Past EJP RD Events

Past EJP RD Events

17

Mai

2024

Key Solutions to Model Longitudinal Natural History  Data Application in Ataxia Disease

Description will be updated soon. More information on intermediate courses and Clinical Trials Methodology Watch all the intermediate…

  • 14:00 - 14:00
  • Youtube

26

Avr

2024

Interim Analysis, Adaptations and Master Protocols

Description will be updated soon. More information on intermediate courses and Clinical Trials Methodology Watch all the intermediate…

  • 14:00 - 14:00
  • Youtube

11

Avr

2024

1st PReS ACADEMY COURSE on Non-Infectious Childhood Chronic Uveitis

PReS endorsed the 1st PReS ACADEMY COURSE on Non-Infectious Childhood Chronic Uveitis The educational objective of this course,…

  • 12:00 - 16:00 (12 avril 2024)
  • Firenze, Italy

05

Avr

2024

Early Phase Trial Designs in Rare Diseases

The development of novel therapies for rare diseases involves many challenges due to small and heterogeneous patient populations,…

  • 14:00 - 14:00
  • Youtube

22

Mar

2024

Bayesian Thinking and Methods

In the last two decades, the Bayesian approach has become increasingly popular in virtually all application areas. The…

  • 10:00 - 10:00
  • Youtube

13

Mar

2024

Training on strategies to foster solutions of undiagnosed rare disease cases

13-15 March 2024 REGISTRATION IS NOW OPEN here ONLINE REGISTRATION until 14 January 2024. Registration will remain open…

  • 09:30 - 16:00 (15 mars 2024)
  • Rome, Italy

08

Mar

2024

Statistical Methodology for Very Small (and Very Large) Studies

Using data from various clinical trials and other studies, methodology and statistical concepts are presented that remain solid…

  • 10:00 - 10:00
  • Youtube

26

Jan

2024

Training Webinar: Real-World data, Machine learning and Deep analytics in rare diseases: Regulatory grade data collection for marketing authorization submissions - what is buzz, what is realistic?

GENERAL INFORMATION Marc Van Dijk (UCB) and Luis Pinheiro (EMA) will present views of industry and regulators on…

  • 14:00 - 16:00
  • Online

13

Déc

2023

Managing RD biological sample data in Biobanks: lessons learned from the EJP RD training workshops

General information This training workshop is the conclusive event of a series of capacity building programs on biobanking…

  • 14:00 - 14:00 (14 décembre 2023)
  • Milan, Italy

20

Nov

2023

ERICA & EJP RD Joint Conference

GENERAL INFORMATION A pre-conference dinner on 20th November is to be scheduled. PARTICIPANTS The target audience of this…

  • 18:00 - 17:30 (21 novembre 2023)
  • Amsterdam UMC, Amsterdam

26

Oct

2023

Training for patient representatives and advocates on leadership and communication skills

GENERAL INFORMATION26th – 27th October 2023.All applicants will receive an email on the status of their application (if…

  • 09:00 - 18:00 (27 octobre 2023)
  • Gdańsk, Poland

18

Oct

2023

Quality assurance, variant interpretation and data management in the NGS diagnostics era

GENERAL INFORMATION The 5th International Training Course on “Quality assurance, variant interpretation and data management in the NGS…

  • 11:00 - 13:30 (20 octobre 2023)
  • Warsaw, Poland

13

Oct

2023

EJP RD - ERN Workshop: Advances in regenerative medicine and tissue engineering for rare musculo-skeletal diseases

GENERAL INFORMATION Concept  Regenerative medicine and tissue engineering provide strategies to regenerate untreatable diseased organs by either replacing/mimicking…

  • 09:00 - 13:00 (14 octobre 2023)
  • Rome, Italy

12

Oct

2023

EJP RD - ERN Workshop: CDH1 related hereditary diffuse type gastric cancer

GENERAL INFORMATION Concept  The hereditary tumour syndrome that correlates with a carriership of a pathogenic CDH1 variant is…

  • 09:00 - 17:00 (13 octobre 2023)
  • Radboud University Medical Center Nijmegen, Netherlands

29

Sep

2023

EJP RD Online Training: Item response models for analysing assessments in rare diseases

PRESENTATION AVAILABLE HERE. GENERAL INFORMATION Clinical outcome assessments (COA), incorporating multiple individual items (i.e., tasks, tests, questions and…

  • 16:00 - 18:30
  • Online

25

Sep

2023

International Summer School on Rare Disease Registries and FAIRification of data

REGISTRATION IS NOW OPEN HERE  until 5 July 2023. This course is foreseen as a face-to-face training at…

  • 09:30 - 16:00 (29 septembre 2023)
  • Rome, Italy

20

Sep

2023

EJP RD Variant Prioritization and Enrichment for Rare Diseases Workshop

GENERAL INFORMATION Participants will learn the fundamentals of Whole Exome Sequencing (WES) including terminology, pre and post-alignment processing,…

  • 09:00 - 17:30 (22 septembre 2023)
  • Istanbul, Turkey

04

Sep

2023

EJP RD - ERN Workshop: Urogenital Tissue Engineering from bedside to bench and back

GENERAL INFORMATION Regenerative Medicine aims to address unmet medical needs by combining our body’s own repair abilities with…

  • 09:00 - 16:30 (5 septembre 2023)
  • Regenerative Medicine Center Utrecht, The Netherlands

06

Juil

2023

Brain Metabolism Workshop: From Rare Diseases to Common Biological Pathways

GENERAL INFORMATION Brain metabolism, which has been largely disregarded in the traditional approach to investigating and treating neurological…

  • 08:30 - 17:30 (7 juillet 2023)
  • Barcelona, Spain (Hybrid)

30

Juin

2023

EJP RD Training: Replicated N-of-1 Randomized Controlled Trials for Rare Diseases

GENERAL INFORMATION An N-of-1 trial is defined as a prospective, multiple crossover trial in a single patient. If…

  • 16:00 - 18:30
  • Online

29

Juin

2023

Challenges and barriers for gene therapies in rare neurological disorders: preparing the next generation of clinicians and researchers

GENERAL INFORMATION ConceptAdvances in gene therapies are completely changing the possibilities we used to have to deal with…

  • 13:00 - 17:00 (30 juin 2023)
  • Barcelona, Spain

28

Juin

2023

EJP RD - RD-Connect Genome-Phenome Analysis Platform (GPAP) Webinar

https://www.youtube.com/watch?v=-do0uF-giIg GENERAL INFORMATION Organiser – Centre Nacional d’Anàlisi Genòmica (CNAG-CRG, Barcelona, Spain) This is an introductory webinar to…

  • 15:00 - 16:00
  • Online

21

Juin

2023

Paediatric Expert Patients Training Workshop

Are you an adolescent aged from 12 to 18 years old with an interest in health, biomedical research,…

  • 09:00 - 17:00 (23 juin 2023)
  • Barcelona, Spain

12

Juin

2023

ERN biological samples in Rare Diseases research: Added value and usefulness

General informationThe Rare disease (RD) field benefits from national and international multidisciplinary collaborations to face the challenges in…

  • 14:00 - 12:00 (14 juin 2023)
  • Madrid, Spain

08

Juin

2023

EJP RD - ERN Workshop: The Blood-Brain Barrier: current research and novel therapeutic crossing approaches

GENERAL INFORMATION ConceptThe normal functioning of the brain and the central nervous system is protected by the blood-brain…

  • 14:30 - 13:00 (9 juin 2023)
  • Padua, Italy

04

Juin

2023

EJP RD - ERN Workshop on Fetal and Postnatal multidisciplinary management in RD (Myelomeningocele and Lower urinary tract obstruction, LUTO)

ORGANIZERS Giovanni Mosiello, MD, FEAPU, FEBPS, Department of Urology: Neuro- Urology, Bambino Gesù Pediatric and Research Hospital, Rome…

  • 18:00 - 13:00 (6 juin 2023)
  • Krakow, Poland

01

Juin

2023

Kleefstra Syndrome Scientific Conference 2023

The Kleefstra Syndrome Scientific Conference 2023: “Moving towards the uptake and use of Artificial Intelligence (AI) in research and…

  • 09:30 - 16:00 (2 juin 2023)
  • Hybrid (Online and Ljubljana, Slovenia)

25

Mai

2023

EJP RD - ERN Workshop: Young Investigator Workshop on Basic Science and Translational Immunology in PSC

GENERAL INFORMATION ConceptIn order to promote the engagement of young investigators into Primary Sclerosing Cholangitis (PSC) research and…

  • 09:00 - 17:00 (26 mai 2023)
  • Hamburg, Germany

22

Mai

2023

EJP RD ERN Workshop: Desmoid tumors (DTs) in patients with Familial Adenomatous Polyposis (FAP): an interdisciplinary approach

General Information Concept and aimDT is defined as a rare benign monoclonal fibroblastic proliferation that arises in soft…

  • 10:30 - 17:00 (23 mai 2023)
  • Milan, Italy

18

Mai

2023

EJP RD - ERN Workshop: Genetics and Precision Medicine in Rare Diseases

GENERAL INFORMATION ConceptPrecision medicine is an emerging approach to clinical research and patient care based on patient-individual medical…

  • 14:30 - 15:30 (19 mai 2023)
  • Lisbon, Portugal

08

Mai

2023

EJP RD - ERN Workshop: RARE TOGETHER

GENERAL INFORMATION Psychosocial needs play an important role in rare diseases. There are common burdensome and stressful events…

  • 10:00 - 16:00 (9 mai 2023)
  • Nijmegen, Netherlands

27

Avr

2023

EJP RD - ERN Workshop: Psychological, molecular and administrative aspects of Hereditary breast and ovarian cancer genetic population screening (HBOC GPS)

GENERAL INFORMATION ConceptAfter more than 20 years of Hereditary breast and ovarian cancer (HBOC) research in Latvia it…

  • 09:00 - 13:30 (28 avril 2023)
  • Riga, Latvia

03

Avr

2023

Training on strategies to foster solutions of undiagnosed rare disease cases

Registration is now open here for the reserve list only until 2 March 2023.An e-mail will be sent by 3…

  • 09:30 - 16:30 (5 avril 2023)
  • Rome, Italy

27

Mar

2023

EJP RD - ERN Workshop: New Therapeutical Approaches for Inherited Retinal Dystrophies

GENERAL INFORMATION ConceptInherited retinal dystrophies (IRDs) constitute a heterogeneous group of retinal diseases that cause the progressive loss…

  • 09:30 - 17:00 (28 mars 2023)
  • Valencia, Spain

24

Mar

2023

Statistical and operational challenges with master protocols

https://www.youtube.com/watch?v=0nF8a2RPeKA General Information During this webinar, we will explain what is meant by master protocols comparing basket, umbrella…

  • 16:00 - 18:30
  • Online

23

Mar

2023

EJP RD - ERN Workshop: Epidermolysis bullosa: from genes to translation into therapies

GENERAL INFORMATION Concept: Epidermolysis bullosa (EB) is a group of genetic disorders that manifest with fragility of the…

  • 13:00 - 16:00 (24 mars 2023)
  • Freiburg, Germany

15

Mar

2023

RE(ACT) Congress and IRDiRC Conference 2023

EJP RD is pleased to announce that the next edition of the 7th RE(ACT) Congress and 5th IRDiRC Conference will…

  • 13:30 - 12:30 (18 mars 2023)
  • Berlin, Germany

28

Fév

2023

ERICA WP4 Webinar: Essential requirements before thinking about a clinical trial

The European Rare Disease Research Coordination and Support Action consortium (ERICA) is organising the WP4 Clinical Trial Support webinar “Essential…

  • 12:00 - 13:00
  • Online

15

Déc

2022

XV Foresight Training Course

Fondazione Gianni Benzi Onlus is jointly organising with Università degli Studi di Bari Aldo Moro the XV Foresight…

  • 17:00 - 16:10 (16 décembre 2022)
  • Bari, Italy

01

Déc

2022

International Conference on Clinical Research Networks for Rare Diseases

General information Dates Registration Contact Agenda Biosketches General information The International Rare Diseases Research Consortium (IRDiRC) and the…

  • 13:45 - 14:00 (2 décembre 2022)
  • Online

28

Nov

2022

EJP RD Training: Biobanking in rare diseases: the Poland experience

GENERAL INFORMATION Through the last decade access to modern healthcare has improved significantly.  The lack of scientific knowledge…

  • 14:00 - 17:45 (29 novembre 2022)
  • Online

18

Nov

2022

The Statistical Evaluation of Surrogate Endpoints in Clinical Trials

https://www.youtube.com/watch?v=G0qers1DACk General information Both humanitarian and commercial considerations have spurred intensive search for methods to reduce the time…

  • 16:00 - 18:30
  • Online

10

Nov

2022

Training for patient representatives and advocates on leadership and communication skills

IMPORTANT INFORMATIONThe training course will be held in an ONLINE FORMAT, given the uncertainties linked to the evolution…

  • 09:30 - 17:30 (11 novembre 2022)
  • Online

05

Nov

2022

Rhabdoid tumors in clinic and research: From basic biology to the patient bed

GENERAL INFORMATION ConceptIn this workshop we would like to give a state-of the-art overview on clinical and molecular…

  • 07:30 - 15:45
  • Charenton-le-Pont, France

19

Oct

2022

Quality assurance, variant interpretation and data management in the NGS diagnostics era

GENERAL INFORMATION Due to the force majeure situation and in order to ensure the correct progress of the planned tasks of EJP…

  • 10:00 - 14:00 (21 octobre 2022)
  • ONLINE

13

Oct

2022

Rare Conversations – Rare Disease Policies: Pioneering the way towards a resilient ecosystem

EJP RD is glad to partner with Alexion’s annual Rare Conversations conference, “Rare Disease Policies: Pioneering the way…

  • 14:00 - 18:00
  • Brussels, Belgium

29

Sep

2022

Comprehensive gene profiling, molecular tumor board (mtb) and artificial intelligence in the diagnosis and treatment of patients with rare adult cancers

All times are in EEST (Eastern European Summer Time) GENERAL INFORMATION Increased knowledge of cancer molecular biology and…

  • 09:00 - 16:00 (30 septembre 2022)
  • Turku, Finland

26

Sep

2022

International Summer School on Rare Disease Registries and FAIRification of data

REGISTRATION IS NOW OPEN HERE until the 29th of May 2022. IMPORTANT INFORMATIONThe training course will be held in an ONLINE…

  • 13:30 - 17:10 (30 septembre 2022)
  • Online

26

Août

2022

Networking Support Scheme (NSS) Event: Argonautes Syndrome Science & Family Conference

A funded networking event, the first Argonaute Syndrome Science & Family conference, is being organized to bring together…

  • 18:00 - 13:00 (28 août 2022)
  • Online and Regensburg, Germany

04

Juil

2022

Modelling & Simulation: Research Methodologies for Small Populations in Rare Diseases

GENERAL INFORMATION ConceptThe study of rare and complex diseases affects the sample size of the study population.Undoubtedly the…

  • 09:00 - 18:00 (5 juillet 2022)
  • Bari, Italy

30

Juin

2022

EJP RD - ERICA Workshop: Ethics and regulatory considerations for ERN Data Access Committee members

We are happy to invite you to take part in a workshop addressing “Ethics and regulatory considerations for ERN…

  • 10:00 - 12:30
  • Online

27

Juin

2022

11th European Conference on Rare Diseases and Orphan Products (ECRD) 2022

The 11th European Conference on Rare Diseases and Orphan Products (ECRD) 2022 is being organized by EURORDIS and co-organized by Orphanet, with…

  • 14:00 - 18:00 (1 juillet 2022)
  • Online

20

Juin

2022

Networking Support Scheme (NSS) event: European meeting on Phelan-McDermid syndrome

A funded networking event “European meeting on Phelan-McDermid syndrome” is being organised to discuss the guideline recommendations and to…

  • 13:00 - 13:00 (22 juin 2022)
  • Groningen, Netherlands

17

Juin

2022

Networking Support Scheme (NSS) event: 3rd International Symposium on Wiskott Aldrich Syndrome (WAS2022)

A funded networking event “3rd International Symposium for Researchers and Clinicians on Wiskott Aldrich Syndrome (WAS2022)” is being…

  • 09:00 - 18:00
  • Munich, Germany

17

Juin

2022

Networking Support Scheme (NSS) event: 2nd International Congress on Biliary Atresia and Related Diseases (BARD)

A funded networking event “2nd International Congress on Biliary Atresia and Related Diseases (BARD)” is being organised to…

  • 09:00 - 17:00 (18 juin 2022)
  • Bruges, Belgium

14

Juin

2022

Genetic biobanks for Rare Disease Research

GENERAL INFORMATION Rare disease (RD) is one area where national and international multidisciplinary collaborations are valuable to overcome…

  • 09:00 - 17:00 (15 juin 2022)
  • Online

14

Juin

2022

EJP RD ERN Workshop: Functional exploration of genetic variants in cardiac diseases

Registration has been extended until 20 May  2022 -12hCEST GENERAL INFORMATION ConceptCardiomyopathies and channelopathies are severe and misunderstood…

  • 09:00 - 17:00 (15 juin 2022)
  • Lyon, France

10

Juin

2022

Ectodermal dysplasias: Training course and update

GENERAL INFORMATION ConceptEctodermal dysplasias (ED) are rare and orphan genetic conditions affecting the development and/or homeostasis of two…

  • 09:30 - 18:15
  • Paris, France

09

Juin

2022

EJP RD ERN Workshop: Translational research on bone impairment in rare diseases

GENERAL INFORMATION ConceptBone impairment in rare diseases can affect many patients. Indeed, this concerns a vast number of…

  • 10:00 - 12:35 (10 juin 2022)
  • Faculty of Medicine of Lyon, France

31

Mai

2022

ProDGNE Meeting 2022

The ProDGNE consortium is organising the ProDGNE Meeting 2022, a multi-stakeholder opportunity to meet in person, discuss impactful research in GNE Myopathy…

  • 09:30 - 18:30
  • Sala Ágora, NOVA School of Science and Technology, FCT NOVA Caparica, Portugal

30

Mai

2022

From high throughput sequencing to diagnosis in immune mediated disorders ESID/ERN-RITA Workshop

GENERAL INFORMATION ConceptInborn errors of immunity (IEI) manifest as increased susceptibility to severe and/or recurrent infectious diseases, autoimmune…

  • 08:00 - 16:00 (31 mai 2022)
  • Paris, France

27

Mai

2022

Regional Cooperation: Conference on new concepts and approaches in lymphoma

A funded networking event “Regional Cooperation: Conference on new concepts and approaches in lymphoma” is being organised in…

  • 10:00 - 14:15 (29 mai 2022)
  • Belgrade, Serbia

27

Mai

2022

1st Workshop on Familial Adult Myoclonic Epilepsy (FAME)

Familial Adult Myoclonic Epilepsy (FAME) is a rare genetic condition, characterized by the occurrence of cortical tremor, myoclonus,…

  • 09:00 - 13:30 (28 mai 2022)
  • Naples, Italy

06

Mai

2022

Composite endpoints including patient relevant endpoints (Quality of Life)

https://www.youtube.com/watch?v=VkVaaCRClgs GENERAL INFORMATION When assessing the efficacy of a treatment in any clinical trial, it is recommended by…

  • 16:00 - 18:30
  • Online

04

Mai

2022

Endocrine cancer: a challenge in adults and children

GENERAL INFORMATION ConceptThe term endocrine cancer involves, among others, thyroid carcinoma, adrenocortical carcinoma, malignant pheochromocytomas and paragangliomas, and…

  • 14:00 - 18:15
  • Maria Sklodowska-Curie National Research Institute of Oncology Gliwice, Poland

29

Avr

2022

Networking Support Scheme (NSS) event: TREAT AIE European Conference on Autoimmune Encephalitis

A funded networking event “Treat AIE: First European networking conference to provide guidelines and improve treatment of Autoimmune…

  • 14:00 - 13:00 (30 avril 2022)
  • Hybrid (Online and Florence, Italy)

27

Avr

2022

European Forum on Visceral Myopathy 2022

A funded networking event “European Forum on Visceral Myopathy 2022” is being organised in Camogli, Italy.This event has…

  • 20:00 - 12:45 (29 avril 2022)
  • Camogli, Italy

11

Avr

2022

Training on strategies to foster solutions of undiagnosed rare disease cases

11– 13 April 2022. This course is online with a web-conferencing format. REGISTRATION IS NOW CLOSED. An e-mail…

  • 09:45 - 16:45 (13 avril 2022)
  • Online

02

Avr

2022

Networking Support Scheme (NSS) event: International Vasculitis Patient Conference 2022

A funded networking event “International Vasculitis Patient Conference” is being organised as a satellite hybrid event to the 20th International ANCA Vasculitis Workshop…

  • 14:00 - 17:45 (4 avril 2022)
  • Dublin, Ireland (and online)

31

Mar

2022

Trans-ERN Working Group for Spina Bifida (Spinal Dysraphism): Workshop for future research on innovative diagnostics and interdisciplinary treatment

GENERAL INFORMATION Spinal Dysraphism (Spina Bifida) is a congenital malformation that virtually involves all systems in the human…

  • 08:15 - 13:10 (1 avril 2022)
  • Centre Hospitalier Universitaire de Rennes (2 Rue Henri le Guilloux, 35033 Rennes, FRANCE)

04

Mar

2022

Contemporary outcome measures in neuromuscular diseases

GENERAL INFORMATION ConceptImproving clinical outcomes remains the gold standard in advancing healthcare. The only way to successfully manage…

  • 11:30 - 17:35 (5 mars 2022)
  • Hotel Novotel Nice Centre Vieux-Nice, Nice, France

24

Fév

2022

Networking event – The anti-IgLON5 disease: Challenges in diagnosis, treatment and pathogenesis of the disease

An EJP RD funded networking event on the rare neurological disease caused by anti-IgLON5 antibodies, discovered in 2014…

  • 09:00 - 12:40 (25 février 2022)
  • Esteve Auditorium of the Esther Koplowitz Cente

03

Fév

2022

Networking Support Scheme (NSS) event on vascular liver diseases and associated complications

A funded networking event on vascular liver diseases and associated complications is being organised to give an update on current clinical…

  • 12:00 - 15:15 (4 février 2022)
  • Hybrid (Online and Medical University Vienna, Vienna, Austria)

16

Déc

2021

Information webinar on Joint Transnational Call 2022

Following the successful implementation of three Joint Transnational Calls since 2019, EJP RD is glad to announce the upcoming…

  • 14:00 - 15:30
  • Online

15

Déc

2021

Resource Webinar: INFRAFRONTIER - Bis

Speaker: Montse Gustems Date: 15th December 2021 Start time: 15:00 CET End time: 16:00 CET Location: Online Registration…

  • 15:00 - 16:00
  • Online

15

Déc

2021

Anonymisation and pseudonymisation of rare disease patients⁠: Legal and technical aspects

Topic: Anonymisation and pseudonymisation of rare disease patients: legal and technical aspects Date and Time: December 15th, 2021 from 15.00 – 16.00…

  • 15:00 - 16:00
  • Online

14

Déc

2021

EJP RD TRAINING WEBINAR: Does Randomization matter in RD clinical trials?

https://www.youtube.com/watch?v=7rmrN2Cs6C4 General information Rare Diseases (RD) is an area where national and international multidisciplinary collaborations are valuable to…

  • 16:00 - 18:30
  • Online

09

Déc

2021

EJP RD and ERICA meeting on Domain specific Common Data Elements (DCDEs) Curation

EJP RD is co-organising a meeting, along with the European Rare Disease Research Coordination and Support Action consortium (ERICA) and…

  • 16:00 - 17:00
  • Online

26

Nov

2021

First paediatric expert patients training workshop

DEADLINE EXTENDED: 5 NOVEMBER 2021 Are you an adolescent aged from 12 to 18 interested in the themes…

  • 15:00 - 17:30
  • Online

25

Nov

2021

Resource Webinar: Orphanet

Speaker: TBD  Date: 25th November   Registration link to receive connection details Platform Summary: Orphanet is a unique resource, gathering and improving knowledge on…

  • 15:00 - 16:00
  • Online

18

Nov

2021

1st International Conference on Rare Diseases and Paediatric Research

The 1st International Conference on Rare Diseases and Paediatric Research is being organized by 95, Rare Alliance Greece together with Consorzio…

  • 08:30 - 16:30 (19 novembre 2021)
  • Online

09

Nov

2021

Rare Conversations – European Rare Disease Ecosystem: A Collaborative Path Forward

EJP RD is co-organising the “Rare Conversations – European Rare Disease Ecosystem: A Collaborative Path Forward” conference in cooperation with Alexion, EURORDIS, EUCOPE, and EuropaBio.…

  • 14:00 - 18:00
  • Online

04

Nov

2021

Drug repurposing for rare disease workshop series - part 3

EJP RD is co-organising a series of 3 workshops dedicated to drug repurposing for rare disease. Registration is…

  • 15:00 - 17:00
  • Online

28

Oct

2021

Drug repurposing for rare disease workshop series - part 2

EJP RD is co-organising a series of 3 workshops dedicated to drug repurposing for rare disease. Registration is…

  • 15:00 - 17:00
  • Online

27

Oct

2021

Resource Webinar: Sample Catalogue & BBMRI-ERIC Directory & Negotiator 

Speaker: Esther van Enckevort  Date: 27th October  Registration link to receive connection details Platform Summary: The Sample Catalogue provides an overview of biological…

  • 15:00 - 16:00
  • Online

27

Oct

2021

Quality assurance, variant interpretation and data management in the NGS diagnostics era

3rd Training Course“Quality assurance, variant interpretation and data management in the NGS diagnostics era”October 27 –29, 2021Istituto Superiore di Sanità, Rome, Italy…

  • 10:00 - 16:30 (29 octobre 2021)
  • ONLINE

25

Oct

2021

Training: Pluripotent stem cells for rare disease research: banking, data, application

Registration is open here. Registration deadline: September 27th     General information Rare disease (RD) is one area…

  • 13:30 - 11:45 (27 octobre 2021)
  • Online

21

Oct

2021

Drug repurposing for rare disease workshop series - part 1

EJP RD is co-organising a series of 3 workshops dedicated to drug repurposing for rare disease. Registration is…

  • 15:00 - 17:00
  • Online

14

Oct

2021

Resource Webinar: European Paediatric Translational Research Infrastructure (EPTRI)

Speakers: Valeria Pignataro, Piotr Socha, Maria Grazia Felisi, Elisa Alessandrini, Udo Markert  Date: 14th October  Registration is open…

  • 15:00 - 16:00
  • Online

30

Sep

2021

Clinical Research with databases: The Basics & Beyond Workshop in clinical epidemiological research for ERNs

Organiser – Olaf Dekkers30 September – 1 October 2021Leiden, the Netherlands   GENERAL INFORMATION Research on rare conditions…

  • 14:00 - 15:00 (1 octobre 2021)
  • Hotel Golden Tulip Leiden Centre, Schipholweg 3, 2316 XB Leiden, The Netherlands

30

Sep

2021

GATA2-related Myelodysplastic Syndromes

GATA2-related Myelodysplastic Syndromes Dates: September 30th and October 1st 2021REGISTRATION DEADLINE: SEPTEMBER 10ThVenue: Athena, GreeceOrganizer: Department of Pediatric…

  • 13:00 - 15:00 (1 octobre 2021)
  • Hybrid

27

Sep

2021

International Summer School on Rare Disease Registries and FAIRification of Data

International Summer School on Rare Disease Registries and FAIRification of Data September 27 – October 1, 2021 Istituto…

  • 14:00 - 17:10 (1 octobre 2021)
  • ONLINE

20

Sep

2021

Resource Webinar: European Genome-Phenome Archive (EGA) 

Speaker:  Giselle Kerry (TBC) Date:  20th September  Registration link to receive connection details Platform Summary:  The EGA provides a service for the…

  • 15:00 - 16:00
  • Online

10

Sep

2021

Online Training Orphanet nomenclature and Orphanet Rare Disease Ontology - ORDO for clinicians/researchers

Online Training Orphanet nomenclature and Orphanet Rare Disease Ontology – ORDO for clinicians/researchers 10 September 2021 – Online…

  • 10:30 - 16:45
  • Online

10

Sep

2021

SCN8A & SCN2A Conference & family gathering

The first ever European SCN8A & SCN2A Conference takes place at the University of Bonn (10th-11th September 2021)…

  • 09:00 - 15:30 (11 septembre 2021)
  • University of Bonn, Germany (and online livestream)

09

Sep

2021

Advances in diagnostic and therapeutic methods for lymph flow abnormalities

Organiser – Dr Willemijn M. Klein9th and 10th Sept 2021Will now be conducted online (due to the Covid-19…

  • 09:00 - 17:00 (10 septembre 2021)
  • Online (due to the Covid-19 situation)

31

Juil

2021

Networking Support Scheme (NSS) Event: 5th European Aniridia Conference

The 5th European Aniridia Conference is being organised to enable the sharing of scientific knowledge about the rare genetic eye condition aniridia to prevent…

  • 10:00 - 18:30 (1 août 2021)
  • Online

22

Juil

2021

Resource Webinar: MetaboLights

Due to an unexpected event, this webinar is postponed to a later date that will be communicated soon.…

  • 15:00 - 16:00
  • Online

08

Juil

2021

Alignment of national rare diseases strategies with the European Joint Programme on Rare Diseases

Registration deadline: July 3rd Introduction Objectives Target Audience Registration Agenda Introduction The European Joint Programme on Rare Diseases (EJP RD) is based…

  • 09:30 - 17:00
  • ONLINE

07

Juil

2021

EJP RD Advisory Committee for Therapeutics (ACT) workshop (ERN-focused event)

Organiser – Newcastle University  ONLINE  7th-8th July 2021  GENERAL INFORMATION The main objective of this workshop is to demonstrate the benefits…

  • 14:00 - 15:00 (8 juillet 2021)
  • Online

01

Juil

2021

Webinar: Digitalization of the inborn errors of metabolism pathways from Blau et al.

Speaker: Denise Slenter (Department of Bioinformatics, Maastricht University) Date: 1st July Registration link to receive connection details Description: In…

  • 15:00 - 16:00
  • Online

21

Juin

2021

Resource Webinar: hPSCreg 

Speaker: Nancy Mah  Date: 21st June  Registration link to receive connection details Platform Summary:  The human pluripotent stem cell registry (hPSCreg: https://hpscreg.eu/) maintains a…

  • 15:00 - 16:00
  • Online

27

Mai

2021

Resource Webinar: DECIPHER

Speaker: Julia Foreman  Date: 27th May  Registration link to receive connection details Platform Summary:  DECIPHER is an online data-sharing platform facilitating the…

  • 15:00 - 16:00
  • Online

10

Mai

2021

Rare Disease Biobanks: Roles in Research Networks and International Collaborations

10-11 May 2021 – Online Training REGISTRATION Online registration form Registration deadline is 13 April 2021 IMPORTANT: To ensure…

  • 12:30 - 15:00 (11 mai 2021)
  • Online

30

Avr

2021

EJP RD Technical Hands-on Workshops: GA4GH Phenopackets

15:00 – 17:00 CEST (14:00 – 16:00 BST, 09:00 – 11:00 EDT, 22:00 – 00:00 JST), online public…

  • 15:00 - 17:00
  • Online

26

Avr

2021

Resource Webinar: Cellosaurus

Speaker: Amos Bairoch  Date: 26th April  Platform Summary: Cell line knowledge resource. While the Cellosaurus caters for all kind of  cell lines,…

  • 15:00 - 16:00
  • Online

12

Avr

2021

Training on Strategies to foster solutions of undiagnosed rare disease cases

12 – 14 April 2021. This workshop is online with a web-conferencing format. REGISTRATION IS NOW OPEN HERE…

  • 09:30 - 17:30 (14 avril 2021)
  • Online

25

Mar

2021

Supporting the innovation and exploitation activities of transnational research projects on rare diseases - an EJP RD and EC Webinar

We are pleased to invite you to the webinar co-organised by EJP RD and the European Commission that…

  • 10:00 - 11:15

24

Mar

2021

Resource Webinar: INFRAFRONTIER

Speaker: Montse Gustems  Date: 24th of March, 2021 Registration link to receive connection details  Platform summary:  INFRAFRONTIER is the European…

  • 15:00 - 16:00
  • Online

28

Fév

2021

Rare Disease Day Video

As every year, February is rare disease month which ends on the 28th with Rare Disease Day. Multiple events will…

  • 10:00 - 18:00
  • Online

13

Jan

2021

RE(ACT) Congress & IRDiRC Conference 2021

EJP RD is glad to be a part of the organisation of the RE(ACT) Congress and IRDiRC Conference joint online event that will take…

  • 09:00 - 17:00 (15 janvier 2021)
  • Online

12

Jan

2021

EJP RD Policy Meeting

On the 12th and 13th of January, The European Joint Programme on Rare Diseases (EJP RD) held its…

  • 13:00 - 12:00 (11 janvier 2021)
  • Online