NORD Rare Diseases + Orphan Products Breakthrough Summit
From 15 to 17 October 2023
At : Washington DC, USA
Events
International Symposium on Triglyceride/Neutral Lipid and Rare Diseases
From 21 to 22 October 2023
At : Kyoto, Japan
American Society of Human Genetics 2023 Annual Meeting
From 01 to 05 November 2023
At : Washington DC, USA
Paris Conference for an International Childhood Cancer Data Partnership
From 07 to 08 November 2023
At : Paris, France
6th International Primary Immunodeficiencies Congress (IPIC2023)
From 08 to 10 November 2023
At : Rotterdam, Netherlands
ERICA & EJP RD Joint Conference
From 20 to 21 November 2023
At : Amsterdam, Netherlands
RareX 2024
From 14 to 17 February 2024
At : Johannesburg, South Africa
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)
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
EJP RD: MOOC From Lab to Clinic: Translational Research for Rare Diseases
The French Foundation for Rare Diseases has announced the opening of a new facilitation window of the MOOC From Lab to Clinic: Translational Research for Rare Diseases on October 9th. This update will be available until December 2nd 2023.
In this course, you'll get to learn from experts about how medicines are developed, tested in clinical trials, approved by regulators, and the unique challenges of working with rare diseases. You'll also hear from both patients and experts in the field, which will give you valuable perspectives. You'll learn about how clinical trials are planned, designed, and how data is shared. By the end of the course, you'll have a good understanding of how we gather evidence to make sure treatments for rare diseases are safe and effective.
NORD CME courses on rare cancers
The National Organization for Rare Disorders has a number of accredited continuing medical education courses on rare cancers available online. These courses are intended for healthcare providers currently practicing in the United States, and feature top medical specialists, NORD member advocacy organisations, rare disease patients, and Centres of Excellence. The courses are provided in partnership with Platform Q Health, and are available for CME credit for one year following their publication.
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:
- 16/10 - ERN EYE webinar: Paediatric cataracts
- 17/10 - ERN RND & EuroNMD joint webinar: Neuro-ophthalmological presentations of rare neurometabolic diseases
- 19/10 - Endo-ERN webinar: Non-classic CAH - an underdiagnosed condition
- 19/10 - EuroNMD webinar: Gene therapy
- 24/10 - ERN-RND & EuroNMD joint webinar: Newborn screening in leukodystrophies*
- 25/10 - GENTURIS webinar: Peutz-Jeghers syndrome - the clinical genetic perspective
- 08/11 - GenoMed4All & EuroBloodNet webinar: Data integration and analysis (Artificial Intelligence)
- 14/11 - ERN6RND & EuroNMD joint webinar: Diagnostic workup and prognostic implication for sleep disorders in atypical parkinsonisms
- 15/11 - EuroBloodNet Topic On webinar: Blood smears combined with immunofluorescence facilitate diagnosis in patients suspected for inherited platelet disorders
- 23/11 - Endo-ERN webinar: Primary adrenal insufficiency - diagnosis, treatment and follow-up illustrated by cases
- 24/11 - ERN EYE GREET meeting on paediatrics
- 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
- 08/12 - ERN EYE GREET meeting on retina
- 13/12 - Endo-ERN webinar on HNF1B disease
- 18/01 - EuroNMD webinar on rhabdomyolysis
- 25/01 - ERN-RND & EuroNMD joint webinar on distal myopathies
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 Rare Disease Project ECHO workshop: Supporting the whole family of people living with a rare disease
On 28 September 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 28 September 2023, focused on supporting family members of people living with a rare disease. Visit the link below for more information on how to register and get involved.
ESMO Preceptorship on Hereditary Cancer Genetics 2023: Paris
From 29 to 30 September 2023
At : Paris, France
From 29-30 September 2023, the European Society for Medical Oncology (ESMO) will be hosting a course on the prevention, diagnosis, treatment, and management of hereditary cancers. It is aimed at oncologists residing in Europe, but is open to all ESMO members. For successful applicants, there is no cost to apply and accommodation will be provided. A travel grant of up to 400 EUR is also available to help cover travel costs. Applications for the course will close on 27 June 2023.
EJP RD ERN workshop: CDH1 related hereditary diffuse type gastric cancer
From 12 to 13 October 2023
At : Nijmegen, Netherlands
The EJP RD is organising a workshop on "CDH1 related hereditary diffuse type gastric cancer: The shift from prophylactic total gastrectomy to optimal endoscopic surveillance" as part of their series of ERN workshops. This workshop is open to the entire ERN community, as well as PhD students, researchers, and clinicians interested in the field of hereditary diffuse type gastric cancer. Registration is open until 15 July, 2023.
EJP RD ERN workshop: Advances in regenerative medicine and tissue engineering for rare musculo-skeletal diseases
From 13 to 14 October 2023
At : Rome, Italy
From 13-14 October 2023, the EJP RD will be organising an ERN workshop on "Advances in regenerative medicine and tissue engineering for rare musculo-skeletal diseases." The workshop aims to improve the knowledge and competences on up-to-date regenerative medicine and tissue engineering technologies exploited in the design of advanced therapies for rare diseases affecting skeletal muscles and bones, and is open to the entire ERN community.
EJP RD 5th International Training Course on "Quality assurance, variant interpretation, and data management in the NGS diagnostic era"
From 18 to 20 October 2023
At : Warsaw, Poland
The 5th International Training Course on "Quality assurance, variant interpretation and data management in the NGS diagnostic era" will be organised from 18-20 October 2023 in the framework of the EJP RD. The main goal of the course is to keep researchers and clinicians up to date on the latest techniques and practices related to next-generation sequencing (NGS) and variant interpretation. It is open to participants from the international research community, including clinicians, specialists, policy makers, and patient representatives (among others) with a basic knowledge in biology or medicine. The deadline to register is June 20th, 2023.
EURORDIS Open Academy Schools 2024
Registration is now open for the 2024 edition of EURORDIS' Open Academy Schools, taking place in June 2024 in Barcelona. Taking place over one week, the Open Academy School on Medicines Research & Development (formerly EURORDIS Summer School) and the Open Academy School on Scientific Innovation & Translational Research (formerly EURORDIS Winter School) will run in parallel, providing patient advocates and PhD researchers with the chance to gain rare disease-specific, comprehensive training programs. Participants of both schools will follow a program including off-site visits to research facilities/hospitals, contact time with faculty and EURORDIS staff, and plenty of networking opportunities.
Applications for both schools closes on 27 October 2023. For more information on the specific application criteria and procedure for each school, visit the EURORDIS Open Academy website.
RVA Rare Disease Project ECHO workshop: Coordinating and connecting care for people living with a rare disease
On 26 October 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 26 October 2023, focused on care coordination and connection. Visit the link below for more information on how to register and get involved.
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.
TREAT-NMD Expert BMD Masterclass 2023
From 07 to 08 December 2023
At : Barcelona, Spain
The TREAT-NMD network will be holding an expert masterclass on Becker muscular dystrophy from 7-8 December 2023 in Barcelona, Spain. This in-person event is aimed at healthcare professionals and researchers who are or will become involved in the diagnosis, care, and treatment of patients with BMD in Europe.
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.
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.
Grants
Multiple grant opportunities from NORD
The National Organization for Rare Disorders has announced the following new funding opportunities:
- Up to $35,000 for scientific and/or clinical research studies related to Arteriovenous Malformation (AVM). The submission deadline is 16 October 2023.
- Up to $40,000 for scientific and/or clinical research studies related to Levy-Yeboa syndrome (LYS). The submission deadline is 16 October 2023.
- $30,000 for scientific and/or clinical research studies related to megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS). The submission deadline is 16 October 2023.
More information about the specific calls is available on NORD's website.
2023 EU4Health calls for action grants
The Europan Health and Digital Executive Agency (HaDEA) has published 12 calls for proposals under the 2023 EU4Health Work Programme. The topics cover a range of different health-related subjects. In particular, topic PJ-11 is for a program on orphan medical devices, in particular targeting paediatric patients. The total budget for the calls is €19,960,000. The deadline for applications is on 17 October 2023, 17h00 CET.
EveryLife Foundation Rare Giving grants
Applications are now open for the EveryLife Foundation's 2024 Rare Giving grant. This program is intended to support organisations that engage patients, caregivers, and other members of the rare disease community in advocacy and public policy in order, in order to ensure policymakers and regulators hear their voices directly. Three types of funding are available for eligible 501(3)c non-profit organisations:
- Event sponsorships, to fund conferences, meetings, and Patient-Focused Drug Development meetings;
- Tools and resources grants, to support organisations in empowering patient communities to engage in policy (patient registries not eligible);
- Travel reimbursements, to enable US-based rare disease advocates to participate in Rare Disease Week on Capitol Hill and/or public meetings hosted by the FDA and NIH.
Applications for all Rare Giving 2024 grants must be submitted by 27th October 2023. Any questions can be directed to klaws@everylifefoundation.org.
IQSEC2 Research and Advocacy Foundation Research Grant Program 2023
The IQSEC2 Research and Advocacy Foundation is offering a 1-year grant to support research related to IQSEC2-related disorder. The Foundation will award either one grant of $60,000 or two grants of $30,000. All individuals holding a faculty-level position or a senior position at a non-profit institution or foundation are eligible to apply, including researchers with no prior experience with IQSEC2. Applications must be submitted by 4 November 2023.
Canadian Institutes of Health Research: Funding opportunities for rare disease projects
The Canadian Institutes of Health Research has announced several new funding opportunities for rare disease projects. The first team grant, "Improving Diagnosis for Rare Disease Patients," aims to support research which will determine the best pathway to diagnose RDs by moving genomic testing towards the front end of the care pathway. The maximum amount per grant is $458,333 per year for up to 3 years. The submission deadline is 7 November 2023.
The second opportunity, "Improving Health and Administrative Data and Monitoring for Rare Diseases," aims to support implementation research to determine the prevalence, direct cost, and burden of rare diseases in the Canadian health care systems. The maximum amount per grant is $400,000 per year over four years. The submission deadline is 7 November 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 topic "Establishing novel approaches to improve clinical trials for rare and ultra-rare diseases" is part of the Innovative Health Initiative JU Call 4. It is a two-stage call, with an initial submission deadline of 8 November 2023 at 17:00 CET.
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.
LaunchBio travel scholarships
LaunchBio is a nonprofit organisation in Silicon Valley which holds small conferences to connect rare disease biotech entrepreneurs and investors. Fondation Ipsen is offering three travel scholarships to European rare disease entrepreneurs who would like to attend a LaunchBio event to promote their company. The scholarship covers the cost of a flight, plus three nights of hotel accommodations. Interested applicants are invited to send the name of their company, the LaunchBio event they would like to attend, as well as 150-300 words explaining how they would benefit from a Fondation Ipsen Schloarship to Clea Stemitsiotis at clea.stemitsiotis@ipsen.com. The program is open until all scholarships have been used.
Job Opportunities
Scientific monitoring and content acquisition officer
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.
Document resource manager, Genes and rare disease nomenclature
Orphanet is looking to hire a Document Resource Manager, Genes and rare disease nomenclature. 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 Compliance & Budget Manager, Chief Executive Officer, Corporate and Donor Relations Assistant, and Communications Junior Manager, Projects & Programmes. More information is available here.
Media
New podcast episode on newborn screening
The latest episode of Rare on Air, EURORDIS's podcast dedicated to rare diseases, is out now. In this episode, host Julien Poulain dives into the world of newborn screening, speaking about the importance of early diagnosis for rare diseases and the findings from the latest Rare Barometer survey.
Video: Unpacking the new EU pharmaceutical package
In a new video as part of FTI Consulting's series "Game Changers in Health," Senior Orphan Drug Pharmacist Mark Dooms unpacks the new EU pharmaceutical legislation and discusses the change it represents in Europe's approach to rare diseases, the benefit it may bring to the rare disease community, and what still remains to be done.