Past EJP RD Events

Past EJP RD Events

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 September 2022)
  • Online

26

Aug

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 August 2022)
  • Online and Regensburg, Germany

04

Jul

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 July 2022)
  • Bari, Italy

30

Jun

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

Jun

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 July 2022)
  • Online

20

Jun

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 June 2022)
  • Groningen, Netherlands

17

Jun

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

Jun

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 June 2022)
  • Bruges, Belgium

14

Jun

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 June 2022)
  • Online

14

Jun

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 June 2022)
  • Lyon, France

10

Jun

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

Jun

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 June 2022)
  • Faculty of Medicine of Lyon, France

31

May

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

May

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 May 2022)
  • Paris, France

27

May

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 May 2022)
  • Belgrade, Serbia

27

May

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 May 2022)
  • Naples, Italy

06

May

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

May

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

Apr

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 April 2022)
  • Hybrid (Online and Florence, Italy)

27

Apr

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 April 2022)
  • Camogli, Italy

11

Apr

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 April 2022)
  • Online

02

Apr

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 April 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 April 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 March 2022)
  • Hotel Novotel Nice Centre Vieux-Nice, Nice, France

24

Feb

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 February 2022)
  • Esteve Auditorium of the Esther Koplowitz Cente

03

Feb

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 February 2022)
  • Hybrid (Online and Medical University Vienna, Vienna, Austria)

16

Dec

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

Dec

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

15

Dec

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

14

Dec

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

Dec

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 November 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 October 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 October 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 October 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 October 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 October 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 September 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 September 2021)
  • Online (due to the Covid-19 situation)

31

Jul

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 August 2021)
  • Online

22

Jul

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

Jul

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

Jul

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 July 2021)
  • Online

01

Jul

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

Jun

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

May

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

May

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 May 2021)
  • Online

30

Apr

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

Apr

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

Apr

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 April 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

Feb

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 January 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 January 2021)
  • Online