed for specialist neuromuscular and community-based physiotherapists and occupational therapists. An evolution from the previous OPEN-TACT platform, POD-NMD aims to promote best practices in the assessment and management of neuromuscular diseases. On the website, users have access to a range of materials such as manuals, worksheets, presentations, and podcasts covering various topics. The platform also offers access to e-learning materials, including the new courses "Timed tests" and "NSAA reliability."
TREAT-NMD: Spinal muscular atrophy guide for families now available in Croatian
A translation of TREAT-NMD's Standards of Care Family Guide into Croatian is now available. The guides are based on the 2017 Standards of Care for spinal muscular atrophy (SMA) and provide valuable information for families and patients about aspects of care and treatment. With this latest translation, the SMA Family Guide is now available in 10 different languages including French, Spanish, Ukrainian and Macedonian.
Solve-RD industry workshop: Recording available
On 20 June, the Solve-RD project organised a webinar titled "Solve-RD industry workshop: Strategies for omics data analysis & reanalysis." The aim was to familiarise participants from industry with the strategies developed by the project for omics data analysis and reanalysis. A recording of the event is now available on Solve-RD's YouTube channel.
EuroBloodNet: Expert training program on AI for haematology
The ERN EuroBloodNet, in partnership with GenoMed4All, will be holding a second iteration of their educational program on AI in haematology. Aimed at an expert audience, the program aims to increase awareness of the cutting-edge advances of artificial intelligence for the diagnosis, treatments and follow-up of three different rare haematological clinical domains: sickle cell disease, myelodysplastic syndromes, and multiple myeloma. This year’s edition of the program will run from 18th September-23rd October and will consist of 6 webinars. Registration is free but mandatory.
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:
- 03/09 - The ERN EURO-NMD Registry Hub Project
- 24/09 - ERN-RND & EURO-NMD joint webinar on Clinicala neurophysiology in dystonia
- 25/09 - Endo-ERN webinar on Turner syndrome and fertility options
- 22/10 - ERN-RND & EURO-NMD joint webinar on Neurogeriatric aspects and neurological aspects in palliative care of MSA, PSP and advanced PD
- 05/11 - ERN-RND & EURO-NMD joint webinar on Diagnostic approach to childhood-onset chorea
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.
Recordati Foundation course on adrenal failure
From 17 to 19 October 2024
At : Stockholm, Sweden
The Recordati Rare Diseases Foundation is organising a course for adult and paediatric endocrinologists titled "Adrenal failure: update on causes, diagnosis, treatment, crisis and life expectancy." It will focus on defining and exploring all types of adrenal failure, with a focus on topics such as diagnostic challenges, autoimmune mechanisms, and treatment modalities. The training will be held in-person in Stockholm, Sweden from 17-19 October 2024. More information about registration, fees, and selection criteria is available here.
TREAT-NMD Advisory Committee for Therapeutics symposium
On 31 October 2024
At : Boston, United States
On 31st October 2024, TREAT-NMD's Advisory Committee for Therapeutics will be holding their first symposium discussing the development of therapies in rare neuromuscular disease. Organised as a series of interactive sessions, the symposium will give participants an opportunity to hear about the knowledge that has been gleaned over the past 15 years of the Committee's operation, including learnings from past mistakes, and valuable insights into the challenges and opportunities within the field. The symposium is designed for industry professionals involved in developing treatments for rare neuromuscular diseases, and registration is currently open.
Grants
Share4Rare Call4Projects (EXTENDED)
Update: the submission deadline for this call has been extended to 31st August 2024 at 17:00 CEST
The Share4Rare project, which receives funding from the European Commission through a Horizon2020 grant, has announced the launch of the fourth edition of their Call4Projects.
In support of Share4Rare's mission to foster the development of research projects which emphasise the perspectives of patients, applications are welcome from patient organisiatons and research groups whose proposed projects contribute to a deeper understanding of rare diseases.
Successful applicants will comprehensive assistance from the Share4Rare team throughout the entire research process. The application deadline is 31st August 2024 at 17:00 CEST.
Foundation for Rare Diseases Call for Proposals on new therapeutic molecules
The French Foundation for Rare Diseases has issued a call for proposals titled "Identifying new therapeutic molecules for rare diseases." It is intended to support research scientific projects that aim at identifying new molecules with potential translation to therapy to develop innovative treatments for patients living with rare diseases. Three steps of drug discovery will be considered in the call:
- Projects based on a high content/throughput screening (HCS/HTS) approach using compound libraries, towards the discovery of active molecules called "hits" with therapeutic potential.
- Projects based on a mechanistic screening focused on a reduced number of specific signaling pathways to refine the implication of targeted molecules previously identified through a larger screening.
- Projects based on the hit to lead process towards the optimisation of preidentified compounds to approach drug-like characteristics.
Proposals are welcome from research projects covering all rare diseases. Principal investigators must belong to a French research team, affiliated with academia and/or the clinical/public health sector. Early career scientists are particularly encouraged to apply as principal investigator. The maximum funding available is €40,000 per project, and the submission deadline is 3 September 2024 at 17:00 CET.
For further details on eligibility and the application process, please refer to the call text.
Foundation for Rare Diseases & LAMA2 France call for projects on merosin-deficient congenital muscular dystrophy
The LAMA2 France Association, in partnership with the Foundation for Rare Diseases, has launched a call for research projects on merosin-deficient congenital muscular dystrophy. The call is open to innovative projects from all biomedical disciplines which are conducting either basic or translational research aimed at the development of therapeutic strategies. Funding is available up to €25,000 for a maximum duration of 24 months. The submission deadline is 5th September 2024 at 17:00 CEST. More information on the submission process and eligibility criteria is available here.
TREAT-NMD 2025 Conference Call for Abstracts
TREAT-NMD's 8th international conference on translational medicine in inherited neuromuscular diseases will be held from 6-8 February 2025 in Dubai, United Arab Emirates, and poster abstract submissions are currently open. Posters should align with the themes and focus areas of the conference. This year's poster theme is "Networking," and examples of welcome poster topics include:
- Collaborative projects which highlight initiatives facilitating the enhancement of healthcare for rare neuromuscular conditions through cooperation and partnership;
- Partnership working that shows how an organisation has collaborated with TREAT-NMD to benefit the global neuromuscular community;
- Utilisation of TREAT-NMD resources to advance research, clinical care, or patient advocacy efforts.
The deadline for abstract submissions is 18th October 2024, and notifications of acceptance will be sent on 8th November.
Job Opportunities
Scientific project manager: Epidemiology
Orphanet is looking to hire a Scientific project manager: Epidemiology. The job listing is available here.
If interested, please send your CV and cover letter to jobs.orphanet@inserm.fr.
Scientific project manager: Nomenclature and scientific writing
Orphanet is hiring for a Scientific project manager: Nomenclature and scientific writing. The job listing is available here.
If interested, please send your CV and cover letter to jobs.orphanet@inserm.fr.
EURO-NMD: Project Officer
The ERN EURO-NMD is looking to hire a Project Officer, based in Paris, France. The job listing is available here.
Media
New Rare on Air episode
A new episode of Rare on Air, EURORDIS' podcast dedicated to rare diseases, is available now. In this episode, host Julien Poulain speaks with Jane Velkovski, a young advocate for people with spinal muscular atrophy and other disabilities. Together, they discuss Jane's advocacy journey and how football has allowed him to make a difference.