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, France
ERN- SKIN training 2018
Date: 23 November, 2018
Venue: Bambino Gesù Hospital (Rome), Italy
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
8th Genomics & Big Data Summit
Date: 7-8 June, 2018
Venue: San Diego, United-States
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
13th Meeting of the Mediterranean Society of Myology – 2ndCongress of the Turkish Neuromuscular Society
Date: 27-29 June, 2018
Venue: Cappadocia, Turkey
The aim of the meeting is to bring researchers together with interest in basic and clinical science. The special topic for this congress is ‘’limb-girdle muscular dystrophies’’. For further information
6th Translational Research Meeting on Peripheral Neuropathies
Date: 28 June, 2018
Venue: Paris, France
For further information
15th International Congress on Neuromuscular Diseases
Date: 6-10 July, 2018
Venue: Vienna, Austria
The expected aim of the Congress is to update attendees' view on neuromuscular disorders and to show that the networking opportunities can increase their international experience and collaborations. The scientific and program committee have been invited from all continents around the world to enable this wide spectrum. 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
4th International Scientific Symposium on Usher Syndrome
Date: 19-21 July, 2018
Venue: Mainz, Germany
The aim of the meeting is to bring together the world’s leading experts from different fields of research (diagnostics, genetics, therapy, structural, molecular and cell biology) to present the latest developments in Usher syndrome. 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
1st European Transition Symposium
Date: 14 September, 2018
Venue: Lausanne, Switzerland
The aim of this symposium is to gather experts in transition from around Europe in order to share experiences and think together on where to go from now on. For further information
Gene Therapy Partnering Day
Date: 17 September, 2018
Venue: Paris, France
This one-day international matchmaking event aims to foster future public-private or public-public R&D collaborations by leveraging the complementarity of expertise and resources from academic researchers, clinicians, and biotech/medtech companies offering innovative technological solutions for gene therapy. For further information
Rare Diseases and Orphan Products Breakthrough Summit
Date: 15-16 October, 2018
Venue: Washington, United States
The NORD Rare Summit, which historically features more than 20 speakers from FDA and more than 80 thought leaders from the patient community and industry, provides a unique opportunity to hear from the experts and join the conversation on issues of unprecedented importance. 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.
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 Histiocytosis Association 2018 Research Program is now accepting proposals focusing on the causes, mechanisms, and improved means of treatment for histiocytic disorders. Proposals must be received online by July 1, 2018. Grant awards will be up to $50,000 USD each.
DEADLINE: 1st July, 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 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.