12th European Conference on Rare Diseases & Orphan Products
From 15 to 17 May 2024
At : Brussels, Belgium (hybrid)
Events
MENA Congress for Rare Diseases
From 16 to 19 May 2024
At : Beach Rotana, Abu Dhabi, UAE
Global Rare Diseases Research Symposium
From 23 to 25 May 2024
At : Shanghai, China
EJP RD Final Conference
From 27 to 28 May 2024
At : Bari, Italy (hybrid)
World Health Assembly: RDI Side Event
On 29 May 2024
At : Geneva, Switzerland
ERN-ITHACA 9th International Meeting on Rare Disorders of the RAS-MAPK Pathway
From 31 May to 01 June 2024
At : Berlin, Germany
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
10th Congress of the European Academy of Neurology
From 29 June to 02 July 2024
At : Helsinki, Finland
EuroDysmorpho 2024
From 18 to 21 September 2024
At : Ljubljana, Slovenia
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
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
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:
- 21/05 - Tuesday lunch with RITA: Infections in ANCA associated vasculitis (in collaboration with EUVAS)
- 22/05 - ERN GENTURIS webinar: Molecular diagnosis of the BRCA2 c.156_insAlu, a Portuguese founder pathogenic variant
- 28/05 - Tuesday lunch with RITA: Vasculitis patient powered research network activities; Vasculitis pregnancy (in collaboration with EUVAS)
- 28/05 - ERN-Skin thematic group webinar on Ectodermal Dysplasias including Incontinentia Pigmenti and p63-associated disorders (ED)
- 29/05 - ERN ReCONNET webinar: Everything you always wanted to know about ehlers-danlos syndromes (EDS)
- 04/06 - Tuesday lunch with RITA: How do I diagnose and treat monogenic causes of IBD?
- 04/06 - ERN-RND & EURO-NMD joint webinar on Genetic testing in ataxias and HSP - in whom, when and how
- 19/06 - ERN ReCONNET webinar: Preconception care in patients with connective tissue diseases
- 25/06 - ERN-Skin thematic group webinar on Acquired immunological LOw prevalence and Complex AdulT diseases of thE SKIN (ALLOCATE)
- 25/06 - ERN-RND & EURO-NMD joint webinar on Autoimmune parkinsonism
- 26/06 - ERN ReCONNET webinar: Explaining systemic sclerosis (SSc) to family and friends
- 02/07 - Tuesday lunch with RITA: How do I treat uveitis?
- 17/07 - ERN ReCONNET webinar: The optimization of glucocorticoid therapy for long term treatment in connective tissue diseases
- 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.
ERN RARE-LIVER 5th Autoimmune Hepatitis Research Workshop
From 27 to 28 June 2024
At : Hanover, Germany
From 27-28 June 2024, the ERN RARE-LIVER will be holding their 5th annual workshop on research in autoimmune hepatitis in Hanover, Germany. The two-day event will feature updates on ongoing clinical project, diagnostic and predictive improvements, and the understanding of AIH pathogenesis, as well as keynote lectures and a workshop on data curation and AI approaches. During registration, participants are asked to specify whether they would like to propose a new project, present an update on an ongoing project, or present preliminary research data. The workshop preceeds the 20th HepNet Symposium at Hanover Medical School, a national symposium with special sessions in English which may be of interest to participants.
EURO-NMD and TREAT-NMD 6th Neuromuscular Translational Summer School
From 09 to 12 July 2024
At : Leiden, Netherlands
From 9-12 July 2024, the ERN EURO-NMD and TREAT-NMD will be hosting their 6th annual Neuromuscular Translational Summer School. This programme provides participants with the opportunity to learn about a range of topics related to acquired and genetic neuromuscular diseases, such as the current state of the art in disease management and the drug development process. A specific emphasis will be placed on the role patients should play in each of these steps, with learnings on how to communicate research to patients and the general public.
The School will be held at Leiden University Medical Center in The Netherlands, and pre-registration is now open. Only a limited number of places are available, and registration will close once the maximum number of eligible participants is reached.
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
SMA Europe 12th call for research projects
SMA Europe has launched their biennial call for research proposals on spinal muscular atrophy (SMA). This call aims to support projects which address the needs of people living with SMA, and which demonstrate a clear pathway to impact in the short or longer term. Particular priority will be given to projects concentrating on the following areas:
- Reviving the motor unit in patients with SMA with a specific interest for the role of NMJ (dys)function (including skeletal muscle and development/developmental vulnerability of motor neurons in the spinal cord/brain stem).
- Biomarkers within and beyond the neuromuscular system.
- How metabolism is affected in SMA and how this might influence peripheral organs.
Two types of awards are available, namely operating grants and postdoctoral fellowships. To be eligible for an operating grant, principle investigators must be a professional or faculty member at an appropriate educational, medical or research institution or SME biotech, preferably located in Europe, among other criteria. The maximum amount for an operating grant is €150,000.
Postdoctoral fellowships are open to applicants already belonging to a laboratory, preferably in Europe, and must hold a doctorate degree. These grants must be within European norms and will not exceed €150,000.
Applications for both types of awards must be submitted before 13th May 2024 at 17h00 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.
ARSACS research call for proposals 2024
The Ataxia Charlevoix-Saguenay Foundation has opened their annual call for proposals on ARSACS research. The purpose of these grants is to encourage and accelerate the development of a treatment for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS). Both fundamental and clinical research projects are accepted.
Funding is available as grants of up to $100,000 CAN for a 12-month period, and with the possibility of renewal. An additional Seed Grant of $25,000 is available for projects who have not previously received funding from the Foundation.
Initial applications must be submitted by 24th May 2024, with successful applicants being informed in August. More information is available here.
Share4Rare Call4Projects
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 15th July 2024 at 17:00 CEST.
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: Nomenclature and terminology alignments
Orphanet is looking to hire a Scientific project manager: Nomenclature and terminology alignments. The job listing is available here.
If interested, please send your CV and cover letter to jobs.orphanet@inserm.fr.
Administrative management assistant
Orphanet is hiring for an Administrative management assistant. The job listing is available here.
If interested, please send your CV and cover letter to jobs.orphanet@inserm.fr.
Media
New video on EJP RD-funded projects
The European Joint Programme on Rare Diseases has released a new video highlighting the vital role of patient involvement in research, and the significant changes that have been observed over the past five years. You can watch it here.
CORD launches new interview series
The Canadian Organization for Rare Disorders has launched a new interview series featuring rare disease patients as part of their #FightForOurLives campaign. These interviews will provide patients with the opportunity to share their powerful stories, and shed light on the urgent need for improved rare disease care in Canada.
EURORDIS Rare on Air: New podcast episode
A new episode of Rare on Air, EURORIDS' podcast dedicated to rare diseases, is available now. In this episode, host Julien Poulain sits down with Nicole Faccio, an influencer active on Instagram and TikTok who won the 2023 EURORDIS Social Media Award, to talk about her experiences and perspectives on living with lymphedema.
New EURETINA and ERN-EYE podcast episode
The European Society of Retina Specialists (EURETINA) has released a new podcast episode in which they talk to Pr Bart Leroy, ERN-EYE member, and Pr Mark Pennesi about the topic "Gut bacteria and eye diseases?". This episode is a collaborative effort between EURETINA and ERN-EYE, highlighting innovative research and its implications for ophthalmology.