MetabERN, in collaboration with healthcare professionals and patient representatives, is hosting a webinar on 18 February 2026 at 17.00 Central European Time (CET). The webinar, which is part of the MetabERN Patient Therapeutic Education Programme, is titled “Smith-Lemli-Opitz syndrome from a holistic family perspective”. The session aims to disseminate information about Smith-Lemli-Opitz syndrome (SLOS) and increase knowledge and understanding of SLOS symptoms from a holistic perspective for patients and their families.
Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder caused by a defect in cholesterol biosynthesis affecting approximately 1 in 10.000 to 70.000 newborns with symptoms varying from near normal to life-threatening. This webinar will spotlight a successful collaboration between patient representatives and healthcare providers on the European SLOS Natural History (NH) project.
Prof. François Eyskens (Antwerp University Hospital, Belgium) MetabERN Education and Training Coordinator, will give an introduction to the MetabERN subnetwork “Peroxisomal and lipid-related disorders”. PD Dr. Dorothea Haas (Heidelberg University Hospital, Germany) will provide insights on pathophysiology, incidence, clinical presentation and therapeutic options and Karin Mossler (Jenny Mossler Rockström Foundation), patient representative in MetabERN for SLOS, will present the results of the SLOS Family survey and stress the need for more knowledge and a holistic perspective. A question-and-answer session will be held following the presentations.
Deadline for registration: 18 February 2026, 13.00 Central European Time (CET).
The webinar is targeted at patient representatives and healthcare professionals and will be held in English. Discover how collaborative efforts between healthcare professionals and patient representatives can enhance understanding of the challenges faced by patients and their families and make a significant impact in the management and understanding of rare diseases.
