HGVS nomenclature course at ESHG
Date: 15 June, 2018
Venue: Milan, Italy
21st Paris Summer School of Myology
Date: 18-23 June, 2018
Venue: Paris, France
Genopole Summer School 2018: BIOINFORMATICS AND BIOSTATISTICAL tools in medical genomics
Date: 25-29 June, 2018
Venue: Château'Form Seine-Port ,[nbsp France
International Degos Disease Symposium
Date: 27 April, 2018
Venue: Bethesda, United States
This Symposium will provide a forum for clinicians and patients to come together in an environment focusing on research and the clinical aspects of Degos Disease. The symposium agenda will incorporate patient-centric topics that focus on the many challenges faced by clinicians, researchers, and patients. Planned topics include progress made, next steps, and critical questions that need to be addressed. For further information
2018 ANNUAL CONFERENCE ON WILSON DISEASE
Date: 27-28 April, 2018
Venue: Houston, United States
The conference aims to provide recent findings and the challenges faced by patients in the diagnosis of Wilson disease. 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
2018 IPPF Pre-IID Meeting, Pemphigus and Pemphigoid: “A New Era of Translational and Clinical Science”
Date: 15-16 May, 2018
Venue: Orlando, United States
The goal of the meeting is to bring together pemphigus and pemphigoid patients, clinicians, researchers, and industry partners to focus on ongoing or future clinical trials and their underlying science. In addition to clinical and scientific data, the agenda includes discussion of disease-specific instruments for use in clinical trials and a panel discussion with patients, investigators and industry describing their experience enrolling in clinical trials. For further information
Exploring the Potential Impact on Quality of Care in the EU
Date: 6 June, 2018
Venue: Brussels, Belgium
New technologies are a key component for the improvement of healthcare systems. It is, therefore, crucial to carefully evaluate the cost-effectiveness of new technologies and assess what works and does not work for patients and providers. 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
ESHG: European Human Genetics Conference in conjunction with the European Meeting on Psychosocial Aspects of Genetics
Date: 16-19 June, 2018
Venue: Milan, Italy
The ESHG aim to take the first step for the next 50 years delivering a conference showcasing the latest findings in the field of human genetics, both basic and applied. The conference will be held in conjunction with the European Meeting on the Psychosocial Aspects of Genetics, emphasising the multidisciplinary and international remit of the Society. For further information
OIF NATIONAL CONFERENCE
Date: 13-15 July, 2018
Venue: Baltimore,[nbsp United States
The Osteogenesis Imperfecta (OI) community will come together for three days of specialized sessions on managing OI, free medical consultations and fun social events for attendees of all ages! nbsp]For further information
Family Conference for myotubular and centronuclear myopathy
Date: 14-15 July, 2018
Venue: London, United Kingdom
The conference, which is being hosted jointly by Myotubular Trust and ZNM - zusammen stark e. V., provides the opportunity to hear scientific presentations including recent developments on potential treatments for all centronuclear myopathies. There will also be a series of workshops on topics such as ventilation, physiotherapy, nutrition, independent living, holidaying and wheelchair services. For further information
The 2018 Lymphangiomatosis & Gorham’s Disease Alliance Patient & Family Conference
Date: 27-28 July, 2018
Venue: Dallas, United States
The conference will focus on generalized lymphatic anomaly / lymphangiomatosis (GLA), Gorham-Stout disease (GSD), and Kaposiform lymphangiomatosis (KLA). Leading clinicians and researchers will speak on topics including diagnostic approaches, challenges in clinical management, and ongoing and future research efforts. 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
11th ISNS European regional meeting
Date: 14-17 October, 2018
Venue: Bratislava, Slovakia
The conference will be focusing on the reality of screening results related to scientific and technological advancements. These changes are rapidly enabling neonatal screening forever more congenital conditions to become available. The keyword for this conference is 'reliability'. For further information
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.
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.
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.
DEADLINE: 24 April, 2018
In order to stimulate research and studies on Friedreich's Ataxia, the French Friedreich's Ataxia Association (A.F.A.F.) will be offering in July 2018 grants for a total amount of 150,000 euros. Individual grants shouldn’t exceed 25.000 €/year, up to two years.
The fields considered will include the basic aspects of the disease (genetics, biochemistry, neurobiology) in either humans or animal models, as well as clinical research.
DEADLINE: 27 April, 2018
The ATAXIA OF CHARLEVOIX-SAGUENAY (ARSACS) foundation offers annual research fellowships that will lead to a treatment for autosomal recessive spastic ataxia of Charlevoix-Saguenay.
DEADLINE: 25 May, 2018
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
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
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.
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.
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 an MSc biomedical or life science (or equivalent).
The Editor of the OrphaNews International newsletter organises and carries out a regular survey of literature and resources concerning rare diseases, with a focus on the political evolutions. The Editor writes the content of the OrphaNews International newsletter in English.