By Dace Liepina, former OIFE Vice President The iCAN (International Children’s Advisory Network) Summit 2022 took place in Lyon, France. It was an event for young people aged 12 to 19 from all around world to meet, exchange ideas and learn more about rare diseases and children’s rights, health and data protection. Many of the…
Interview with Mercedes Rodriguez Celin, pediatrician at Shriners Hospital for Children, Chicago Who are you & what experience do you have with Pain & OI? I am Mercedes Rodriguez Celin; I am a pediatrician from Argentina with a specialty in Growth and Development. I worked for ten years at the Skeletal Dysplasia Clinic at Garrahan…
On November 18th OIFE hosted our very first OIFE Investigator Meeting. More than 140 participants from Europe and beyond took part in the online event which included mainly researchers, clinicians, but also some industry representatives, patient representatives and students. The programme both included interesting talks about what is going on in European OI research (basic…
From November 8-9 Ingunn and Renata attended the EURORDIS Council of Federations meeting in Paris. Inger-Margrethe S. Paulsen from NFOI also attended. Among the topics were access to treatments and the pharmaceutical legislation, information about Rare Disease Week and future funding options in research. There was also an update on the situation for people with…
On October 23rd around 30 delegates from OIFE’s member organizations came together to elect a new and expanded Board. This would replace the Interim Board elected at the establishment meeting of OIFE under Belgian law (March 8, 2022), which consisted of the former members of the Executive Committee (OIFE EC). Three candidates had put themselves…
Background Pain is reported to be the main challenge for people with OI besides fractures. More than 60 percent of people with OI have chronic pain, and the percentage and complexity increase with age. In spite of this, there is very little information about how you can manage pain as a child or adult with…
Kristian is an Australian professional video editor and graphic designer. He is using a wheelchair, but this didn’t stop him from making a dream come true: performing with the Bangalow Theatre Company doing the Musical “RENT”, his favorite musical. Kristian also talks for instance about daily challenges and the situation of people with a disability…
Do you need a genetic test, but have problems accessing it? The Discover Dysplasias® program provides individuals suspected of having an inherited skeletal dysplasia (incl. OI) access to high-quality genetic testing. Early access to testing can enable an accurate diagnosis, which can lead to improved patient outcomes. Blueprint Genetics and BioMarin collaborate to offer a…
TOPaZ is a randomised open-label clinical trial for people with osteogenesis imperfecta (OI). The study aims to investigate whether a two-year spell of treatment with a drug called teriparatide (TPTD) followed by treatment with another drug called Zoledronic acid (ZA) reduces the risk of broken bones occurring in people with OI. The TOPaZ trial receives…
