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
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.
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
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
Job opportunities
Document resource manager - Clinical signs
Please send your CV and cover letter to:
- Annie OLRY
- E-mail : jobs.orphanet@inserm.fr
- Tél : +33 (0)1 56 53 81 37
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
NORD creates Rare Disease Patient & Caregiver Resource Center
The National Organization for Rare Diseases (NORD) offers at this date webinars, videos, fact sheets and other resources in addition to the reports.
NORD has now created a Patient and Caregiver Resource Center to help patients and caregivers to find these resources.
The Resource Center includes links to educational videos and webinars as well as information on financial support, advocacy, fact sheets, and more. It will be updated as new resources are added.
An NPR article on rare childhood cancer
Esther Landhuis, a freelance science journalist in the San Francisco Bay Area, wrote a piece on rare childhood cancer for NPR. She told the story of a mother of a 16 year old boy who suffered from epithelioid sarcoma. She also wrote about the Children's Cancer Therapy Development Institute, or cc-TDI, a nonprofit biotech lab that brings families and researchers together to push the field forward.
Mia's Story: A Butterfly Child
“You hear it all the time. When a family is expecting a baby, friends and family wish them a happy, healthy child. So how can a family manage if their child is born with a health condition? The Vassallo Idiens family were faced with this very question. And as they are known to do, they chose to thrive alongside their new healthcare challenge.
Join baby Mia in her very own children’s book, as she brings us into the world of her hereditary skin condition, Epidermolysis Bullosa (E.B.). Penned by her mother and maternal grandmother, and illustrated by her uncle, Mia takes children and families alike through the day to day life of a toddler, and shares the moments that make living with her health condition a lesson for all.
Mia’s is a story of empowerment, of celebrating what’s different about us, and yet, what is the same. It’s a short story about treating each child with the dignity and compassion that they deserve. It will uplift you, it will inspire you, and you’ll find new ways to think about surviving and thriving in your own life.”
All proceeds from the book sale and donations are going to the EB community, EB families and The Hospital for Sick Children (Sick Kids).