ERICA & EJP RD Joint Conference
From 20 to 21 November 2023
At : Amsterdam, Netherlands
Events
RARE2023: The 5th International Conference on Rare Diseases
From 30 November to 01 December 2023
At : Budapest, Hungary
ITINERARE Symposium
On 30 November 2023
At : Zurich, Switzerland
FDA Public meeting on Advancing the Development of Therapeutics Through Rare Disease Patient Community Engagement
On 14 December 2023
At : Online
RareX 2024
From 14 to 17 February 2024
At : Johannesburg, South Africa
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 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
Courses and Educational Initiatives
TREAT-NMD new e-learning course on congenital myopathies
A new course is available on TREAT-NMD's free e-learning platform. Titled "Pre-Clinical Insights into Congenital Myopathies," the course provides important insights into aspects of this rare neuromuscular disease such as diagnosis, animal models, and therapeutic development. The course is aimed at medical professionals involved in the diagnosis, care, and treatment of people living with neuromuscular diseases, and a certificate is available upon successful completion.
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.
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:
- 22/11 - ERN GENTURIS webinar: CTNNA1 germline variants: genotype-phenotype associations
- 23/11 - Endo-ERN webinar: Primary adrenal insufficiency - diagnosis, treatment and follow-up illustrated by cases
- 24/11 - ERN EYE GREET meeting on paediatrics
- 28/11 - ERN-ITHACA webinar: Incidental and secondary findings from exome/genome sequencing: The views of various European countries and ESHG
- 30/11 - ERN-RND & EuroNMD joint webinar: Myopathology in Protein Aggregate Myopathies and vacuolar myopathies
- 05/12 - ERN-RND & EuroNMD joint webinar: Diagnostic workup for genito-urinary dysfunctions in atypical parkinsonism
- 06/12 - ERN GENTURIS webinar: Hereditary Leiomyomatosis and Renal Cell Cancer, the clinical geneticist's perspective
- 08/12 - ERN EYE GREET meeting on retina
- 13/12 - Endo-ERN webinar on HNF1B disease
- 10/01 - Endo-ERN webinar on Gonadal dysfunction in males with CAH
- 18/01 - EuroNMD webinar on rhabdomyolysis
- 25/01 - ERN-RND & EuroNMD joint webinar on distal myopathies
VASCERN Summer School 2024
From 05 February to 28 September 2024
At : Paris, France and online
Applications are now open for the inaugural edition of the ERN VASCERN’s European Summer School. This program aims to train young doctors on the subject of rare vascular diseases, as well as to perpetuate and expand the network’s objectives to the new generation of healthcare professionals in Europe. It will be delivered in two modules: an online component, from 5th February to 17th May, 2024; and an in-person course, which will be held from 23rd-28th September, 2024 in Paris, France. Applications are open to medical students (undergraduate, masters or PhD level) and interns at European universities, and must be submitted before 19th November, 2023.
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 2023 live courses programme
Throughout the year, the Recordati Foundation is organising a series of courses to help advance knowledge in rare diseases. The programme contains the following sessions:
- Genetic therapies: 22-24 June in Heidelberg, Germany
- Non-adenomatous pituitary pathology: 26-28 October in Basel, Switzerland
- Early diagnosis and early treatment of inherited metabolic diseases: 23-25 November in Tokyo, Japan
For more information about the content of the courses and details about registration, please visit the Foundation's website.
RVA Project ECHO workshop: Innovative approaches to rare disease prevention and care
On 23 November 2023
At : Online
Rare Disease Project ECHO is a component of the RArEST project, seeking to strengthen clinical learning practice for rare diseases. Regular videoconferencing sessions connect community providers with a multidisciplinary team of experts, who are able to equip communities with timely, necessary knowledge.
The next session will take place on 23 November 2023, focused on Whole of Life Care. Visit the link below for more information on how to register and get involved.
ERN-EYE workshop on genomics and personalised medicine
From 07 to 08 December 2023
At : Strasbourg, France
The ERN-EYE will be holding their next workshop from 7-8 December 2023 in Strasbourg, France on "Rare eye diseases: challenges and dilemmas in the era of genomics and personalised medicine."
ERN-RND and EURO-NMD joint webinars 2023
The European Reference Network for Rare Neurological Diseases (ERN-RND) organises joint free educational webinars on rare neurological and movement disorders with EAN. These 1-hour webinars take place throughout the year and are presented by international experts. They discuss various aspects from more general clinical features, examination, disease diagnosis, medical interventions, and disease management to more specific ones as use of scales or imaging. Adult and paediatric neurology are both covered.
Further information about ERN-RND webinars in collaboration with EURO-NMD and the European Academy of Neurology (EAN) is available here.
EJP RD workshop: Managing RD biological sample data in Biobanks
From 13 to 14 December 2023
At : Milan, Italy
The EJP-RD is offering a training workshop from 13-14 December 2023 on how to manage rare disease biological sample data in biobanks. Aimed at biomedical researchers, medical professionals, and biobank managers who want to develop the capacity on data mangement of biobanks, the workshop will explore the high value of biological sample repositories for rare disease research. Registration is open to healthcare professionals, researchers, clinicians, biobank managers, database managers, and patient advocates. Travel fellowships are available. Prospective participatns are asked to apply by 23rd October 2023.
XVI Foresight Training Course on drug repurposing in Europe and proposed changes to the pharmaceutical legislation
On 18 December 2023
At : Bari, Italy (hybrid)
The Fondazione Gianni Benzi, in collaboration with Università degli Studi di Bari Aldo Moro, is organising the XVI Foresight Training Course titled "Repurposing to cover unmet needs: The current scenario in Europe and the proposed changes to the pharmaceutical legislation." The course will take place on 18 December 2023 in Bari, Italy and online. It will explore the potential of drug repurposing for meeting unmet needs, including relevant regulatory aspects at the European level and the implications of the proposed changes to the EU pharmaceutical legislation. The course is free of charge for students, researchers, and representatives from patient associations and non-profit organisations. The deadline to register is 4 December 2023.
ERN RITA: Immune dysregulation workshop by the SJD Barcelona Children's Hospital
On 18 December 2023
At : Barcelona, Spain (hybrid)
On 18 December 2023, a hybrid workshop on immune dysregulation is being organised by members of the ERN RITA in collaboration with the University Hospital Sant Joan de Déu in Barcelona. Participation is free, and all interested parties are invited to attend.
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
IHI call 6 draft topics
The Innovative Health Initiative (IHI) has published draft texts of topics relevant to rare diseases for call 6, slated for inclusion in IHI's next call for proposals (expected early 2024). The relevant new topics are:
- Support healthcare system resilience through a focus on persistency in the treatment of chronic diseases
- Development of practical guidance and recommendations for using real world data/real world evidence in healthcare decision-making
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.
- Data Infrastructure Grant - Support for the creation or extension of national research data infrastructure to facilitate health and medical research in Australia. Submissions close on 8th December 2023.
- 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.
Medics for Rare Diseases Student Voice Prize 2023
The 2023 edition of Medics for Rare Diseases' Student Voice Prize is now open for applications. This international essay competition offers applicants the chance to have their work published in the Orphanet Journal of Rare Diseases, to present at M4RD's annual conference in London, and to receive cash prizes. It is open to all students of medicine, nursing, and biological sciences. The submission deadline is 15th November 2023 at 12pm GMT. More information on the submission and eligibility criteria is available here.
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.
Job Opportunities
Rare disease research database manager
Orphanet is looking to hire a Rare Disease Research Database Manager. 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.
Job opportunities at EURORDIS
EURORDIS is looking to fill multiple positions, including Office Manager & Team Assistant, Compliance & Budget Manager, and Corporate and Donor Relations Assistant,. More information is available here.
Media
Uncovering the role of primary care for rare diseases
A comprehensive story has been published by Pulse Practice, which delves deep into the role of primary care in the diagnosis and management of rare diseases. General practitioners are typically a patient's first point of contact with the healthcare system, and as such are critical for spotting early signs of a rare disease. By understanding when it is appropriate to investigate the possibility of a rare disease diagnosis, GPs can help shorten diagnostic delay and give their patients a chance at the best possible health outcomes. Additionally, GPs are an invaluable resource for providing patients and their families with educational resources, and orienting them towards existing support services.
Rare on Air: New podcast episodes from EURORDIS
The latest episode of ERNs on Air, EURORDIS' podcast dedicated to discussing topics related to the European Reference Networks, is out now. Tune in to hear members of ERN GuardHeart and PaedCAN ERN discuss the role of patient representatives in ERNs.
A new episode has also been released of EURORDIS' other podcast, Rare on Air. In "Gene therapies: Why are they important?", host Julien Poulain delves into the world of gene therapy development, and explores their potential for revolutionising the treatment of rare diseases.
Global Genes RARE Concierge
The organisation Global Genes has unveiled their RARE Concierge patient service. A free service for patients, caregivers, and healthcare providers, the RARE Concierge patient service guides are a team which can help individuals navigate the world of rare and undiagnosed diseases. Learn more here.
Harvard Medical School highlights Usher syndrome type 1F
Harvard Medical School has published a video and feature story on Usher syndrome type 1F. The video and story both combine patient, parent, and researcher voices to create a narrative which demonstrates the relationship between basic research and clinical care. Watch the video and read the story to learn about a family affected by Usher 1F, and their work to help discover a cure.
Journal of Neuromuscular Diseases launces new podcast
The Journal of Neuromuscular Diseases has launched a new podcast which provides a deeper look at some of the journal's publications, featuring insightful conversations with authors and investigators. The first episode, "Safety and Challenges of Gene Therapy with Carsten Bonneman," discusses a range of topics associated with gene transfer therapy for neuromuscular diseases.