Science Café: Understanding rare diseases using statistics and data science
On 02 March 2023
At : Online
Events
Medics 4 Rare Diseases educational event: Reframing rare disease
On 07 March 2023
At : Cambridge, UK
Third International Summit on Human Genome Editing
From 07 to 09 March 2023
At : London, United Kingdom
EURORDIS next ePAG introduction call
On 09 March 2023
At : Online
On 8 March, EURORDIS will be hosting a call for ePAG newcomers and patient advocates interested in or considering joining the ePAGs. The call will present a general introduction to the ERNs and ePAGs to inform participants about their role as an ePAG advocate. There will also be the opportunity to ask questions and network with other newcomers.
TREAT-NMD: virtual LGMD North American masterclass
From 10 to 11 March 2023
At : Online
As part of their series of free masterclasses, TREAT-NMD is hosting a virtual masterclass on the treatment and care of patients with LGMD aimed at healthcare professionals based in North America. The event will be held online from 9-10 March 2023, and will feature expert talks and interactive workshops. Places are limited, and registration is now open.
1st Latin American and Caribbean Rare Disease Congress
From 17 to 18 March 2023
At : Bogotá, Colombia
EJP RD Networking Symposium: Complex genetics of inherited arrhythmias
From 17 to 18 March 2023
At : Amsterdam, Netherlands
ESMO Sarcoma and Rare Cancers Congress 2023
From 21 to 23 March 2023
At : Lugano, Switzerland
RDLA March Legislative Webinar
On 24 March 2023
At : Online
Childhood Dementia Symposium 2023
On 15 March 2023
At : Sydney, Australia
On Tuesday 14 March, Childhood Dementia Initiative is holding the second edition of their Childhood Dementia Symposium. The event will bring stakeholders together to expand their knowledge about and discuss therapeutic options for children with dementia. Registration is open now.
2023 RE(ACT) Congress & IRDiRC Conference
From 16 to 19 March 2023
At : Berlin, Germany
EJP RD – ERN Workshop: New Therapeutical Approaches for Inherited Retinal Dystrophies
From 28 to 29 March 2023
At : Valencia, Spain
In the context of EJP RD’s ERN Workshops, a face-to-face workshop entitled “EJP RD – ERN Workshop: New Therapeutical Approaches for Inherited Retinal Dystrophies” is being organized by Dr Regina Rodrigo.
The in-person event will take place on 27-28 March 2023 at CIPF – Príncipe Felipe Research Center, Eduardo Primo Yúfera, 3, 46012, Valencia, Spain.
Registration is open here, and closes on December 31st.
The workshop, open for beginners and medium level researchers – junior physicians and scientists, will give an update on basic and translational research related to new therapeutic approaches for IRDs. It will bring together European experts and trainees to improve the training of young researchers on IRDs and latest therapies. Participants and speakers will involve representatives from ERN-EYE partners and non-ERN-EYE partners.
More information here
CORD Rare Disease Day conference: Delivering on Canada's rare disease investment
From 29 to 30 March 2023
At : Ottawa, Canada (hybrid)
TransplantChild webinar on vaccination after paediatric kidney transplantation
On 12 April 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.
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
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.
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.
World MEN: 18th International Workshop on Multiple Endocrine Neoplasia and other Rare Endocrine Tumors
From 27 to 29 April 2023
At : Marseille, France
ERN RARE-Liver EASL academy
From 28 to 29 April 2023
At : Barcelona, Spain
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
CDC Webinar: We Screen Newborns Don't We? Progress in DNA-based Population Screening
On 19 May 2023
At : Online
The Translational Science of Rare Diseases - From Rare to Care IV
From 04 to 06 May 2023
At : Tutzing, Germany
Living Rare, Living Stronger: NORD patient and family forum
On 07 May 2023
At : Washington DC, USA (hybrid)
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
European Society of Human Genetics 2023 Conference
From 11 to 14 June 2023
At : Glasgow, Scotland, UK (hybrid)
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
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
Beacon for Rare Diseases webinar series: Getting started with medicines repurposing
Beacon for Rare Diseases is organising a 3-part educational webinar series for leaders and members of rare disease patient groups exploring medical and scientific aspects of drug development and repurposing:
- Session 1: Introduction to Medicines Repurposing – 8 February 13:00-14:30
- Session 2: Pre Clinical Development for Medicines Repurposing – 22 February 13:00-14:30
- Session 3: Beyond Clinical Trials: Approaches to Market for Medicines Repurposing – 8 March 13:00-14:30
ERN-ITHACA webinar on newborn screening
On 22 March 2023
At : Online
On 21 March, ERN-ITHACA is offering a webinar titled “Innovation in Newborn Screening across Europe.” This webinar will discuss technical, clinical, and ethical aspects of pilot programs to extend NBS, as well as the role of NBS in accelerating rare disease diagnosis. Registration will close on 17 March.
ERN-RND 4th Winter School on neuroimaging
From 24 to 26 March 2023
At : Online
The 4th edition of ERN-RND's Winter School will be held virtually from 23-25 March 2023. This year's programme is focused on neuroimaging issues in patients with symptoms of a rare neurodegenerative or genetic disorder. When registering, participants will have the option to submit a case which can be discussed with experts during the School. The deadline for registration is 15 March 2023.
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.
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.
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 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
Innovative Health Initiative Call 3 Open
Innovative Health Initiative's Call 3 is now open, with a number of topics open including a call around advanced therapies for rare dieases.
More information on this single stage call is available on the IHI website, linked below. The maximum financial contribution from IHI JU for the published topics is €138 million
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.
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
New play and documentary about the rare disease experience
A new play, titled “RARE: Stories of Dis-ease” explores the often-ignored experiences of people living with rare diseases and their friends and family. The play was produced as a collaboration between rare disease patients, their families, students and faculty from the University of Minnesota, and a professional playwright. A recording of the play’s final performance is now available for viewing, along with a short documentary about the play’s creation.