15th Annual International Symposium on Mucopolysaccharidosis and Related Diseases
From 03 to 05 August 2018
At : San Diego, USA
Events
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism
From 05 to 08 August 2018
At : Athens, Greece
Hemophilia Drug Development Summit
From 15 to 17 August 2018
At : Boston, USA
Brittle Bone Society 50th Anniversary Celebrations
From 18 August to 21 July 2018
At : Dundee, Scotland
4th European Conference "Aniridia, iris and cornea developmental anomalies"
From 26 to 27 August 2018
At : Paris, France
Duchenne Care Conference
7 September 2018
Venue : Amsterdam, Netherlands
16th International Conference on Neuronal Ceroid Lipofuscinoses (Batten Disease)
From 13 to 17 September 2018
At : University of London, UK
1st European Transition Symposium
14 September 2018
Venue : Lausanne, Switzerland
Zebrafish Models for Human Eye Diseases Event
From 15 to 16 September 2018
At : Freiburg, Germany
Registration deadline 31 July 2018.
Challenges and perspectives in integrative bioinformatics
17 September 2018
Venue : Paris, France
2nd Annual World Congress: Lessons Learned from Rare Disease and Personalized Medicine Approaches
From 18 to 19 September 2018
At : Cambridge, MA, USA
Journée annuelle des surdités génétiques
19 September 2018
Venue: Paris, France
13th International Conference on Rare Diseases and Orphan Drugs (ICORD 2018)
From 20 to 22 September 2018
At : Stockholm, Suède
10e Journée interdisciplinaire du muscle inflammatoire
20 September 2018
Venue : Paris, France
Assemblée générale annuelle de l’Alliance européenne des associations de maladies neuromusculaires
From 21 to 24 September 2018
At : Prague, République Tchèque
Genetic Alliance UK Annual Conference 2018
25 September 2018
Venue : London, UK
Second XLH Symposium
26 September 2018
Venue : Aegli Zappeion, Greece
This one-day event is dedicated to X–Linked Hypophosphatemic rickets (XLH) and will bring together experts, patients and parents from across the globe to discuss all aspects of this disorder; pathophysiology and current research, clinical manifestations, challenging cases and treatment throughout the lifespan.
International Symposium on the Ehlers-Danlos Syndromes
From 27 to 30 September 2018
At : Ghent, Belgium
GA4GH 6th Plenary Meeting
From 04 to 06 October 2018
At : Basel, Switzerland
11th International Society of Neonatal Screening European Regional Meeting
From 15 to 18 October 2018
At : Bratislava, Slovaquie
NORD's Rare Diseases and Orphan Products Breakthrough Summit
From 16 to 17 October 2018
At : Washington D.C., USA
SMi Orphan Drugs & Rare Diseases 2018 Conference
From 18 to 19 October 2018
At : London, UK
American Society of Human Genetics
From 17 to 21 October 2018
At : San Diego, USA
Family Conference CGD society
From 20 to 22 October 2018
At : Cobham, Surrey, UK
Annual Meeting of the Histiocyte Society
From 23 to 24 October 2018
At : Lisbon, Portugal
9th World Orphan Drug Congress
From 07 to 09 November 2018
At : Barcelone, Espagne
BioHackathon 2018 Paris
From 13 to 17 November 2018
At : Campus des berges de Seine, Seine-Port, France
ELIXIR France with the support of the ELIXIR Hub and the ELIXIR interoperability platform and in collaboration with COST CHARME, the National Bioscience Database Center (NBDC) and the Database Center for Life Science (DBCLS), is organising a BioHackathon in November 2018 in Paris. This BioHacakthon will complement and work in collaboration with the BioHackathon planned in Japan at the end of 2018.
International Neurology Conference
From 04 to 06 December 2018
At : Valence, Espagne
World Congress on Rare Diseases
From 06 to 08 December 2018
At : Dubai, Émirats arabes unis
Courses & Educational Initiatives
Second ERN-EYE workshop
From 11 to 13 October 2018
At : Florence, Italy
This ERN-EYE workshop will be mainly dedicated to genetic testing and will allow the publication of a white paper on genetic testing for rare eye diseases in the European Union, coordinated by the chairs of the TWG6 genetic testing group, Prof. Graeme Black and Prof. Frans Cremers.
Second ROAD Network Winter School
From 07 to 08 December 2018
At : Paris, France
This event is dedicated to « New Progress in Osteoarticular Research : From Cell Environment to Human Ecosystem ».
Abstract submission is now open, until 14 September 2018. Registration is free but required on account of limited places.
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
NIH : Clinical Trial Readiness for Rare Neurological and Neuromuscular Diseases
DEBRA International: Chronic Inflammation and Fibrosis in EB Research Call
DEBRA International is now inviting expressions-of-interest for research into the processes of chronic inflammation and fibrosis (CIF) in epidermolysis bullosa (EB). Research into the role of these processes and aberrant wound healing in the initiation and spread of associated squamous cell carcinoma (SCC) in EB is also welcome.
The focus of the call is on chronic inflammation and fibrosis in EB, for the purpose of identifying possible targets for treatment or prevention, and preventing the initiation or spread of associated squamous cell carcinoma. Development of therapies that would address the underlying genetic defect, or established agents/methods that are used to treat squamous cell carcinoma fall outwith the scope of this call. Proposals in the latter categories may be submitted to the DEBRA International 'All-Priorities Spring 2019 Research Call'.
The Stage 1 form to register an "Expression of Interest" should be submitted via the online system by 17 September 2018.
Partner Search
Call for projects: Mise à disposition d'une base de données et d'analyse des projets de recherche sur les maladies rares pour l'Inserm-US14
Job opportunities
Documentary ressources officer
Please send your CV and cover letter citing the reference US14-2018-05 to:
- Montserrat ALFARO
- Tel : +33 (0)1 56 53 81 37
- jobs.orphanet@inserm.fr
Responsable des ressources et de l'ingénierie documentaires anglophone (H/F)
Le/La responsable de ressources documentaires anglophone rédige et/ou actualise les articles de l’encyclopédie professionnelle Orphanet sur la base des informations scientifiques et médicales pertinentes. Il/elle met en place le circuit de validation de ces textes en relation avec la Responsable de l’encyclopédie et en interaction avec des experts internationaux. Il/Elle élabore les propositions de mise à jour l’inventaire des maladies rares d’Orphanet sur la base des informations scientifiques et médicales collectées lors de l’actualisation des articles de l’encyclopédie professionnelle Orphanet.
Pour postuler :
Adresser votre CV et lettre de motivation sous la référence US14-2018-05
- Annie Olry
- E-mail : jobs.orphanet@inserm.fr
- Tél : +33 (0)1 56 53 81 37
Chargé/e de ressources documentaires – Laboratoires médicaux
Au sein de l’équipe Base de Données des Ressources expertes, le/la chargé(e) d’information laboratoires médicaux assure l’identification, la collecte et la saisie dans la base de données de ressources expertes en maladies rares, en particulier les laboratoires médicaux français, leurs tests diagnostiques et leurs processus de qualité. Il participe aussi à la coordination du réseau Orphanet, en particulier en ce qui concerne les tests diagnostiques utilisant les techniques de séquençage haut débit, et les processus de qualité des laboratoires.
L’ensemble de ces missions se réalisent sous la supervision du Responsable de la Base de Données Ressources expertes et sous la responsabilité de la Direction de l’Unité.
Pour postuler :
Adresser votre CV et lettre de motivation sous la référence US14-2018-04
- Martin Arles
- E-mail : jobs.orphanet@inserm.fr
- Tél : +33 (0)1 56 53 81 37
Media
Gene Therapy: Your Questions Answered
The National Organization for Rare Disorders (NORD) launched "Gene Therapy: Your Questions Answered", a new video from its RareEDU educational program addressing some of the most commonly asked questions from patients and caregivers on the topic.
NORD launched "5 myths about orphan drugs"
The National Organization for Rare Disorders (NORD) launched in May RareInsights™, its new initiative to expand public knowledge of rare diseases and translate that knowledge into real-world solutions for patients and families, and kicked off the program with the infographic 5 Myths About Orphan Drugs and the Orphan Drug Act.
Pill of Knowledge (PoK) video from VASCERN
The PoK is entitled “An Overview of Pediatric and Primary Lymphedema” and was created by Natascha Assies (NLNet), ePAG Co-chair of the PPL-WG and validated by the experts of the PPL-WG. Michelle Daly also contributed to the video.
The video introduces the lymphatic system and gives a brief summary on what exactly is lymphedema. Diagnosis, treatment, and complications are all explained in a clear and understandeable manner, making this video accessible to patients and the general public.