What is PROS?
PROS, or “PIK3CA-Related Overgrowth Spectrum,” is a group of conditions caused by changes in the PIK3CA gene. This gene plays a role in cell growth and development. A mutation in this gene can cause certain cells to grow too quickly or excessively, leading to tissue and organ overgrowth. The severity and type of overgrowth can […]
Prof. Dr. Peter Steijlen retired
Prof. Dr. Peter Steijlen from Maastricht University Medical Center (MUMC+, the Netherlands) will retire as of January 8, 2025. Peter has been a medical advisor to our organization for many years. We would like to thank him for his contributions and wish him a long and healthy retirement!
Patient pathways
Patient pathways aim to improve the care and management of patients with a rare disease. These pathways include the “red flags” that may lead to the suspicion of the disease, the steps to reach a definitive diagnosis, and recommendations for management and follow-up. They are a very important tool in defining the best patient care […]
Merry Christmas and a Happy 2025
The CMTC-OVM board wishes everyone a Merry Christmas and a Prosperous 2025!
Overview genes and vascular malformations
Over time, researchers are gaining more clarity about which genes are involved in which conditions, and vice versa. One of these researchers is Prof. Dr. Miikka Vikkula (one of our advisors). He has developed and maintains a timeline that links specific genes (potentially) to certain vascular malformations. More information
Laurens: EUPATI fellow
Our Laurens is EUPATI Fellow! A EUPATI Fellow is someone who has completed an intensive training program through the European Patients’ Academy on Therapeutic Innovation (EUPATI). This program focuses on equipping patients, caregivers, and other stakeholders to take an active role in medicines development and health research. Purpose of EUPATI EUPATI is a European initiative […]
Help our Eden
My name is Eden, I’m 20 years old and from Wales, UK. I was diagnosed with CMTC as a baby. I have never known a life without my condition, however, I certainly encountered the difficulty of coming to terms with my body as a young child. However, as I got older and more accustomed to […]
Added value patient organisations for medical professionals
As one of the many Patient Organizations, we visit all kinds of conferences with the main goal of making the patient’s voice heard and contributing to improving the quality of life of the patient and his/her family. Because what is it really about? The patient! And what is a doctor doing? The patient too! It […]
Agenda and Registration for Members’ Conference Netherlands 2024
It’s time once again for our Global Members’ Conference in the Netherlands 2024! The conference begins on the evening of Friday, October 25th, and concludes after lunch on Sunday, October 27th. This year, we have another very diverse agenda with various speakers, a panel to answer your questions, chair massages, excellent lunch and dinner buffets, […]
Help Matthias, who has a port-wine stain
Hi everyone! 🤍 My name is Matthias, and I was born with a port-wine stain. This personal experience has inspired me to pursue a career in dermatology, where I hope to give back to the amazing community that has supported me. As part of my studies, I’m conducting research on the psychological and social impacts […]