RDCA-DAP Webinar: "Teaching patients and caregivers: The role of education in research and data sharing"
On 11 August 2023
At : Online
Events
2023 CTX International Scientific Meeting
From 28 to 29 August 2023
At : Jerusalem, Israel
Endo-ERN webinar: Klinefelter syndrome - from genomics to the clinic
On 01 September 2023
At : Online
2023 HAEi Regional Conference EMEA
From 02 to 04 September 2023
At : Munich, Germany
The Rare Fair 2023
From 08 to 10 September 2023
At : Research Triangle Park, North Carolina, USA (hybrid)
ERN meeting: Lifelong posterior hypospadias
From 09 to 10 September 2023
At : Utrecht, Netherlands
C-Path Rare and Orphan Disease Conference
From 12 to 14 September 2023
At : Washington DC, USA
Registration is now open for the 2023 Rare and Orphan Disease Conference presented by the Critical Path Institute. At this 2.5 day conference, patients, providers, researchers, clinicians, industry representatives, regulators, and scientists will learn about different aspects of drug development for rare diseases and the current activities of C-Path's different rare disease programs.
The conference will take place from 11-13 September 2023 in Washington, DC, USA. Learn more and register at the link below!
NORD National Policy & Advocacy Taskforce Meeting
On 13 September 2023
At : Online
ERN-RND webinar: Friedreich Ataxia
On 13 September 2023
At : Online
ERN-EYE GREET meeting on paediatrics
On 16 September 2023
At : Online
Global Genes Week in RARE
From 19 to 22 September 2023
At : San Diego, USA
Global Alliance for Genomics & Health 11th Plenary
From 20 to 23 September 2023
At : San Francisco, USA (hybrid)
Conference on rare diseases and the European reference networks: How to ensure European solidarity for patients?
From 11 to 12 October 2023
At : Bilbao, Spain
ERN-EYE GREET meeting on retina
On 14 October 2023
At : Online
NORD Rare Diseases + Orphan Products Breakthrough Summit
From 16 to 18 October 2023
At : Washington DC, USA
Endo-ERN webinar: Non-classic CAH - an underdiagnosed condition
On 20 October 2023
At : Online
International Symposium on Triglyceride/Neutral Lipid and Rare Diseases
From 22 to 23 October 2023
At : Kyoto, Japan
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
Endo-ERN webinar: Primary adrenal insufficiency - diagnosis, treatment and follow-up illustrated by cases
On 24 November 2023
At : Online
ERN-EYE GREET meeting on paediatrics
On 25 November 2023
At : Online
ERN-EYE GREET meeting on retina
On 09 December 2023
At : Online
12th European Conference on Rare Diseases & Orphan Products
From 16 to 17 May 2024
At : Brussels, Belgium (hybrid)
2nd World Congress on Rare Skin Diseases
From 13 to 15 June 2024
At : Paris, France
Courses and Educational Initiatives
VASCERN: New EU Trainings webpage
The ERN VASCERN has added a new page to their website, titled "EU Trainings." This page is designed to centralise and facilitate access to different training opportunities and resources across the EU, in order to better empower healthcare professionals, researchers, and patient advocates within the network.
GenQA new specialist genomic online individual education platform
Genomics Quality Assessment (GenQA) is introducing a new specialist genomoic education and assessment tool for laboratory professionals. Called GENie, the platform builds on GenQA's established history of education to offer a comprehensive set of training modules for individual competency support. A free trial version for classification of SNVs and CNVs is currently available until 31 July 2023.
M4RD new online course: Mental Health and Rare Disease
Medics 4 Rare Diseases has a new e-learning course available about the importance of mental health in rare disease care. Conceived as a complement to the existing "Rare Disease 101" course, the new training consists of 8 interactive lessons, each of which focuses on a different topic related to the mental health challenges associated with living with a rare disease.
RVA new e-learning course: Applying mental health first aid in a rare disease context
A new course is now available on Rare Voices Australia's e-learning platform on Applying Mental Health First Aid in a Rare Disease Context. The course has been developed as a complement to the Rare Disease Awareness, Education, Support, and Training (RArEST) Project, in the framework of a partnership between RVA and Mental Health First Aid Australia. It focuses on the intersection between mental health and rare diseases, including the application of mental health first aid in the rare disease community and self-care and support for people working in rare disease organisations. The training is freely available to all interested stakeholders.
TREAT-NMD new e-learning courses available
The TREAT-NMD network is happy to announce the launch of two new, free e-learning courses available on their e-learning platform.
The first course, Communication with Parents, contains video and quiz content on how to communicate a diagnosis to parents of patients with Duchenen Muscular Dystrophy,, as well as content for informing children and strategies for dealing with distress.
The second training, a recording of the LGMD USA March 2023 Masterclass, includes 21 videos of expert speakers in LGMD presenting a variety of topics from the masterclass which took place last spring. This includes recordings of talks such as Differential Diagnosis by Edmar Zanoteli; Genetic Testing by Peter Kang; and Clinical Trials and Emerging Therapies by Nick Johnson.
EJP RD ERN Workshop: Urogenital tissue engineering from bedside to bench and back
From 05 to 06 September 2023
At : Utrecht, Netherlands
In the framework of their ERN workshops, the EJP RD will be holding a workshop on "Urogenital tissue engineering from bedside to bench and back: What do clinicians need and what has basic science to offer." The workshop will be held from 4-5 September 2023 in Utrecht, The Netherlands, and is aimed primarily at ERN eUROGEN members. However, if spots are available, interested patients and scientists from outside the network are invited to attend. Registration is open until 15 July, 2023.
ERN EURO-NMD Neuropathies rehabilitation summer school
From 19 to 22 September 2023
At : Rome, Italy
The ERN EURO-NMD is organising a Summer School on neuropathies rehabilitation from 18-21 September, 2023 in Rome, Italy. The aim of the workshop is to educate clinicians, researchers, physiotherapists and patient advocacy groups working in rehabilitation and the NMD field on current and future modalities of rehabilitation in rare and complex peripheral neuropathies.
RVA Rare Disease Project ECHO workshop: Rare disease patient communication and empowerment
On 25 August 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 24 August 2023, focused on patient communication and empowerment. Visit the link below for more information on how to register and get involved.
EJP RD International summer school on rare disease registries and FAIRification of data
From 26 to 30 September 2023
At : Rome, Italy
From 25-29 September in Rome, Italy, the Istituto Superiore di Sanità and partners are organising a training course on rare disease registries and FAIRification of data, within the context of the EJP RD. The Summer School consists of two modules, which can be registered for separately: "Rare Disease Registries," from 25-27 September, and "FAIRification of data," from 28-29 September. Three fellowships are available for participants living in an EU-13 Country or in Turkey, with an additional three available for patient representatives. Applications must be submitted by 22 May, 2023.
RVA Rare Disease Project ECHO workshop: Supporting the whole family of people living with a rare disease
On 29 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 30 September to 01 October 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 13 to 14 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 14 to 15 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 19 to 21 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.
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.
RVA Rare Disease Project ECHO workshop: Coordinating and connecting care for people living with a rare disease
On 27 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 24 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 08 to 09 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."
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
IHI upcoming opportunities
The Innovative Health Initiative has published a list of topics under consideration for inclusion in the next IHI call for proposals, to be launched in summer 2023. This is to give potential applicants additional time to start building a consortium and drafting a proposal before the official launch of the call. In particular, this includes the IHI call 4 (two-stage) topic: Establishing novel approaches to improve clinical trials for rare and ultra-rare diseases.
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.
Jerome Lejeune Foundation autumn call for projects
The Jerome Lejeune Foundation has opened their twice-yearly call for fundamental, translational and clinical research projects that will strengthen the understanding, deepen the knowledge and/or will explore new therapeutic approaches for Down syndrome. Funding is awarded over two years in the framework of either a pilot/exploratory grant (max €50,000) or an advanced grant (max €80,000). Principal investigators of any nationality holding a long-term appointment within an academic institution are invited to apply before 13 August, 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.
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.
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
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.
Finance Manager, Rare Diseases International
Rare Diseases International is looking for a Finance Manager to join their team and help support their mission of improving the lives of persons living with a rare disease and their families around the world. Candidates are asked to email a cover letter and detailed resume in English with 2-3 references to recruitment@rarediseasesint.org.
Media
New book chapter on rare disease ethics by Orphanet Spain coordinator!
The recently published Handbook of Bioethical Decisions Volume I contains a chapter on ethics in rare diseases, written by Dr Carmen Ayuso and Dr Francesc Palau, coordinator of Orphanet Spain. Throughout the chapter, they discuss four aspects of ethics as they relate to the process of translating research into clinical practice.
First is a discussion of the ethical implications of reusing patient data for research that goes beyond the purpose for which they were originally collected. RD patients are often vulnerable and easily identifiable, and special consideration is therefore needed to protect their privacy; however, data reuse is a key aspect of RD research, and a balance must be found that allows research to progress.
Next, the authors present ethically relevant aspects of rare disease research as they relate to diagnosis, treatment, and prevention of RD. This involves a discussion of the dilemmas facing clinicians when treating patients who are undiagnosed or who have experienced diagnostic error. This is followed by an exploration of the development of RD therapeutics, and how this research can be ethically translated into clinical practice.
To conclude, the authors provide a more detailed overview of the ethics of RD prevention, with particular attention paid to the incorporation of genomic analysis into newborn screening and the use of variant analysis as a biomarker. They discuss the importance of considering factors such as informed consent, making genetic counselling available, and ensuring children have access to their own data as they grow older.