EJP RD News

EJPRD ERN Workshop: CDH1 related hereditary diffuse type gastric cancer – Registration date extended!

EJP RD News, NewsPar Madeline Chatel 16 août 2023

The hereditary tumour syndrome that correlates with a carriership of a pathogenic CDH1 variant is very rare and as such underrecognized. Early recognition however can save lives by preventing death due to diffuse type gastric cancer at early age. Therefore, (refresher) training of all clinical workers involved in early recognition, surveillance, treatment, and aftercare is important. This two-days…

Publication of an EJP RD Abstract in the Orphanet Journal of Rare Diseases

EJP RD News, NewsPar Madeline Chatel 14 juin 2023

The abstract on “The European Joint Programme on Rare Diseases: an integrative approach fostering the RD research ecosystem“ submitted in the context of the European Conference on Rare Diseases (ECRD) 2022 in which EJP RD was serving as a full partner, was published in the Orphanet Journal of Rare Diseases on Friday, 2nd June (under P43 section).…

Our new interview of Pr. Pierre Emmanuel Gleizes – RIBOEUROPE: The European Ribosomopathy Consortium!

EJP RD News, NewsPar Madeline Chatel 14 juin 2023

Watch the insightful interview with Pr. Pierre-Emmanuel Gleizes, Coordinator of RIBOEUROPE: The European Ribosomopathy Consortium. Funded by the European Joint Programme on Rare Diseases (EJP RD), Pierre-Emmanuel Gleizes sheds light on the remarkable work his team is doing to combat a rare disease and the tremendous potential of European collaboration in achieving their goals. More…

New EJP RD ERN Workshop – Urogenital Tissue Engineering from bedside to bench and back!

EJP RD News, NewsPar Madeline Chatel 8 juin 2023

Regenerative Medicine aims to address unmet medical needs by combining our body’s own repair abilities with innovative engineering. Our workshop will look out at new developments and technologies to overcome disillusions and move forward as there is a clear and urgent need for novel biomaterials and functional meshes. It will take place at the Regenerative…

EJP RD – RD Connect Genome-Phenome Analysis Platform (GPAP) webinar

EJP RD News, NewsPar Madeline Chatel 6 juin 2023

This is an introductory webinar to demonstrate the benefits of using the RD-Connect Genome-Phenome Analysis (GPAP) platform for rare-disease analysis. The aim is to demonstrate how to use the RD-Connect GPAP Genomic Analysis module, which supports research use cases that might lead to diagnosis, including gene discovery and cohort analysis. This webinar will take place online…

Brain Metabolism Workshop: From Rare Diseases to Common Biological Pathways

EJP RD News, NewsPar Madeline Chatel 5 juin 2023

Brain metabolism, which has been largely disregarded in the traditional approach to investigating and treating neurological diseases, is a major clue and probably the next imminent “revolution” in neurology and neuroscience. It will take place on July 6-7 2023. The workshop will be hybrid, so you will have the option to attend in person (Sant Joan…

New ERN Workshop: CDH1 related hereditary diffuse type gastric cancer: the shift from prophylactic total gastrectomy to optimal endoscopic surveillance

EJP RD News, NewsPar Madeline Chatel 26 mai 2023

New ERN Workshop: Advances in regenerative medicine and tissues engineering for rare musculoskeletal diseases

EJP RD News, NewsPar Madeline Chatel 26 mai 2023

This workshop aims to improve the knowledge and competences on up-do-date regenerative medicine and tissue engineering technologies exploited in the design of advanced therapies for rare diseases affecting skeletal muscles and bones. The topic will cover both advanced therapies already in clinical trials and innovative strategies undergoing translational research that merges contributes from a wide…

New EJP RD Training: Replicated N-of-1 Randomized Controlled Trials (RCTs) for Rare Diseases

EJP RD News, NewsPar Madeline Chatel 23 mai 2023

An N-of-1 trial is defined as a prospective, multiple crossover trial in a single patient. If randomization of the treatment sequence and replication across patients is included in the trial design, then it results in “replicated N-of-1 RCTs”. In the webinar, we will demonstrate one approach to the statistical analysis of data collected in N-of-1 RCTs based on the randomization of the…

5th International Training Course on “Quality assurance, variant interpretation and data management in the NGS diagnostics era”

EJP RD NewsPar Onakoy Tanguy 12 mai 2023

The 5th International Training Course on « Quality Assurance, Variant Interpretation, and Data Management in the NGS Diagnostics Era » is set to be held in Warsaw, Poland, from 18th to 20th October 2023. This course welcomes participants from the international research community, including clinicians, medical specialists, laboratory scientists (EBMG registered), junior laboratory scientists, clinical geneticists, policy…

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