European Aniridia Conference
From 01 to 02 August 2021
At : Online
Events
ESHG Online Conference
From 29 August to 01 September 2021
At : Online
The ESHG regrets to announce that due to severe technical issues with the virtual platform that were brought to our attention only this week, the ESHG Executive Board has been forced to postpone the conference to August 28-31, 2021.
Network of Experts on Alpha Mannosidosis & Rare Diseases
From 03 to 08 July 2021
At : Online
The event will gather participants from all over the world. Its aim is to create awareness on the complex spectrum of alpha-mannosidosis symptoms, favoring the early diagnosis and treatment.
Nursing, Genomics & Healthcare
From 08 to 10 July 2021
At : Online
22nd ISGEDR & ERN-EYE Joint Meeting
From 03 to 05 September 2021
At : Lausanne, Switzerland
The 22nd ISGEDR Meeting will be held hybrid (virtual and in person) from September 2nd to 4th 2021 in Lausanne, Switzerland, jointly with the European Retinoblastoma Group (EURbG), the Société de Génétique Ophtalmologique Francophone (SGOF), and ERN-EYE. The scientific program promises to be outstanding, covering the hotest topics in ocular genetics and retinoblastoma.
31st European Dysmorphology Online Workshop
From 23 to 26 September 2021
At : Online
EuroDysmopho Workshop aims to bring together young clinical geneticists and trained dysmorphologists to share their professional experiences and present their clinical challenges.
EuroDysmorpho is open to any presentation in the field of human development: large series of patients and single, illustrative case reports are equally welcome!
RVA's biennial National Rare Disease Summit
From 13 to 14 November 2021
At : Sydney-Australia
Rare 2021: Les rencontres des maladies rares
From 15 to 16 October 2021
At : Paris
International Usher Info Symposium
From 07 to 09 October 2021
At : Online
Abstracts welcome before 30th August 2021.
ASHG 2021
From 19 to 22 October 2021
At : Online
12th International Society for Neonatal Screening (ISNS) European Regional Meeting
From 11 to 13 November 2021
At : Online
The Translational Science of Rare Diseases - From Rare to Care IV
From 31 March to 02 April 2022
At : Tutzing, Germany
International Primary Immunodeficiencies Congress – IPIC 5th Edition
From 28 to 30 April 2022
At : Vilamoura, Portugal
EURORDIS Black Pearl Awards 2022
On 09 February 2022
At : Online
The eleventh edition of the Awards will take place on TUESDAY, 8th FEBRUARY 2022 from 18:15 until 19:30 CET and will bring together persons living with a rare disease, patient advocates, policy makers, scientists, healthcare professionals, industry representatives, and more.
Hosted every February to coincide with Rare Disease Day, the EURORDIS Black Pearl Awards celebrate the inspirational qualities of people living with a rare disease along with those who go that extra mile to make a difference to their lives.
The black pearl symbolises those unique individuals, organisations, and companies who demonstrate an incredible combination of hard work and dedication in their daily lives.
Nominations are now open in 12 categories.
Grants
EJP RD – Networking Support Scheme (NSS) Call
The EJP RD Networking Support Scheme (NSS) call is open.
The first aim is to encourage sharing of knowledge on rare diseases and rare cancers of health care professionals, researchers and patients. The second aim is to enable or increase the participation of usually underrepresented countries in Europe (see below) in new and existing research networks. The scheme will provide financial support to applicants to organize workshops or conferences. The focus of these workshops or conferences should be (the implications of) research results and innovative solutions in compliance with the vision set by the International Rare Diseases Research Consortium (IRDiRC) : "“enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention”.
In this Networking Support Scheme applicants can apply for a budget of a maximum of 30,000 € per event.
The collection date is September 2, 2021 at 14.00 (CEST).
The most important change from June 3, 2021 is that applicants can choose between the format of a face-to-face meeting, an online meeting or a hybrid meeting if networking is secured. The Call documents have been changed acoordingly.
Please note: Are you planning to apply for the next rounds of the Networking Support Scheme? Please note that the documents have been updated in June 2021. Take care not to use earlier documents as they will not be eligible anymore.
Myotubular Trust: Call for Projects 2021
The Myotubular Trust (UK Registered Charity No: 1137177) was set up in 2006 to raise money for research to find a cure and / or treatment for any of the genetic forms of centronuclear and myotubular myopathy.
There are a number of genetically distinct forms of centronuclear and myotubular myopathy. The commonest is x-linked, usually called myotubular myopathy, affecting in the vast majority of cases, only boys. It is also usually the most severe, presenting in the new-born period and there are associated breathing and swallowing difficulties in addition to the general muscle weakness. The other forms are either dominant or recessive in inheritance, are usually, but not always, milder, and vary widely.
Myotubular Trust is holding a 2021 call for research grants. We will require completed applications by 1700 hours GMT Friday 29th October 2021. We anticipate making awards in April 2022.
We are looking to fund projects that will increase the clinical understanding of, and help find a cure and / or a treatment for any form of centronuclear and myotubular myopathy (congenital X-linked recessive; congenital autosomal recessive; autosomal dominant), focusing on research that would not generally be funded by public or industrial funding sources. This call will be open to international applications.
Applications may be made for:
- Project grants
We will consider applications from the Principal Investigator for projects of 2-3 years duration to be carried out by a post-Doctoral researcher, or PHD student
- A Myotubular Trust fellowship, non-clinical
The Fellowship scheme is designed to support early career scientists to help them to develop their independence. Applicants will have identified a host institution and will be undertaking a project of 3-4 years duration. This is not the same as a post doc position and should be designed and led by the fellowship applicant but with the support of the host lab.
In particular we would like to encourage the application of novel approaches and technologies to research into myotubular and centronuclear myopathy. We are interested in all aspects of translational research, including, but not limited to, interventional trials; studies that shed light on genotype/phenotype inter-relationships; studies on modifiers of disease progression and collaboration between different medical disciplines and / or different research institutions. We are also willing to consider applications which involve joint funding of new projects with other organisations.
Myotubular Trust’s Scientific Advisory Board (SAB) is chaired by Professor Francesco Muntoni of The Institute of Child Health, University College London. The SAB makes recommendations to the Myotubular Trust Trustees on which projects to fund, based on scientific assessment and peer review.
Courses and educational initiatives
EJP Online Training Session (Italian): Orphanet Nomenclature and Orphanet Rare Disease Ontology - ORDO
This online training session, in Italian, and organised by Bambino Gesu' Children's Research Hospital IRCCS in the scope of EJP-RD, is aimed at improving knowledge and basic skills about Orphanet nomenclature (including the ORPHA codes) and Orphanet Rare Disease Ontology - ORDO for clinicians/researchers, and for the IT teams involved.
This training has been developed by the Orphanet Network with the support of the EJP-RD Task 14-1 Scientific Committee (https://www.ejprarediseases.org/).
The workshop is open to the international research community, clinicians, medical specialists, RD biobank/registry managers, healthcare IT professionals and RD patient representatives.
By the end of the EJP RD 14.1 training module, participants will be able to:
1) Explain what the Orphanet nomenclature and the Rare Disease Ontology (ORDO) are
2) Access Orphanet data that is relevant to their rare disease research activities
3) Contribute to Orphanet data by using dedicated forms and helpdesks
Priority will be given to participants involved in the European Reference Networks (ERNs) and in national and international Rare Disease Programs and Projects.
The training and registration are free of charge. A certificate of attendance will be given at the end to the participants who attended the entire workshop. No credits of Continuing Education in Medicine will be issued. More information can be sought by contacting: orphanetitalia@opbg.net
REGISTRATION:
Online registration form: https://forms.office.com/r/VyY68C70yW
Registration deadline: 16th July 2021
IMPORTANT: To ensure active participation and exchange with teaching staff and participants, a limited number of participants will be admitted. A selection process will be applied by an ad-hoc committee (EJP RD representatives who organized the Training), using as selection criteria, the applicants’ backgrounds and their activities with reference to rare diseases research and/or biobanks.
A confirmation e-mail will be sent, by 30 July 2021, to the selected participants to the course.
Applicants who are not contacted by email should consider themselves not selected but will be kept on a waiting list until 1 September 2021.
EJP-RD and the Foundation for Rare Diseases : Online courses launched on "Diagnosing Rare Diseases - from the Clinic to Research"
The European Joint Programme on Rare Diseases has launched an online academic education course on rare diseases research topics. The development of the courses is coordinated by the Foundation for Rare Diseases, one of the EJP RD partners.
The first MOOC (Massive Open Online Course) “Diagnosing Rare Diseases: from the Clinic to Research and back” started on April 26th. This course aims to gain insight into patients’ experiences and discuss key issues relating to this topic.
It has been co-developed with representatives from ERN Ithaca (Prof Laurence Faivre, Dijon University Hospital), ERN Genturis (Dr Chrystelle Colas, Curie Institute) and Foundation for Rare Diseases (Roseline Favresse).
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.
This course will cover the following topics :
- The diagnostic process and the types of genetic tests available for rare diseases
- The differences in rare genetic diseases patient pathways
- Technological advances for diagnostic research
- The role of collaborative studies and data sharing in rare diseases diagnosis
- The impact of having or lacking a diagnosis on patients’ lives
- The role and place of physiopathology approaches as well as social sciences research in the context of rare diseases diagnosis.
EJP-RD: International Summer School on RD Registries and FAIRification of data
This course will be held online from 27 September – 1 October 2021, organised by the ISS (Task Leader ) in close collaboration with partners of task 14.5 and EJP-RD partners
Registration is open until 11 July 2021.
EJP-RD: Quality assurance, variant interpretation and data management in the NGS diagnostics era
This course will be held online from 27-19 October 2021, organised by the ISS (in close collaboration with Task Leader, Ku Leuven, partner of task 14.2 and EJP RD partners).
Registration is open until 11 July 2021.
The 8th Rare Diseases Summer School
Because of the pandemic covid-19, the 8th Rare Diseases Summer School has been postponed and will be held from 13 July to 15 July 2022 in Kartause Ittingen. The rare diseases summer school is part of the curriculum of the PhD programs. It aims to provide an environment for informal exchange between PhD students and experts in the field of rare disease research. The application procedure will open in 2022.
ERN-Skin: Series of webinars
The ERN-Skin launches a series of scientific webinars on rare skin diseases. Each ERN-Skin thematic group organizes a one hour session, with 30 minutes presentation and 30 minutes discussion.
The next webinars will be held on:
- 29th June 2021, 1pm - 2pm CET :
- Genetic discoveries in ichthyosis - Keith Choate
- Chaired by Juliette Mazereeuw-Hautier (Toulouse)
- 6th July 2021, 1pm - 2pm CET :
- Combined cell and gene therapy for Epidermolysis Bullosa - Michele De Luca
- Chaired by Cristina Has (Freiburg) / Christine Bodemer (Paris)
Job opportunities
Financial and Administrative Officer
Please send your CV and cover letter with the reference 2020-US14-005 to:
- Ana Rath
- Tel : +33 (0)1 56 53 81 37
- jobs.orphanet@inserm.fr
EURO-NMD: Webmaster & Community Manager
You will be responsible for supporting EURO-NMD’s internal and external communications strategy, writing and disseminating relevant content related to the activity, and responding to requests from healthcare providers and patient representatives.
Please send your application (CV + cover letter) by e-mail to the following address: recrutementaim@institut-myologie.org