International Pemphigus & Pemphigoid Foundation- 2021 Patient Education Conference
On 25 October 2021
At : Online
Events
Management of cloacal malformations – what is new in 2021?
On 27 October 2021
At : Online
Webinar: Pelizaeus-Merzbacher disease and related disorders
On 27 October 2021
At : Online
RDCA-DAP Professional Webinar Series: RDCA-DAP Collaboration with Clinerion for Real World Data Solutions
On 28 October 2021
At : Online
Resource Webinar: Sample Catalogue & BBMRI-ERIC Directory & Negotiator
On 28 October 2021
At : Online
U-PGx Personalized Medicine Symposium
From 28 to 29 October 2021
At : Leiden, Netherlands
International Scientific Meeting for PIK3CA Related Conditions
From 29 to 30 October 2021
At : Online
3rd International Congress on Mobile Device and Seizure Detection in Epilepsy
From 29 to 31 October 2021
At : Copenhagen, Denmark
ESPE Science Symposium 2021- Congenital Adrenal Hyperplasia
From 30 to 31 October 2021
At : Online
MYO-MRI Imaging in Neuromuscular Disease Conference 2021
From 09 to 10 November 2021
At : Online
Europe Biobank Week 2021
From 09 to 11 November 2021
At : Online
PFF Summit 2021: Pulmonary Fibrosis Foundation’s sixth biennial health care conference
From 09 to 14 November 2021
At : Online
Webinar: Clinical Outcome Assessments in Ataxias
On 10 November 2021
At : Online
Joint DIA/EMA/FDA Orphan Drug Designation Workshop
From 11 to 12 November 2021
At : London, United Kingdom
12th International Society for Neonatal Screening (ISNS) European Regional Meeting
From 11 to 13 November 2021
At : Online
ITINERARE Symposium 2021
On 13 November 2021
At : Zurich, Switzerland
RVA's biennial National Rare Disease Summit
From 13 to 14 November 2021
At : Sydney-Australia
World Orphan Drug Congress 2021
From 16 to 19 November 2021
At : Barcelona, Spain
Genomics in Health Implementation Forum (GHIF) meeting
From 17 to 18 November 2021
At : Online
Webinar: Pseudopubertas praecox and the tumor rupture
On 18 November 2021
At : Online
Webinar: Reinvigorating Family Health History in the Era of Genomics
On 19 November 2021
At : Online
International Conference On Rare Diseases and Paediatric Research
From 19 to 20 November 2021
At : Online
10th International Conference of the International Lymphoedema Framework
From 19 to 21 November 2021
At : Copenhagen, Denmark
Resource Webinar: Orphanet
On 26 November 2021
At : Online
Webinar: ERN Italia- points to consider for the ERN RDs Italian community
On 01 December 2021
At : Online
Marche des Maladies Rares
On 05 December 2021
At : Paris, France
Webinar: Capturing the patients’ voices on patient safety
On 15 December 2021
At : Online
Webinar: Congenital Brain Tumor: Diagnostic and Therapeutic Challenges
On 16 December 2021
At : Online
ERN GENTURIS 5-year anniversary conference
From 11 to 12 February 2022
At : Online
International Symposium for Researchers and Clinicians on Wiskott Aldrich Syndrome- WAS2022
On 19 March 2022
At : Munich, Germany
The Translational Science of Rare Diseases - From Rare to Care IV
From 31 March to 02 April 2022
At : Tutzing, Germany
20th International Vasculitis and ANCA Workshop
From 04 to 07 April 2022
At : Dublin, Ireland
International Primary Immunodeficiencies Congress – IPIC 5th Edition
From 28 to 30 April 2022
At : Vilamoura, Portugal
ECTS 2022: 49th edition of the European Calcified Tissues Society Congress
From 08 to 11 May 2022
At : Helsinki, Finland
World Congress on Rare Skin Diseases
From 08 to 10 June 2022
At : Paris, France
European Conference on Rare Diseases & Orphan Products- ECRD 2022
From 28 June to 02 July 2022
At : Online
Grants
Student Voice Prize
The Student Voice Prize is an annual, international essay competition that focuses on raising the profile of rare disease within the medical field, particularly with medical students, nurses and scientists who may never have considered working in rare disease.
The following categories are encourage to apply:
- Medical students
- Trainee nurses
- Undergraduate and masters students enrolled in biological and health sciences studies (pharmacy, biology, genetics, biomedical science, pharmacology, public health etc)
Applicants are invited to answer one essay question in 1,500 words or less.
The deadline to submit the essay is on 17th November 2021 by 12:00 pm GMT.
5th Data Partner call
EHDEN Consortium announces its 5th Open call targeted towards data custodians of Electronic Health Records, Claims, Hospital and Registry data across Europe, supporting the mapping of their data to the OMOP common data model to accelerate research and healthcare decision-making.
Data Partners can benefit from up to a maximum of € 100 000 funding that will be made available via a €17 million “Harmonisation Fund”.
The deadline for applications is 15 November 2021 by 17:00 CET.
EJP RD – Networking Support Scheme (NSS) Call
The EJP RD Networking Support Scheme (NSS) call is open.
The first aim is to encourage sharing of knowledge on rare diseases and rare cancers of health care professionals, researchers and patients. The second aim is to enable or increase the participation of usually underrepresented countries in Europe (see below) in new and existing research networks. The scheme will provide financial support to applicants to organize workshops or conferences. The focus of these workshops or conferences should be (the implications of) research results and innovative solutions in compliance with the vision set by the International Rare Diseases Research Consortium (IRDiRC) : "“enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention”.
In this Networking Support Scheme applicants can apply for a budget of a maximum of 30,000 € per event.
The collection date is December 2, 2021 at 14.00 (CET).
The most important change from June 3, 2021 is that applicants can choose between the format of a face-to-face meeting, an online meeting or a hybrid meeting if networking is secured. The Call documents have been changed acoordingly.
Please note: Are you planning to apply for the next rounds of the Networking Support Scheme? Please note that the documents have been updated in June 2021. Take care not to use earlier documents as they will not be eligible anymore.
Myotubular Trust: Call for Projects 2021
The Myotubular Trust (UK Registered Charity No: 1137177) was set up in 2006 to raise money for research to find a cure and / or treatment for any of the genetic forms of centronuclear and myotubular myopathy.
There are a number of genetically distinct forms of centronuclear and myotubular myopathy. The commonest is x-linked, usually called myotubular myopathy, affecting in the vast majority of cases, only boys. It is also usually the most severe, presenting in the new-born period and there are associated breathing and swallowing difficulties in addition to the general muscle weakness. The other forms are either dominant or recessive in inheritance, are usually, but not always, milder, and vary widely.
Myotubular Trust is holding a 2021 call for research grants. We will require completed applications by 1700 hours GMT Friday 29th October 2021. We anticipate making awards in April 2022.
We are looking to fund projects that will increase the clinical understanding of, and help find a cure and / or a treatment for any form of centronuclear and myotubular myopathy (congenital X-linked recessive; congenital autosomal recessive; autosomal dominant), focusing on research that would not generally be funded by public or industrial funding sources. This call will be open to international applications.
Applications may be made for:
- Project grants
We will consider applications from the Principal Investigator for projects of 2-3 years duration to be carried out by a post-Doctoral researcher, or PHD student
- A Myotubular Trust fellowship, non-clinical
The Fellowship scheme is designed to support early career scientists to help them to develop their independence. Applicants will have identified a host institution and will be undertaking a project of 3-4 years duration. This is not the same as a post doc position and should be designed and led by the fellowship applicant but with the support of the host lab.
In particular we would like to encourage the application of novel approaches and technologies to research into myotubular and centronuclear myopathy. We are interested in all aspects of translational research, including, but not limited to, interventional trials; studies that shed light on genotype/phenotype inter-relationships; studies on modifiers of disease progression and collaboration between different medical disciplines and / or different research institutions. We are also willing to consider applications which involve joint funding of new projects with other organisations.
Myotubular Trust’s Scientific Advisory Board (SAB) is chaired by Professor Francesco Muntoni of The Institute of Child Health, University College London. The SAB makes recommendations to the Myotubular Trust Trustees on which projects to fund, based on scientific assessment and peer review.
Courses and educational initiatives
Paediatric expert patients training workshops
As part of the European Joint Programme on Rare Diseases (EJPRD), TEDDY Network is organising the first paediatric expert patients training workshops in collaboration with EURORDIS and the Sant Joan de Déu Research Foundation.
The workshop aims at preparing young patients to actively participate in scientific research and play an important role in improving research and healthcare services for all patients by contributing with their own specific experience. It is addressed to patients with a chronic rare disease, aged from 12 to 18, interested in the themes of health, biomedical research, healthcare, and children rights.
The workshop will take place online from November 2021 to February 2022. Applications can be sent by 30 October 2021.
Preceptorship medical course
The preceptorship medical course- Optimising Care in MPS Disease will be held on 11-12 November 2021 at The Nowgen Centre, Manchester Royal Infirmary, United Kingdom.
The course will provide a better understanding of MPS and challenges in patient management that requires a multi-disciplinary approach and is intended for clinicians and nurses.
IRDiRC: Call for experts for Primary Care Task Force
The IRDiRC Diagnostics Scientific Committee (DSC), Interdisciplinary Scientific Committee (ISC), and Funders Constituent Committee (FCC) have set up a joint Task Force to identify challenges and opportunities in rare diseases research focusing on primary care.
IRDiRC is currently assembling a team of experts to populate this Task Force and is specifically looking for members with expertise/experience in one or more of the following areas:
- Primary care health provider with experience/research in rare disease
- Involvement in strategic planning for rare disease research
- Able to commit to monthly teleconferences, a yearly meeting, regular committee activities, and email correspondence
Applications are open until 29 October 2021.
Introduction to real world data
The European Health Data & Evidence Network (EHDEN) and the European Patients’ Forum (EPF) offer a free course to patient organisations on real world data. The course focuses on data protection and the vital role they can play in the healthcare ecosystem and health research.
The course is available upon registration through the EHDEN Academy.
TMex Winter School 2021
The Translational Medicine Explained (TMex) Winter School is a 5-day online workshop organized by the European Infrastructure For Translational Medicine (EATRIS) and is intended for PhD students in the second half of their PhD, early postdocs and other young scientists involved in biomedical research.
The course will take place on 8-12 November 2021.
Paediatric Surgery Courses
A new series of Paediatric Surgery Courses organized by the Radboud UMC – Amalia Children’s Hospital (Nijmegen, The Netherlands) will be held online in 2022.
The courses will take place on the following dates:
- Pediatric Colorectal Course 13-14 January 2022
- ECMO & CDH course 10-11 March 2022
ERN EpiCare e-learning modules
The ERN EpiCARE has developped new e-learning modules in collaboration with the ILAE Academy. The modules are dedicated towards professionals who wish to practice diagnosis of rare and complex epilepsies. The first online six modules are patient-centered cases.
Drug Repuposing for Rare Diseases workshops
This 3-part workshop is for academic researchers and research funders, policymakers and industry scientists interested in drug repurposing. It is jointly organised by Radboud UMC, EATRIS ERIC, Fondazione Telethon and French Foundation for Rare Diseases as part of the European Joint Programme for Rare Diseases.
Next session is on 28 October 2021.
EJP-RD and the Foundation for Rare Diseases : Online courses launched on "Diagnosing Rare Diseases - from the Clinic to Research"
The European Joint Programme on Rare Diseases has launched an online academic education course on rare diseases research topics. The development of the courses is coordinated by the Foundation for Rare Diseases, one of the EJP RD partners.
The first MOOC (Massive Open Online Course) “Diagnosing Rare Diseases: from the Clinic to Research and back” started on April 26th. This course aims to gain insight into patients’ experiences and discuss key issues relating to this topic.
It has been co-developed with representatives from ERN Ithaca (Prof Laurence Faivre, Dijon University Hospital), ERN Genturis (Dr Chrystelle Colas, Curie Institute) and Foundation for Rare Diseases (Roseline Favresse).
This course is designed for individuals with a keen interest in diagnostic research and rare diseases. While primarily designed for medical students and PhD/post-doc students in biomedical sciences, it will also be of interest to Patients Advocacy Organisations’ representatives, Healthcare professionals or paramedics who want to further their knowledge of rare diseases diagnosis.
This course will cover the following topics :
- The diagnostic process and the types of genetic tests available for rare diseases
- The differences in rare genetic diseases patient pathways
- Technological advances for diagnostic research
- The role of collaborative studies and data sharing in rare diseases diagnosis
- The impact of having or lacking a diagnosis on patients’ lives
- The role and place of physiopathology approaches as well as social sciences research in the context of rare diseases diagnosis.
The 8th Rare Diseases Summer School
Because of the pandemic covid-19, the 8th Rare Diseases Summer School has been postponed and will be held from 13 July to 15 July 2022 in Kartause Ittingen. The rare diseases summer school is part of the curriculum of the PhD programs. It aims to provide an environment for informal exchange between PhD students and experts in the field of rare disease research. The application procedure will open in 2022.
International Neurofibromatose Educational Resources: Masterclasses in NF
INFER (International NF Educational Resources) is a series of online educational lectures for medical professionals by leading neurofibromatosis experts.
The next lectures will be held on:
- 25th October 2021, 6pm CET:
- NF1 Malignant Peripheral Nerve Sheath Tumors
- Chaired by Rosalie Ferner, Neurologist at Guy’s and St Thomas’ NHS Foundation Trust (London, United Kingdom) and Viktor-Felix Mautner, Head of NF Outpatient Department
- 9th November 2021, 4pm CET
- NF1 Orthopedic Manifestations
- Chaired by Eric Legius, Head of the Clinical Genetics Department of the University Hospital Leuven (Belgium) and Christophe Glorion, Department of Paediatric Orthopedic and Traumatologic Surgery at Hopital Necker-Enfants Malades (Paris, France)
- 10th December 2021, 4pm CET:
- NF1 Associated Glioma in Children - the Optic Pathway and Beyond
- Chaired by Amedeo Azizi, Head of the Paediatric Neurofibromatosis Program and Paediatric Neuro-Oncology Program (Vienna, Austria)
ERN-Skin: Series of webinars
The ERN-Skin launches a series of scientific webinars on rare skin diseases. Each ERN-Skin thematic group organizes a one hour session, with 30 minutes presentation and 30 minutes discussion.
The next webinars will be held on:
- 26th October 2021, 1.30pm - 2.30pm CET :
- Cytokines of the IL-1 family in severe cutaneous adverse drug reactions- Emmanuel Contassot
- Chaired by Saskia Oro
- 30th November 2021, 1pm - 2pm CET :
- Acquired immunological low prevalence and complex adult diseases of the skin
Job opportunities
Orphanet Nomenclature & rare diseases and X-eHealth Project Manager
Please send your CV and cover letter to jobs.orphanet@inserm.
Orphanet Rare disease clinical trials and orphan medicinal products data curator
Please send your CV and cover letter to Charlotte Gueydan at jobs.orphanet@inserm.fr
Orphanet database curator
Please send your CV and cover letter with the reference US14-2021-01 to:
Charlotte Gueydan
Tel : +33 (0)1 56 53 81 41
jobs.orphanet@inserm.fr
ERN ITHACA: Instructional Designer
You will be responsible for the implementation and developpement of an e-learning project on clinical genetics. This project is based on the Moodle platform, and it is called APOGeE Project (A Practical Online Genetics e-Education), developed in the framework of the European Reference Network (ERN) ITHACA.
Please send your application (CV + cover letter) by e-mail to anne.hugon@aphp.fr and marie.vincke@aphp.fr