ERN Webinar: "Sentinel node biopsy for penile cancer: why, when, how, and new developments"
On 20 January 2022
At : Online
Events
ERN Webinar: "Diagnostic and Management Pathway for Venous Malformations"
On 21 January 2022
At : Online
Introducing the Innovative Health Initiative: Europe’s new partnership for health
On 27 January 2022
At : Online
ERN Webinar: "Robotics for the Surgical Treatment of Hirschsprung's Disease"
On 27 January 2022
At : Online
GA4GH 101 Webinar
On 28 January 2022
At : Online
The Findacure International Rare Disease Showcase
From 02 to 04 February 2022
At : Online
EURORDIS Black Pearl Awards
On 09 February 2022
At : Online
ERN GENTURIS 5-year anniversary conference
From 11 to 12 February 2022
At : Online
Global Disability Summit: 2022
From 16 to 18 February 2022
At : Online
Third International Summit on Human Genome Editing
From 08 to 10 March 2022
At : London, United Kingdom
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
13th International Congress on Autoimmunity
From 11 to 14 June 2022
At : Athens, Greece
The European Human Genetics Conference 2022
From 12 to 15 June 2022
At : Vienna, Austria
7th Annual TREAT-NMD International Conference
From 17 to 18 June 2022
At : Vancouver, Canada
8th Congress of the European Academy of Neurology – Europe 2022
From 26 to 29 June 2022
At : Vienna, Austria
European Conference on Rare Diseases & Orphan Products- ECRD 2022
From 28 June to 02 July 2022
At : Online
11th International Prader-Willi Syndrome Organisation Conference-IPWSO
From 07 to 11 July 2022
At : Limerick, Ireland
Grants
Global Gene RARE Meet-Ups
Global Genes is now accepting grant applications to support a series of US-based RARE Meet-Ups to take place between April and November 2022. These events should provide critical education and much-needed in-person collaboration for rare disease patients, caregivers, and advocates at the local level to help equip participants to better serve their rare communities. Grant applications will be accepted through the Global Genes Grant Portal until Friday, February 4, 2022.
EJP RD Joint Transnational Call 2022
The European Joint Programme on Rare Diseases (EJP RD) has opened its Joint Transnational Call 2022.
The topic of this call is the "Development of new analytic tools and pathways to accelerate diagnosis and facilitate diagnostic monitoring of rare diseases". A number of national and regional funding organisations will participate in the EJP RD Joint Transnational Call 2022 and will fund multilateral research projects on rare diseases under the EJP-COFUND action.
The aim of the call is to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with expected impact to use the results in the future for benefit of patients.
The projects shall involve a group of rare diseases or a single rare disease following the European definition, focusing on the European Community, EC associated states and Canada.
The deadline to submit the pre-proposal is 16 February 2022.
Fondation Maladies Rares Call 2021
The French Foundation for Rare Diseases (Fondation Maladies Rares) has launched its 2021 call entitled ‘Identifying therapeutic molecules for rare diseases’. The call will support one of the two following steps of drug discovery:
- Development of an automated assay and compound screening
- ‘Hit to Lead’ campaign to develop lead candidates
The deadline for the submission of the proposals is 20 January 2022.
European Commission Horizon Europe Framework Programme (HORIZON)
The European Commission is funding a call on the development of new effective therapies for rare diseases with the aim of “Tackling diseases diseases and reducing disease burden.” The topic will support proposals covering several different stages in the continuum of the innovation pathway ( translational, preclinical, clinical research, validation in the clinical and/or real-world setting etc.), as relevant.
To that end, proposals under this topic should aim for delivering results that are directed, tailored towards and contributing to some of the following expected outcomes:
- Researchers and developers make the best use of the state-of-the-art knowledge and resources for a fast and effective development of new therapies for rare diseases.
- Researchers and developers increase the development success rate of therapies for rare diseases by employing robust preclinical models, methods, technologies, validated biomarkers, reliable patient reported outcomes and/or innovative clinical trials designs.
- Developers and regulators move faster towards market approval of new therapies for rare diseases (with currently no approved treatment option) due to an increased number of interventions successfully tested in late stages of clinical development.
- Healthcare professionals and people living with a rare disease get access to new therapeutic interventions and/or orphan medicinal products.
The deadline for this call is a two-stage model, including 1 February 2022 and 06 September 2022.
The EJPRD is offering services to help applicants for this call, notably in the fields of Data FAIRification, Clinical Studies Support Office and Mentoring.
Second wave of the EU4Health calls for project grants
The second wave of the EU4Health calls for project grants under the 2021 Work Programme has been published. The 13 topics range from health data, healthy lifestyles, infections, mental health, cancer, genomics and more.
Applications are acceptable either by a sole applicant or by a consortium. In case of a consortium, the consortium must be a consortium of at least 3 applicants, and it must comply with the condition of minimum 3 entities from 3 different eligible countries.
Eligible countries are EU Member States or eligible non-EU countries. Eligible non-EU countries are EEA countries, and countries associated to the EU4Health Programme.
Applications are welcome until 25 January 2022.
Courses and educational initiatives
EJP RD Funded ERN Training Workshops
The EJP-RD is holding workshops aiming at training ERN researchers and clinicians in relevant innovative themes with a cross-ERN added value. These 2-days ERN workshops are open to interested persons (clinicians/scientists) affiliated to ERNs or Affiliated Partner Institutions.
Training themes may include innovative research methodologies, diagnostic research methodologies, interdisciplinary treatment approaches, such as gene therapy and transplantation, etc. Topics have to be proposed by the ERNs or by investigators belonging to EJP RD beneficiary institutions. Three workshops are already planned in 2022 and registrations are now open.
6th edition of the "Clinical Update on Rare Adult Solid Cancers" online course
The “ESO-ESMO-RCE Clinical Update on Rare Adult Solid Cancers”, supported by EURACAN, is an educational effort held on an annual basis and conceived to strengthen the education of medical professionals willing to devote their career to rare cancers. The course will be held online and is divided in two steps. The pre-recorded sessions were held on 16 December 2021, while live sessions with an introductory round table on rare cancers in general, clinical case presentations and Q&A discussions with moderators and speakers will be held on 29 and 30 January 2022.
Registration to the full course is free but mandatory.
Radboudumc Adrenal Masterclass
Radboud UMC is organizing its fourth international Radboudumc Adrenal Masterclass to presents the state-of-the-art lectures and workshops on clinical and pathophysiological aspects of adrenal diseases. The masterclass is aimed at adult and paediatric endocrinologists, clinical fellows, internists and clinical chemists who are involved in the management of patients with adrenal disease.
The masterclass will take place on January 24-28, 2022 in Amsterdam, the Netherlands. It will cover major adrenal disorders and will include lectures as well as interactive sessions on patient cases with challenging diagnostic and therapeutic issues.
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.
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.
EJP-RD and the Foundation for Rare Diseases : "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 EJP RD's 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 lecture will be held on:
- 28th January 2022, 6pm CET:
- NF1 Pediatric Management
- Chaired by Rianne Oostenbrink, Erasmus University Medical Center (Rotterdam, Netherlands)
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:
- 25th January 2022, 1pm - 2pm CET :
- Cutaneous diseases related to DNA repair disorders
- 22th February 2022, 1pm - 2pm CET :
- Ectodermal Dysplasias including Incontinentia Pigmenti and p63-associated disorders
- 29th March 2022, 1pm - 2pm CET :
- Autoimmune Bullous diseases
- Autoimmune Bullous diseases
Job opportunities
Scientific Project Manager "Clinical Signs in Rare Diseases"
Please send your CV and motivation letter to:
Ana Rath
jobs.orphanet@inserm.fr
Tel : +33 (0)1 56 53 81 41
Project Manager "Nomenclature and Terminology Alignments"
Please send your CV and cover letter to:
Houda Ali
Tel : +33 (0)1 56 53 81 41
jobs.orphanet@inserm.fr
Project Manager "Nomenclature and Scientific Coordination of National Hubs"
Please send your CV and cover letter to:
Houda Ali
Tel : +33 (0)1 56 53 81 41
jobs.orphanet@inserm.fr
Orphanet Nomenclature & rare diseases and X-eHealth Project Manager
Please send your CV and cover letter to jobs.orphanet@inserm.fr
Project Manager "Diagnostic Tests and Medical Laboratories"
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
PhD Opportunity in Biomedical Ethics
The Institute for Biomedical Ethics at the University of Basel (IBMB), Switzerland (http://ibmb.unibas.ch/) is currently looking for dynamic and independent graduate students (Master’s degree) or medical doctors who are interested in carrying out their PhD work in biomedical ethics. The project for which we have funding focus on ethical issues related to:
“ELSI issues of rare diseases: Evaluating Parent Perceptions, Economic Burden, and the Impact of Online Coaching Interventions for Parents of Children Diagnosed with the 22q11 Deletion Syndrome”.
Applications: Applications must be submitted in English and should include in a single PDF file: (1) A detailed CV, including an overview of study results (grades), the title of your master thesis, contact information of (at least) two (academic) referees, and a PDF-file of the master thesis; (2) A motivation letter (maximum two pages, double-spaced, font 12), specifying your interests in the topic and PhD at Basel.
Applications for the project should be sent via email directly to Dr. Eva de Clercq (eva.declercq@unibas.ch) and Prof. B. Elger (b.elger@unibas.ch) with email subject “Eranet-funded project” by January 31th 2022.
Media
RARE Cast: The global genes podcast
RARECast is a Global Genes podcast hosted by award-winning journalist Daniel Levine. It focuses on the intersection of rare disease with business, science, and policy. In the new episode, entitled “Turning Words into Action”, Eve Dryer, VP Patient Advocacy for Travere Therapeutics, joins the RARE Cast to discuss equity, diversity, and inclusion in rare disease, and initiatives to address health disparities that result from racial and socioeconomic drivers.