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, 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…
The NEUROPATHIES REHABILITATION SUMMER SCHOOL will take place at Hotel Excel Monte Mario in Rome from September 18th to 21st, 2023. This summer school aims to improve your knowledge on current and future modalities of rehabilitation in rare and complex peripheral neuropathies. The key objectives of this summer school is to Educate clinicians, researchers, physiotherapists…
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…
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…
The International Mouse Phenotyping Consortium is organising an Open office TODAY! Wednesday 24th May 12 pm JST / 5 pm CEST / 4 pm BST / 11 EDT / 8 PDT. Duration: 1 hour. This event is open to the community, and we strongly encourage you to share the event with your networks or fellow researchers…
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…
The Solve-RD consortium and associated European Solve-RD network, including among others six European Reference Networks, EURORDIS, Orphanet and leading European Rare Disease Clinicians and Researchers in 20 countries, call upon all European RD stakeholders, including EU Member States, the European Commission, the Council of the European Union, the general public and private organisations active in…
This year the annual conference of the International Mouse Phenotyping Consortium (IMPC) will be held at Keble College, Oxford, UK from the 10-11 July. The conference is entitled: The Power of Mouse Genetics: Opportunities for Genomic and Precision Medicine. It features an outstanding list of distinguished speakers at the forefront of mouse and human genetics who will…
EURORDIS-Rare Diseases Europe has announced the call for volunteers to join our Digital and Data Advisory Group (DAG). The group provides advice to EURORDIS on all aspects of digital health policies and procedures, with the mission of recognising and acting upon opportunities for people living with rare diseases. The organisation is looking for three dedicated…