ERICA WP4 webinar: Definition of orphan drug by the EMA
On 29 March 2023
At : Online
Events
CORD Rare Disease Day conference: Delivering on Canada's rare disease investment
From 29 to 30 March 2023
At : Ottawa, Canada (hybrid)
RDAF multi-stakeholder webinar: "Early diagnosis for rare diseases"
On 30 March 2023
At : Online
On 29 March, the Rare Disease Action Forum is hosting a webinar on challenges and potential solutions associated with the diagnosis of rare diseases in Switzerland. It is open to all stakeholders active in the rare disease field, and will be co-moderaated by Peter Löffelhardt (HOPOS) and Nathalie Schober-Ladani (RDAF Secretariat). Registration is free, and open now.
Endo-ERN webinar: Genetic diagnosis of azoospermia: From chromosomes to whole exome analysis
On 31 March 2023
At : Online
EJP-RD Training on strategies to foster solutions of undiagnosed rare disease cases
From 04 to 06 April 2023
At : Rome, Italy
The EJP-RD is holding a 3-day course entitled “Training on strategies to foster solutions of undiagnosed rare disease cases.” Through a series of expert presentations, interactive Q&A sessions, and hands-on exercises, members of the international research community and clinicians will have the opportunity to gain the instruments they need to continue working in the field of undiagnosed rare conditions.
The Istituto Superiore di Sanità is organising the course, in collaboration with a number of EJP-RD task partners.
The course will take place from 3-5 April 2023 in Rome, Italy. Registration is open now until 15 February, and selected participants will be notified by 3 March. Priority will be given to participants involved in ERNs, Undiagnosed Diseases Network International, and SOLVE-RD.
TransplantChild webinar on vaccination after paediatric kidney transplantation
On 12 April 2023
At : Online
Rare Genetic Neurodevelopmental Disorders: EuroNDD 2023
From 21 to 22 April 2023
At : Amsterdam
ERN ReCONNET First International Congress on rare and low-prevalence connective tissue and musculoskeletal diseases
From 21 to 23 April 2023
At : Brussels, Belgium
Wellcome Connecting Science: Conference on Genomics of Rare Disease
From 25 to 27 April 2023
At : Hinxton, UK (hybrid)
From 24-26 April, Wellcome Connecting Science will be hosting their 17th conference on rare diseases, providing a multi-disciplinary forum for various stakeholders to discuss the latest findings and therapeutic approaches in genetic mechanisms of rare diseases. The event will follow a hybrid format, with the possibility for either onsite or virtual attendance. The registration deadline is 28 March for in person, and 17 April for virtual participants.
Registration bursaries are also available on a limited basis, covering up to 50% of the registration fee. Applications must be submitted by 28 February.
Solve-RD Final Meeting 2023 and public symposium
From 25 to 27 April 2023
At : Prague, Czech Republic (hybrid)
The Solve-RD Final Meeting 2023 will be held from 24-26 April. The scientific meetings on 24 and 25 April are open to Solve-RD partners and rare disease researchers, while the symposium on 26 April is open to the general public. In person registration is open until 27 March, and virtual registration will close on 23 April.
World MEN: 18th International Workshop on Multiple Endocrine Neoplasia and other Rare Endocrine Tumors
From 27 to 29 April 2023
At : Marseille, France
ERN GENTURIS webinar: Mainstreaming genetic testing - method or madness?
On 27 April 2023
At : Online
EJP RD - ERN Workshop: Psychological, molecular and administrative aspects of Hereditary breast and ovarian cancer genetic population screening (HBOC GPS)
From 28 to 29 April 2023
At : Riga, Latvia
In the context of EJP RD’s ERN Workshops, a workshop entitled “Psychological, molecular and administrative aspects of Hereditary breast and ovarian cancer genetic population screening (HBOC GPS)” is being organized by Rīga Stradiņš University.
The in-person event, which aims to educate researchers and clinicians on psychological, molecular and administration aspects of HBOC GPS, will take place on 27-28 April 2023 in Riga, Latvia.
Registration is open here, and closes on February 22nd.
This workshop is addressed to clinical geneticists, laboratory geneticists, breast surgeons, gynecologists, oncopsychologists, public health specialists, medical oncologists, radiologists, radiotherapists, pathologists – employees or affiliated to an ERN-Full Member or affiliated Partner institution.
More information here
RARE Drug Development Symposium
From 02 to 04 May 2023
At : Philadelphia, USA
FDA and JHU Workshop: Addressing challenges in the design and analysis of rare disease clinical trials: Considerations and tools
From 03 to 04 May 2023
At : Online
The Translational Science of Rare Diseases - From Rare to Care IV
From 04 to 06 May 2023
At : Tutzing, Germany
Grand Rounds ERN-EYE Transnational (GREET) Meeting on Retina
On 27 May 2023
At : Online
Living Rare, Living Stronger: NORD patient and family forum
On 07 May 2023
At : Washington DC, USA (hybrid)
CDC Webinar: We Screen Newborns Don't We? Progress in DNA-based Population Screening
On 19 May 2023
At : Online
ICI23: International Conference on Integrated Care
From 23 to 25 May 2023
At : Antwerp, Belgium
EJP RD - ERN Workshop: Desmoid tumors (DTs) in patients with Familial Adenomatous Polyposis (FAP): an interdisciplinary approach
From 23 to 24 May 2023
At : Milano, Italy
In the context of EJP RD’s ERN Workshops, a workshop entitled “EJP RD – ERN Workshop: Desmoid tumors (DTs) in patients with Familial Adenomatous Polyposis (FAP): an interdisciplinary approach” is being organized by Dr Marco Vitelarro.
The in-person event will take place on 22-23 May 2023 at Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, in Milano, Italy.
Registration is open here, and closes on March 7th.
This workshop is addressed to physicians, researchers from ERN Full Members or Affiliated Partners from the junior to senior level.
More information here
World Orphan Drug Congress USA 2023
From 24 to 26 May 2023
At : Washington DC, USA (hybrid)
The World Orphan Drug Congress, USA will be taking place from 23-25 May in a hybrid format. For those interested in attending, Rare Diseases International has a number of fellowships available to help cover registration, travel, and accommodation expenses. Applications are assessed on a rolling basis and must be submitted before 1 March.
35th annual meeting: European Academy of Childhood Disability
From 25 to 28 May 2023
At : Ljubljana, Slovenia
EURORDIS Membership Meeting 2023
From 26 to 28 May 2023
At : Stockholm, Sweden
EURORDIS will be hosting their 2023 Membership Meeting (EMM) from Thursday 25 May to Saturday 27 May in Stockholm, Sweden. The event, which is open to non-members, provides an opportunity for engaging discussions on holistic approaches to addressing the needs of people living with a rare disease and ensuring their full inclusion in society. The programme for this year's EMM focuses on current issues facing the rare disease community such as the role of digital healthcare, and will feature workshops, moderated networking sessions, and more.
Registration for the 2023 EMM is now open!
Grand Rounds ERN-EYE Transnational (GREET) Meeting on Paediatrics
On 27 May 2023
At : Online
European Society of Human Genetics 2023 Conference
From 11 to 14 June 2023
At : Glasgow, Scotland, UK (hybrid)
EUROMIT2023: 11th European Meeting on Mitochondrial Pathology
From 12 to 16 June 2023
At : Bologna, Italy
ERICA 3rd General Assembly
From 07 to 08 July 2023
At : Madrid, Spain
2023 CTX International Scientific Meeting
From 28 to 29 August 2023
At : Jerusalem, Israel
NORD Rare Diseases + Orphan Products Breakthrough Summit
From 16 to 18 October 2023
At : Washington DC, USA
American Society of Human Genetics 2023 Annual Meeting
From 02 to 06 November 2023
At : Washington DC, USA
6th International Primary Immunodeficiencies Congress (IPIC2023)
From 09 to 11 November 2023
At : Rotterdam, Netherlands
Courses and Educational Initiatives
International neurovascular training course on sickle cell disease
From 31 March to 01 April 2023
At : Padua, Italy
The International neurovascular training course on sickle cell disease is being organised by members of the ERN EuroBloodNet. The in-person event will include presentations, workshops, and case-based discussions; including a session titled "ERN-Eurobloodnet Clinical case discussions."
EJPRD free and online MOOC on Diagnosing Rare Diseases: New Facilitation Window
The French Foundation for Rare Diseases is delighted to announce the upcoming opening of a new facilitation window of the MOOC "Diagnosing Rare Diseases: from the Clinic to Research and back". Mentors, experts in the field, will be available online to respond to you as you progress through the MOOC.
In the context of European Joint Programme on Rare Diseases (EJP RD), the French Foundation For Rare Diseases, ERN Ithaca and ERN Genturis have co-developed this MOOC.
The goal of the course is to learn about rare genetic disease diagnosis and testing, to understand the impact of technology in diagnostic research and to gain insights into patients’ experiences of rare genetic disease.
This course is designed for individuals with a keen interest in diagnostic research and rare diseases. While primarily designed for medical students and PhD/post-doc students in biomedical sciences, it will also be of interest to Patients Advocacy Organisations’ representatives, Healthcare professionals or paramedics who want to further their knowledge of rare diseases diagnosis.
Rare Disease Project ECHO community of clinical learning practice: Next session
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 Wednesday 19 April, focused on Whole of Life Care. Visit the link below for more information on how to register and get involved.
ERN RARE-Liver EASL academy
From 28 to 29 April 2023
At : Barcelona, Spain
The ERN RARE-LIVER will be holding their inaugural EASL Academy from 27-28 April in Barcelona. The aim of the programme is to provide education and training for junior clinicians on rare liver diseases through a series of lectures, discussions, and networking opportunities.
20th annual Spring School of Primary Immunodeficiencies
From 12 to 14 May 2023
At : Prague, Czech Republic
This May, Charles University Hospital and Motol University Hospital will once again be co-hosting their annual Spring School of Primary Immunodeficiencies. The three-day programme includes case presentations, topic overviews, and speakers covering all aspects of the field from pathogenesis to diagnosis to treatment. There will also be an array of opportunities for socialising, networking, and cultural experiences.
The School is primarily aimed at young participants interested in the many different aspects of inborn errors of immunity. There is no registration fee, and all expenses are included except for travel costs to and from Prague. Registration will close on 31 March 2023.
TREAT-NMD Expert Masterclass Week
From 23 to 27 May 2023
At : Amsterdam, Netherlands
From 22-26 May 2023, the TREAT-NMD neuromuscular network will be holding a series of in-person masterclasses exploring diagnosis, patient and parent perspectives, standards of care and emerging therapies for different neuromuscular diseases. Three masterclasses will be held in total, on the topics of Duchenne Muscular Dystrophy, Gene Therapy, and Spinal Muscular Atrophy. The classes will each be 1.5 days long and are aimed at clinicians and other healthcare professionals and researchers working in the field of neuromuscular diseases.
INTINERARE 9th Rare Disease Summer School
From 05 to 08 July 2023
At : Zurich, Switzerland
From 4-7 July 2023, the University of Zurich's ITINERARE program will be organising their 9th Rare Disease Summer School on the topic of "Innovative Therapies in Rare Diseases."
Participants will attend expert lectures, workshops, poster viewing sessions, and oral presentations, all with the goal of providing a comprehensive overview of the different aspects of rare disease care and research. The School is primarily aimed at clinicians, physician-scientists, postdocs, and PhD students. Travel grants are also available for some eligible participants.
EURO-NMD 5th Neuromuscular Translational Summer School
From 11 to 15 July 2023
At : Leiden, Netherlands
In collaboration with TREAT-NMD, EURO-NMD will be hosting their 5th annual neuromuscular translational summer school from 10-14 July 2023 in Leiden, Netherlands. The Summer School will present lectures about the management of neuromuscular diseases, drug development, and patient communication and engagement.
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 Leadership and Communication Skills Training for patient representatives and advocates
From 27 to 28 October 2023
At : Gdańsk, Poland
As part of the training activities proposed by the EJP RD, a course aimed at patient representatives titled "Training for patient representatives and advocates on leadership and communication skills" will be offered from 26-27 October 2023. Organised by Medical University of Gdańsk in collaboration with EURORDIS, the 2-day training and preparatory activities aims to teach participants presentation, negotiation and leadership skills through a range of activities.
The training will be free of charge for selected participants. There are also 21 fellowships available to help cover travel expenses up to 435€. The EJP RD is committed to ensuring that the training is accessible to patient representatives and advocates from all backgrounds, with those from Eastern Europe particularly encouraged to apply.
Applications for the training as well as the travel fellowship must be submitted before 26 April 2023.
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.
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.
Grants
AFM-Téléthon international call for proposals now open
AFM-Téléthon has opened their 2023 international calls for proposals. There are opportunities for both scientific and medical research projects on a range of topics related to neuromuscular diseases. Several different types of funding are available.
The deadline for grants and postdoctoral fellowships has now passed, but applications for PhD Fellowships will be accepted until 28 March 2023.
FDA funding opportunity for rare neurodegenerative diseases
In the framework of the FDA Rare Neurodegenerative Disease Grant Program, the US Food and Drug Administration (FDA) has announced a new funding opportunity for efficient natural history studies and/or biomarker studies that fill unmet needs for rare neurodegenerative diseases for children and adults. The opportunity is titled "Natural history and biomarker studies of rare neurodegenerative diseases (U01) clinical trials optional" and aims to address critical knowledge gaps, remove major barriers to progress, and facilitate rare disease product development.
Letters of intent are due 4 April 2023, and the full application deadline is 4 May 2023.
Global Genes Health Equity in RARE Impact Grant
Applications are now open for Global Genes's 2023 Health Equity in RARE Impact Grant. The program is an annual opportunity for patient advocacy organisations to strengthen their outreach, education, and awareness efforts to better address the challenges faced by underrepresented members of the rare disease community. Applicants must be a member of Global Genes's Global Advocacy Alliance network. The deadline to submit an application for this year's grant is 7 April, 2023.
EveryLife Foundation #RAREis Scholarship
The EveryLife Foundation has opened applications for their 2023 #RAREis Scholarship. This is a one-time award of $5000 USD meant to support adults living with a rare disease in their educational pursuits. To be eligible, applicants must be United States residents over the age of 17 who are planning to enroll in undergraduate or graduate study at an accreddited two- or four-year college, university, or vocational-technical/trade school for the Fall 2023 semester. The closing date for applications is 13 April 2023.
GA4GH 2023 call for driver projects open
Does your initiative aim to embed genomics in healthcare, set genomic data sharing policies, expand data access, or achieve other goals related to responsible use of human genomic data? Apply to become a GA4GH Driver Project! Driver Projects shape the development of GA4GH standards, tools, and frameworks and help drive forward our mission: to expand responsible genomic data use that benefits human health. See eligibility criteria and apply to become a GA4GH Driver Project by 30 April 2023.
AFM-Téléthon international thematic call for projects 2023
AFM-Téléthon has launched their first international call for proposals for Translational Research Projects on the theme "A single therapeutic product for multiple mitochondrial disorders." The call is open to any project on primary mitochondrial diseases that will develop a therapeutic approach which targets several mitochondrial diseases. Collaborative projects are encouraged.
Selected projects can be awarded a maximum of €200,000 per year, for up to two years. Funding will be available for salaries, consumables, subcontracting, and may be available for equipment. Applications must be submitted by 3rd May 2023, with awards to be announced in December 2023.
Horizon Europe Health Calls 2023
The European Commission's Horizon Europe Health Calls 2023 are now open, with several funding calls specific to rare diseases:
The call “European Partnership on Rare Diseases” is part of Destination 3 “Tackling diseases and reducing disease burden.” It is a single-stage call, and the deadline is 19 September 2023 at 17:00 CEST.
The topic “Modelling and simulation to address regulatory needs in the development of orphan and paediatric medicines” is part of Destination 6 “Maintaining an innovative, sustainable and globally competitive health industry.” It is a single-stage call, and proposals must be submitted before 13 April 2023 at 17:00 CEST.
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.
Job Opportunities
Media
Elsevier announces new "Year of the Zebra" inititative
The academic publisher Elsevier has announced a new initiative to address the needs of the world’s rare disease community, entitled “Year of the Zebra.” The initiative will be led by their education platform, Osmosis, and has several components. These include the new online platform Rare Disease Healthcare Hub; the launch of open access journal Rare. Open Research in Rare Diseases; and a series of educational videos. Each week, a different rare disease will be highlighted through an educational video featured on Osmosis’s online platforms and YouTube channel. The aim of these combined efforts is to educate the healthcare community, and drive greater support for the hundred of millions around the world diagnosed with rare diseases.
Elsevier is joined in this initiative by a number of partner organisations, including patient advocacy groups, academic institutions, and YouTube Health.