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…
Dr. Lidiia Zhytnik is a post-doc researcher at UMC Amsterdam, The Netherlands and a member of OIFE’s Medical Advisory Board. She has been part of a team who made a narrative review to systematize novel insights into OI genetics, reproductive options, family planning, decision-making and ethical issues. The team aimed to fill the existing gaps…
The Osteogenesis Imperfecta Variant Database (OIVD) is the only database worldwide dedicated to OI, in which genetic variants are evaluated by experts in OI molecular genetics. The OI Variant Database has been serving the OI community for decades by providing a reliable source to consult about the pathogenicity of genetic variants. History of the OI…
Interview with Leanne Baird, graduate of the University of Cincinnati Genetic Counseling Graduate Program Who are you & what is your relationship to OI? My name is Leanne Baird, and I am a recent graduate of the University of Cincinnati Genetic Counseling Graduate Program in the US. I have a passion for educating patients about…
WHAT IS THE OI VARIANT DATABASE? Professor Raymond Dalgleish moved to the University of Leicester in January 1984 and set up a group to study the genetics of OI and vascular EDS. Since 1984 he has on a volunteer basis been systematically collecting all publications describing OI-causing sequence variants (mutations). At first the database was…
In place of the in-person OIF National Conference this year, the Osteogenesis Imperfecta Foundation in the USA will host a Virtual Conference on July 10-12, 2020. The Virtual OIF Conference will provide live online versions of some of the most popular informational and social sessions at the biennial OIF National Conference. People from all countries…
EURORDIS launched Winter School with the aim of deepening patient representatives’ understanding of how pre-clinical research translates into real benefits for rare disease patients. The training equips participants with knowledge and skills so they are empowered to effectively participate in discussions with the researchers, policy makers and companies responsible for research or research infrastructures. The 2nd edition…
