On 16 February 2023
At : London, UK (hybrid)
Medics4RareDiseases and Medical Genetics are organising a multi-stakeholder meeting to provide education on rare diseases for physicians with little experience in the field. The event will take place from 12:45pm-5:00pm, and will follow a hybrid format.
On 22 February 2023
At : Online
The Global Alliance for Genomics and Health (GA4GH) develops standards and policies to enable the responsible sharing of genomic and related health data. For those interested in learning more about GA4GH, what they do, how it can help you, and how to get involved are invited to join their upcoming "GA4GH 101" webinar on 21 February at 8:00 EST / 13:00 UTC.
On 23 February 2023
At : Online
Patient Voice Initiative is hosting a webinar on strategies for better incorporating the views of patients into determining the value of treatments for rare and paediatric disorders. Speakers will include:
The event will take place from 7-8pm AEST (9-10am CET).
From 26 to 27 February 2023
At : Dubai, UAE (hybrid)
From 07 to 09 March 2023
At : London, United Kingdom
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.
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.
From 16 to 19 March 2023
At : Berlin, Germany
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
From 29 to 30 March 2023
At : Ottawa, Canada (hybrid)
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.
From 21 to 22 April 2023
At : Amsterdam
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.
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.
From 27 to 29 April 2023
At : Marseille, France
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
From 04 to 06 May 2023
At : Tutzing, Germany
On 07 May 2023
At : Washington DC, USA (hybrid)
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
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.
From 25 to 28 May 2023
At : Ljubljana, Slovenia
From 02 to 06 November 2023
At : Washington DC, USA
A number of educational and capacity-building resources are available from Genomic Quality Assessment (GenQA) on topics related to various aspects of genomic diagnostics. This includes their FOCUS ON webinar series, which in the past has covered topics such as SNV classification, non-invasive prenatal testing, and reporting guidance. The next webinar will be held on 2 March, and is titled “FOCUS ON Preimplantation Genetic Testing: Learnings from 12 years of PGT-M.” Recordings of all past webinars are available on YouTube.
In addition to the webinar series, GenQA also has the capacity to provide individualised educative support to laboratories participating in external quality assessments. To learn more about these and other services, click here.
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:
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.
A new e-learning course is available on Rare Voices Australia’s RVA Education platform, titled “Genomics and Newborn Bloodspot Screening Research.” Informed by the priorities outlined in Australia’s National Strategic Action Plan for Rare Diseases, the course presents a number of research programmes used to collect evidence on the use of new technologies in NBS programmes. The course is aimed at those interested in different types of approaches to implementing genomics in NBS, those seeking a deeper understanding of the ethical, legal, and social issues associated with genomics, and members of the rare disease community with an interest in the subject matter.
Rare Voices Australia is offering representatives from their partner organisations the opportunity to participate in specialised mental health first aid trainings. This is done in the context of RVA’s mental health and wellbeing activities, based on recommendations presented in Australia’s National Strategic Action Plan for Rare Diseases. One course will be dedicated to Youth, and the other to Aboriginal and Torres Strait Islander mental health.
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.
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.
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
The EJP-RD is accepting submissions for their 2023 Joint Transnational Call for research projects on the topic of “natural history studies addressing unmet needs in rare diseases.” Funding is provided by a number of national and regional organisations, and will only be given to multilateral teams representing at least 4 different countries. The maximum amount of funding available varies based on the individual funding organisation.
The call has a two-stage submission procedure, with pre-proposal submissions due by 15 February 2023.
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.
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.
The latest episode of Rare on Air, EURORDIS's podcast dedicated to rare diseases, is out now. Listen to hear advocates Rebecca Tvedt-Skarberg and Adéla Odrihocká, along with policy lead Raquel Castro, discuss the importance of breaking down barriers for people living with a rare disease and disability.
New animated videos on genetic testing for rare and undiagnosed diseases in both English and Spanish have been added to NORD’s rare disease video library. Watch the English video here.
