Courses & Educational Initiatives
21st Paris Summer School of Myology
Date: 18-23 June, 2018
Venue: Paris, France
UZH - KFSP radiz: 6th Rare Diseases Summer School
Date: 11-13 July, 2018
Venue: Warth, Switzerland
Courses & Educational Initiatives and Events
Events
International Association for Responsible Research and Innovation in Genome Editing (ARRIGE)
Date: 23 March, 2018
Venue: Paris, France
The meeting will promote a global governance of genome editing and provide a comprehensive setting for all stakeholders to allow the development of paramount technologies in a safe and socially-acceptable environment. For further information
International Symposium “Translational Science of Rare Diseases – From Rare to Care III
Date: 11-13 April, 2018
Venue: Tutzing, Germany
The meeting will bring high-profile scientists from around the world and will focus on how basic science on rare diseases can have an impact on the development of novel therapeutic strategies. For further information
26th annual Henry Kunkel society meeting in partnership with the journal of experimental medicine
Date: 12-14 April, 2018
Venue: Paris, France
Fundamental and clinical insights from the study of monogenic auto-inflammation and autoimmunity in humans. For further information
European Conference on Rare Diseases 2018: Registrations and call for poster abstracts open
Date: 10-12 May, 2018
Venue: Vienna, Austria
The European Conference on Rare Diseases 2018 (https://www.rare-diseases.eu) Co-organised by EURORDIS (www.eurordis.org), DIA, and for the first time Orphanet, the theme of this edition of the conference will be "Rare Diseases 360°: Collaborative Strategies to leave no-one behind". The programme, registration and call for poster abstracts have now been published. Poster submissions are open until 31st January 2018. For further information
4th World Congress: Rare Diseases and Orphan Products
Date: 11-12 June, 2018
Venue: Dublin, Ireland
The congress will serve as a bridge between researchers from academia and healthcare centres. The programme includes scientific sessions, plenary lectures, poster presentations, world-class exhibitions, diverse symposiums, highly enriched workshops and B2B meetings. For further information
15th Annual International Symposium on MPS and Related Diseases
Date: 2-4 August, 2018
Venue: San Diego, United States
This symposium is an opportunity for the MPS and related diseases community to share and exchange new information, learn about new breakthroughs in science and medicine, and develop strategies to keep us moving forward. As we look to an exciting future filled with opportunities on a global scale, we thank you for your hard work and dedication to eradicating these diseases and welcome you to the 15th International Symposium on MPS and Related Diseases. For further information
SSIEM Annual Symposium: 'Old roads, New connections'
Date: 4-7 September, 2018
Venue: Athens, Greece
The theme of the scientific program is: “Old Roads, New Connections”. The objective of the symposium is to show how ‘OLD’ knowledge is being transformed and ‘NEW CONNECTIONS’ are being recognized. Giving a better understanding of the physiology and thus the pathophysiology of IEM’s and provide new diagnostic tools and new targets for treatment. For further information
Grants
NeurATRIS call for innovative and collaborative neurodegenerative disease: Huntington disease project
The call aimed at fostering collaborative projects between NeurATRIS members and scientific community involved in neurodegenerative disease projects. Academic research laboratories and biotechs are welcome to apply.
Successful applicants will have access to high-quality technological platforms, expertise and support from NeurATRIS partners, such as advanced neuroimaging technologies, HTS/HCS, cell and animal models, behavioural testing, viral vectors core facilities, etc. Selected research teams will have access to core facilities in one or several NeurATRIS research centres.
DEADLINE: applications are reviewed by the committee once a month.
Center for Inherited Disease Research (CIDR) High Throughput Sequencing and Genotyping Resource Access
The Center for Inherited Disease Research (CIDR) high-throughput genotyping, sequencing and supporting statistical genetics services are designed to aid the identification of genes or genetic modifications that contribute to human health and disease or to enhance existing collections of well-phenotyped specimens by the addition of genotype or next-generation sequence data. The laboratory specializes in genomic services that cannot be efficiently carried out in individual investigator laboratories. CIDR provides the most up-to-date platforms, services and statistical genetic support. This is an NIH-wide initiative that is managed by NHGRI.
DEADLINES: Applications will be reviewed no later than 120 days after receipt of application with one meeting in each of the following windows: September 2017; November 2017; January 2018; March 2018, April-May 2018; July 2018; September 2018; November 2018; January 2019; March 2019; April-May 2019; July 2019; September 2019; November 2019; January 2020; March 2020; April-May 2020; July 2020.
Building international efforts on population and patient cohorts
Cohorts are invaluable resources to obtain a detailed description of individual biological variations in connection with a variety of environmental, pathogenic, occupational, societal, and lifestyle determinants that influence the onset and evolution of diseases. Europe currently has some of the most valuable population and patient cohorts, including well-annotated clinical trial cohorts. Several large cohorts have also been developed in various parts of the world. Despite recent efforts to network cohorts, the level of integration needs to be escalated in order to optimise the exploitation of these resources, essential to underpin and facilitate the development of stratified and personalised medicine.
DEADLINE: 18 April, 2018
Rare Disease European Joint Programme Cofund
Substantial funding from the EU Framework Programmes for Research and Innovation has had an integrating effect in the field, and three consecutive ERA-NETs have built the base for close research collaboration between Member States. European Reference Networks (ERNs) established under the Directive on Patients' Rights in Cross-Border Healthcare will bring a major structuring effect on research and care by linking thematic expert centres across the EU.
There is a need to more efficiently bring the results of rare diseases research and innovation to patients in terms of new and optimised treatment options, diagnostic tools and integrated care, making sure that patients maximally benefit from the research and investments done at the EU and Member States levels.
DEADLINE: 18 April, 2018
2018 IFCAH project grant support
IFCAH is a private fund, aimed to promote research on Congenital Adrenal Hyperplasia (CAH). In 2018, it launches its eighth call for proposals, in association with ESPE. A total amount of 350.000€ is associated to this program. Participation is open worldwide and should, if possible, include teams based in Europe. This restriction does not apply to projects aimed on gene or cellular therapies approach in CAH, which team can work all over the world.
DEADLINES: 15th January, 2018: Letters of intention and 23th April, 2018: Full application
Scientific calls for proposals, PhD Fellowships (AFM Telethon, France)
This international call for proposals, open to both French and foreign groups, aims to support research which will increase the understanding of the neuromuscular system and the understanding of the clinical and genetic heterogeneity of neuromuscular diseases. A special attention will be given to projects on epigenetics in neuromuscular diseases.
It also encourages the development of therapies for neuromuscular diseases and rare genetic diseases. For further details
DEADLINE: 24 April, 2018
Natural History Studies for Rare Disease Product Development: Orphan Products Research Project Grant (R01) (FDA, USA)
The objective of FDA’s Orphan Products Natural History Grants Program is to support studies that advance rare disease medical product development through characterization of the natural history of rare diseases/conditions, identification of genotypic and phenotypic subpopulations, and development and/or validation of clinical outcome measures, biomarkers and/or companion diagnostics. Applicants must include in the application’s Background and Significance section documentation to support that the estimated prevalence of the orphan disease or condition in the United States (US) is less than 200,000 (or in the case of a vaccine or diagnostic, information to support that the product will be administered to fewer than 200,000 people in the US per year), and an explanation of how the proposed study will either help support product approval or provide essential data needed for product development.
DEADLINES: 31 August, 2018 for the letter of intent and 15 October, 2018 for the application
Clinical Studies of Safety and Effectiveness of Orphan Products Research Project Grant (FDA, USA)
The objective of FDA’s Orphan Products Program is to support the clinical development of products for use in rare diseases or conditions where no current therapy exists or where the product being developed will be superior to the existing therapy. FDA provides grants for clinical studies on safety and/or effectiveness that will either result in/or substantially contribute to, market approval of these products. Applicants must include in the application’s Background and Significance section documentation to support the assertion that the orphan disease or condition to be studied is a “rare disease or condition” and an explanation of how the proposed study will either help support product approval or provide essential data needed for product development.
DEADLINE: 15 October, 2018
Job opportunities
ORPHANET: Content Acquisition Manager
The content acquisition manager is responsible for collecting, integrating rare diseases content to the Orphanet database and to update its current content. S/he also has to write scientific articles to support the Orphanet work and publish new content about its advances in the rare diseases field. The job offer is in French and requires French/English speaking/writing skills to enable the content manager to interact with the whole Orphanet team members.
ORPHANET: Scientific & Clinical Data Manager
The Scientific & Clinical Data Manager helps implement and conceive a new project presenting 'Rare Diseases Cases Ontology – RDCO', in collaboration with the Orphanet Rare Disease Ontology (ORDO) manager. He/she controls the Orphanet database and the rare diseases' classification system according to the RDCO's results. He/She manages the Human Phenotype Ontology annotations related to the Orphanet rare diseases nomenclature and sets the data quality control under the supervision of the Rare Diseases Data Manager. French is the working language on site but English is required for all meetings, reports and interactions. The job offer is in French and requires French/English speaking/writing skills.
EURORDIS: Research & Policy Project Manager
The Research & Policy Project Manager (RPPM) is responsible for the support of EURORDIS’ involvement in Research Projects comprising activities related to rare disease research, diagnostics, infrastructures and technologies as well as related ethical issues.The candidate must have an excellent level of English and a minimum 'working level' in French and hold a minimum of a MSc biomedical or life science (or equivalent).