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…
Interview with Shannon Bonner, graduate student of genetic counseling at Baylor College of Medicine, Houston, Texas, USA Who are you & what is your relationship to OI? My name is Shannon Bonner and I am currently a graduate student studying genetic counseling at Baylor College of Medicine which is located in Houston, Texas. In the…
On December 6th three representatives from OIFE took part in the first edition of the Rare Bone Disease (RBD) Summit: Oliver Semler Ingunn Westerheim Inger-Margrethe Stavdal Paulsen On December 14th we will attend the second half of the two half-day multi-stakeholder meeting. The RBD (Rare Bone Disease) Summit is a global multi-stakeholder group meeting that aims to provide a platform…
The IMPACT Survey is a joint initiative between the umbrella organization Osteogenesis Imperfecta Federation Europe (OIFE), the OI Foundation & the pharma company Mereo BioPharma. Together we’re delighted to announce that English version of The IMPACT Survey is now live and will be running until 10th September 2021. Next week we will also launch the survey…
We need your help! OIFE and EURORDIS need your opinion on future policy for people with OI and other rare diseases! If enough people with OI worldwide provide an answer to this survey, it will help us shape the future of rare disease policies regarding access to health care, medical and social research and diagnosis…
