Diamond-Blackfan anemia is a rare disease characterized by a defect in the production of red blood cells. In a plenary paper published in the journal Blood on May 26th, scientists highlighted a new form of the disease linked to the loss of function of the HEATR3 gene , the product of which chaperones the synthesis…
A funded networking event « European meeting on Phelan-McDermid syndrome » is being organised to discuss the guideline recommendations and to strengthen the collaboration that was started in 2020 by the European consortium on Phelan-McDermid syndrome (PMS) and supported by ERN-ITHACA, in order to tackle the knowledge gaps that they identified, as well as to discuss how best to…
A funded networking event « 2nd International Congress on Biliary Atresia and Related Diseases (BARD) » is being organised to offer access to the latest research and analysis related to this family of rare diseases. This event has received funding support from the EJP RD’s Networking Support Scheme (NSS) funding opportunity as part of the second round of funding…
A funded networking event “3rd International Symposium for Researchers and Clinicians on Wiskott Aldrich Syndrome (WAS2022)” is being organised to offer access to the latest research and analysis related to this rare disease. This event has received funding support from the EJP RD’s Networking Support Scheme (NSS) funding opportunity as part of the first round of funding…