Rare 2030 Final Conference
On 24 February 2021
At : Brussels-Belgium
Events
EURORDIS Black Pearl Awards
On 25 February 2021
At : Brussels-Belgium
Huntington's Disease Youth Organisation - 1st Young Adult Congress
From 13 to 15 March 2021
At : Glasgow-Scotland
EuRRECa annual meeting 2021
On 13 April 2021
At : Milan-Italia
ESPE annual meeting 2021
From 08 to 10 May 2021
At : Liverpool-UK
European congress on Sudden Infant Death Syndrome (SiDS) and Sudden Unexpected Death of Infancy (SUDi)
From 11 to 13 May 2021
At : Montpellier-France
ECE annual meeting 2021
From 23 to 26 May 2021
At : Prague-Czech Republic
ESHG Online Conference
From 13 to 16 June 2021
At : Glasgow-Scotland
The Translational Science of Rare Diseases - From Rare to Care IV
From 30 September to 02 October 2021
At : Tutzing-Germany
RVA's biennial National Rare Disease Summit
From 13 to 14 November 2021
At : Sydney-Australia
Courses and educational initiatives
FAIRplus Fellowship Programme
The FAIRplus Fellowship Programme is a training programme in FAIR data management. The FAIRplus programme aimed at developing tools and guidelines for FAIR (Findable, Accessible, Interoperable, Reusable) life science data.
Eligible candidates to the training programme are from FAIRplus partner organisations.
There are also limited places for applicants from outside FAIRplus progamme (small and medium size of enterprises).
Interested candidates will apply by submitting a FAIRification project they will develop during the programme. The programme will start in April 2021, and will last 8 months.
Grants
EJP-RD : Internal call for proposals 2021 - Innovative statistical methodologies to improve rare diseases clinical trials in limited populations
The European Joint Programme on Rare Diseases (EJP-RD) has launched an internal call on innovative statistical methodologies in clinical studies to foster and improve RD clinical studies in limited populations.
The call for innovation projects aims to develop innovative statistical methodologies to address unmet needs associated with the development and the analysis of clinical studies in limited populations.
Application should address at least one of the pre-identified (but not limited to) promising areas:
- Develop a disease progression model from a natural history cohort or other observational studies.
- Develop and validate a disease specific clinically meaningful outcome with special interest in PCOMs, or composite endpoints.
- Develop a design and analysis procedure forapharmacometric model and/orbridging study.
- Develop a randomization-based model as an alternative analysis strategyand explore the level of evidence.
Submission of innovation projects is limited to partners from institutions beneficiaries of the EJP-RD. The proposers will be asked to submit their application the 3rd of March 2021 at: innovation.callsec@ejprarediseases.org
EJP RD : Call for Proposals 2021 - Social sciences and humanities research to improve health care implementation and the day-to-day life of rare diseases patients
The European Joint Programme on Rare Diseases (EJP RD), along with other national and regional funding organisations, will take part in the EJP RD Joint Transnational Call (JTC) 2021, on the topic of “Social sciences and humanities research to improve health care implementation and everyday life of people living with a rare disease”. Multilateral research projects on RD will be funded under the EJP-COFUND action. The list of funding agencies, from European countries, will be issued before the launch of the call.
The call will enable scientists from different countries to build effective collaboration on a common interdisciplinary research project on the basis of complementarities and sharing of expertise, and taking into account a clear future benefit for patients. Research proposals should at least cover one of the 7 areas selected for the 2021 EJP RD call for proposals, including economic impact of rare diseases, studies addressing the impact/burden of the delay in diagnosis and of the lack of therapeutic intervention, development and enhancement of health outcomes research methods in RD, and health and social care services research to improve patient and familial/household health outcomes.
The proposed preliminary timetable of the 2021 EJP RD call for Proposals comprises the five following phases, pre-proposal submission deadline (16th February 2021), invitation to full proposal (end of April 2021), full proposal submission deadline (15th June 2021), deadline for rebuttal (30th July 2021), and notification of funding decision (November 2021). The maximum project duration is three years, and will involve a group of rare diseases or a single rare disease candidate (European definition: a RD affecting not more than five in 10.000 persons in the European Community), European Commission associated states and Canada.
Job opportunities
Genes and diseases database officer
Please send your CV and cover letter with the reference 2020-US14-002 to:
- Annie OLRY
- E-mail : jobs.orphanet@inserm.fr
- Tel : +33 (0)1 56 53 81 37
Responsible of the database on rare diseases epidemiology
Please send your CV and cover letter with the reference 2020-US14-001 to:
• Annie OLRY
• E-mail : jobs.orphanet@inserm.fr
• Tel : +33 (0)1 56 53 81 37
European Interoperability Data Steward
EJP RD
Please send your CV and cover letter to:
- E-mail : celine.angin@aphp.fr
VASCERN Project Manager
ERN
Please send your CV and cover letter to:
- Marine HURARD
- E-mail : marine.hurard@aphp.fr
Media
Dancing at the Vatican : A new Huntington's documentary
Dancing at the Vatican is an inspirational documentary telling the story of a seemingly impossible journey made by families bound by the same devastating, genetically inherited disease, Huntington's.
Leaving the poorest corners of Latin America for the first time, they make it to Rome; not just to a Papal audience, but other, unimaginable, surprises. The event became the biggest ever global gathering for this long-stigmatised disease, as generations of shame and stigma were shed, for a day.
The film is available with Spanish, Italian, French, Portuguese, German and English subtitles.
NORD : Video demonstrating the importance of data sharing to improve the understanding of rare diseases
A new video about "How Does Data Sharing Improve the Understanding of Rare Diseases?" is available.
This video is the second installment in NORD and C-Path’s new Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) video series. The Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) initiative aims to allow patient organisations to leverage the data they have collected to accelerate understanding of disease progression, clinical outcome measures and biomarkers for rare diseases.
This video features three patient advocacy group leaders on the importance of patient-reported data to progress in rare disease.
NORD : Video on the importance of participation in RDCA-DAP
A new video of the NORD and C-Path’s video series is available on the importance of patient-reported data to progress in rare disease.
This video features patient advocacy group leaders sharing thoughts on the importance of participation in Rare Disease Cures Accelerator-Data and Analytics Platform.
Innovation Management in the Intelligent World : R&D Management in Rare Disease Focused Biotechnology Companies: The Case of Shire
A new book "Management in the Intelligent World" has been published to present the current state, opportunities and challenges of technology and innovation management.
Written by a mix of academic scholars and practitioners, the respective chapters present tools and approaches for the early detection of emerging fields of innovation, as well as relevant processes and resources.
A chapter is dedicated to Shire, a global biotechnology company focused on treating rare diseases, entitled "R&D Management in Rare Disease Focused Biotechnology Companies: The Case of Shire."
Innovative Methods for Rare Diseases Drug Development
A new book entitled ""Innovative Methods for Rare Disease Drug Development" has been published about biostatistical applications in terms of design and analysis in pharmaceutical research and development from both regulatory and scientific (statistical) perspectives.
A chapter entitled "Innovative Approach for Rare Diseases Drug Development" suggested that innovative design and statistical methods should be considered and implemented for obtaining substantial evidence regarding effectiveness and safety in support of regulatory approval of rare disease drug products.