Endo-ERN Registries Symposium
From 23 to 24 April 2024
At : Milan, Italy
Events
RARE Drug Development Symposium
From 29 April to 01 May 2024
At : Philadelphia, USA
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
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)
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
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.
International Primary Immunodeficiencies Congress 2025
From 05 to 07 November 2025
At : Prague, Czech Republic
Courses and Educational Initiatives
EJP RD intermediate courses series on statistical methods for rare diseases clinical trials
The EJP RD recently lauched a new intermediate courses series on statistical methods for rare diseases clinical trials. The following courses are already available on EJP RD's YouTube channel on the following topics:
- Statistical Methodology for Very Small (and Very Large) Studies by Prof. Geert Molenberghs
- Bayesian Methods in Clinical Research by Prof. Emmanuel Lesaffre
Stay tuned for the release of the remaining four installments in the series!
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:
- 09/04 - ERN-ITHACA webinar on innovation in newborn screening across Europe: part 2
- 09/04 - Endo-ERN webinar on Adrenocortical carcinoma - diagnosis and personalized management 2024
- 10/04 - ERN ReCONNET webinar: Unravelling 50 years of mixed connective tissue disease (MTCD)
- 17/04 - ERN ReCONNET webinar: French practical guidelines for the diagnosis and the management of relapsing polychondritis (RP)
- 18/04 - EU-Ukraine series on spinal dysraphisms: Physical rehabilitation points to know (link to come)
- 22/04 - ERKNet/EURORDIS webinar: "Patient Involvement in Guidelines" by Matt Bolz-Johnson
- 24/04 - ERN ReCONNET webinar: 2023 ACR/EULAR antiphospholipid syndrome (APS) classification criteria
- 30/04 - ERN-Skin thematic group webinar on Cutaneous Diseases Related to DNA repair Disorders and photosensitivity (DNA+)
- 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)
- 15/05 - ERN ReCONNET webinar: Update on hypermobile type of ehlers-danlos syndromes (EDS)
- 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)
- 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
- 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.
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.
1st PReS course on non-infectious childhood chronic uveitis
From 11 to 12 April 2024
At : Florence, Italy
Thanks to an educational grant by the EJP RD, the Paediatric Rheumatology European Association (PReS) is organising its first course on Non-Infectious Childhood Chronic Uveitis (NCCU), to take place in Florence, Italy from 11-12 April 2024. The objective of the course is to improve participants' knowledge on NCCU, with a focus on diagnosis, clinical management and treatment. More information is available here.
ERN-RND Spring School 2024
From 17 to 19 April 2024
At : Online
From 17-19 April 2024, the ERN-RND will be holding their annual Spring School with a focus on Deep Brain Stimulation in Dystonia. Registration is not open yet, but a preliminary programme has been made available giving an idea of the topics which will be covered during the workshop. For more information, visit the network's website or contact Christine Diaite-Hecht (Christine.Diaite-Hecht@med.uni-tuebingen.de).
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.
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.
Call for research projects on pigmentary retinopathy
The Fondation Maladies Rares and association Bardet-Biedl France (BBS France) have formed a partnership to support and stimulate biomedical research on pigmentary retinopathy for the improvement of Bardet-Biedl syndrome (BBS). All biomedical disciplines are eligible. Projects must explicitly formulate a research question addressing issues specifically related to pigmentary retinopathy, and must demonstrate their novelty, feasibility, and the expertise of the researcher(s) involved. Financial support up to 90,000 euros is available over a maximum duration of 24 months. Proposals must be submitted by 4 April 2024 at 5pm 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.
Job Opportunities
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.
Web developer - Python
Orphanet is looking to hire a Web developer - Python. The job listing is available here.
If interested, please send your CV and cover letter to jobs.orphanet@inserm.fr.
Scientific monitoring and content acquisition manager
Orphanet is looking to hire a Scientific monitoring and content acquisition officer. The job listing is available here.
If interested, please send your CV and cover letter to jobs.orphanet@inserm.fr.
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 Jullien Poulain and Virginie Duigou, President of Neuro IFF France, discuss the impact of ultra-rare conditions such as Fatal Familial Insomnia.
Confronting tokenism in rare disease clinical trials
A column was recently published in the online publication Clinical Leader, discussing the intersections of systemic discrimination and racism with rare disease research. Clinical trials in all areas face problems of diversity in their study populations, however this challenge is exacerbated in the case of rare diseases. In this column, Jenifer Ngo Waldrop, executive director of the Rare Disease Diversity Coalition (RDDC), discusses the all-too-common reality faced by patients of colour with rare diseases, and what paths forward exist for a more inclusive and diverse rare disease research landscape.