1st global congress on epidermolysis bullosa
From 20 to 24 January 2020
At : London, UK
Events
Myology 2019
From 26 to 29 March 2019
At : Bordeaux, France
International Primary Immunodeficiency Congress 2019
From 07 to 09 November 2019
At : Madrid, Spain
Courses & Educational Initiatives
1rst workshop on ancient rare diseases
From 27 February to 01 March 2019
Venue : Berlin, Germany
EURORDIS Winter School 2019
From 12 to 16 March 2019
At : Imagine Institute, Paris, France
Applications are now open. Applicants will be notified of the outcome of their application by mid October.
Grants
EJP RD Joint Transnational Call 2019 is now OPEN!
Topic: Research projects to accelerate diagnosis and/or explore disease progression and mechanisms of rare diseases
Transnational research proposals must cover at least one of the following areas, which are equal in relevance for this call:
Research to accelerate diagnosis, e.g:
- New schemes for finding diagnosis for undiagnosed patients;
- Improved annotation and interpretation of variants and development of diagnostic tests for the more prevalent variants;
- Novel modalities of functional analysis of candidate variants through in vitro, cell, tissue or animal studies;
- Omic or multi-omic integrated approaches for discovery of disease causes and mechanisms including development of relevant bioinformatic tools.
Research to explore disease progression and mechanisms, e.g:
- Natural history studies and patient registries (also for clinical trial readiness). Whenever possible these should include development and use of patient reported outcome measures. In addition, the exploration of the use of standardized M-Health-based surveillance instruments and of patient entered data to gather information for natural history studies is welcome;
- Identification of clinical biomarkers, clinical outcome measures and surrogate endpoints;
- Identification of novel pathophysiological pathways in appropriate disease models that effectively mimic the human condition.
The deadline for submitting the pre-proposals is February 15, 2019.
Please check all information on the website: ejprarediseases.org
FDA: Natural history studies for rare diseases with unmet needs
The FDA has launched a call for funding natural history studies for rare diseases with unmet needs. The goal of this call is to address current knowledge gaps and alleviate barriers in the field, in order to have major impact on either: a specific rare disease or multiple rare diseases with similar physiopathologies. This will further have an impact on the design of clinical trials and the medical product development.
Deadline: January 10, 2019
The French Haemophilia Association (AFH) 2018 call for proposal
This call for proposals aims to support an innovative project on new strategies for basic, preclinical or clinical research for patients with Von Willebrand Disease.
Potential applications of this project should be of benefit to patients. The proposal should foster progress on the diagnosis of the disease, on its understanding, to provide answers in the improvement of existing treatments or even to go towards new innovative therapies. All requests concerning all or part of these criteria will be considered.
Funding of €50,000, awarded for one year, will be awarded, preferably, in the form of a one-year fixed-term contract (established by agreement with the host organizations) to a postdoctoral researcher (clinician or scientist), physician, engineer, doctor, clinical research assistant.
Depending on the proposal(s) selected and the results obtained, the financial support of the AFH may be renewed annually, one or more times, or readjusted by the Board of Directors (CA) of the AFH. The amount of this future support is currently not defined and will depend on the donations collected by the association at their maturity.
Applicants must send to AFH a complete and detailed file, written in English to allow evaluation by international experts, indicating:
- Proposal presentation
- Presentation of the project leader
- Proposal summaries in French and English
- Description of the research project
- Information about the project team
- Administrative information concerning the structure attached to the proposal
The application file can be downloaded from the AFH website.
The deadline for submitting applications is 14 January, 2018.
Completed applications must imperatively be sent by mail to Geneviève Piétu (genevieve.pietu@afh.asso.fr).
AFH's Scientific Council will study the proposals.
Elements of the evaluation:
- Proposal Potential: Preliminary Results and Patient Interest in Expected Outcomes
- Feasibility of the proposal (acquired results, co-financing, scientific environment, collaborations, number of people or full-time equivalents involved ...)
- Adequacy of the applicant's budget
- Scientific merit of the applicant (course, publications) and his/her team (individual contribution of each member). Scientific quality of the host laboratory and the quality of the work done by the team during the last three years in this field.
The validation of the financing will be ratified by the Board of Directors of the AFH.
The results of the selection will be communicated to applicants in March 2019.
A written report to the scientific council, including a complete description of the expenses incurred, and the participation in the general assembly of the AFH will make it possible to evaluate and report on the progress of the work.
For any requests for additional information, you can contact the AFH:
Tel: + 33 (0)1 45 67 77 67 - Fax: + 33 (0)1 45 67 85 44
E-mail: info@afh.asso.fr - Website: www.afh.asso.fr
NIH: Exploratory/developmental research grant and research project grant
The NIH has launched a call specifically addressing caregivers symptoms through technological tools. This announcement is for the scientific community to focus onto caregivers, with the aim of enhancing symptom recognition and promoting technological strategies to alleviate their distress. There is one available exploratory/developmental research grant and one research project grant.
Open Date (Earliest Submission Date): January 16, 2019 and January 5, 2019, respectively
NIH: Funding opportunity for rare disease cohorts in heart, lung, blood and sleep disorders
The NIH has released a notice of intent for publishing a funding opportunity for rare disease cohorts in heart, lung, blood and sleep disorders. The National Heart, Lung and Blood Institute wishes to establish cohorts in rare heart, lung, blood, and/or sleep (HLBS) diseases to allow natural history and mechanistic studies that provide the evidence base for future clinical trials and improved diagnostics.
Estimated Synopsis Post Date: December 1, 2018
Estimated Application Due Date: February 1, 2019
Histio UK call for proposals
Applications are invited for studies the histiocytic disorders including Histiocytic Lymphohistiocytosis (HLH), Langerhans Cell Histiocytosis, or rare histiocytic disorders for a maximum budget of £50,000 and duration of up to 24 months.
Histio UK will consider scientific and clinical research on the epidemiology, pathogenesis, diagnosis, treatment and clinical care of patients with histiocytosis.
Applicants will be required to describe the likely impact of their research upon patients with histiocytosis and to outline a plan to attract further independent funding, using the award to drive forward new competitively-funded research relevant to histiocytosis. The credibility of these sections of the application will be central to a successful outcome through the review process.
The scientific review board will meet to discuss applications in May and submit their recommendations to the Trustees for approval soon after.
Eligible costs include salaries and consumables for researchers directly engaged in the proposed study but will not include PI salary, overheads, IT equipment or travel.
Closing date for applications of 5pm GMT 18 February 2019.
Job opportunities
Project Manager Software Engineering
Please send your CV and cover letter to with the reference US14 to:
- Marc HANAUER
- E-mail : jobs.orphanet@inserm.fr
- Tel : +33 (0)1 56 53 81 51
Mission manager - Rare diseases nomenclature
Please send your CV and cover letter to with the reference US14-2018-14 to:
- Annie OLRY
- E-mail : jobs.orphanet@inserm.fr
- Tel : +33 (0)1 56 53 81 37
Scientific and Medical Officer of the database "Rare Diseases"
Please send your CV and cover letter to with the reference US14-2018-15 to:
- Annie OLRY
- E-mail : jobs.orphanet@inserm.fr
- Tel : +33 (0)1 56 53 81 37
Scientific Officer within the European Virtual Research Platform for Rare Diseases
Please send your CV and cover letter to with the reference US14-2018-16 to:
- Ana RATH
- E-mail : jobs.orphanet@inserm.fr
- Tel : +33 (0)1 56 53 81 37
Media
New Global FKRP Patient Registry newsletter
The new Global FKRP Patient Registry newsletter (7th edition - October 2018) has been published and can be viewed online.