MEDICAL

HR-pQCT: A revolution in bone imaging

Interview with Bettina Willie, Professor at McGill University and Shriners Hospital for Children in Montreal, Canada Who are you and what is your relationship to OI? I am Bettina Willie, and grew up in Utah, US. I earned a doctoral degree in Bioengineering from the University of Utah and I did my first postdoctoral training…

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MEDICAL

Bisphosphonates & Pain in OI

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…

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RESEARCH

TOPaZ trial still recruiting

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…

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MEDICAL

OI & child abuse – pediatric radiologist perspective

Interview with Professor Amaka Offiah, University of Sheffield and honorary consultant pediatric radiologist at Sheffield Children’s Hospital Who are you and what is your relationship to OI? I work as a professor at the University of Sheffield, employed by the University of Sheffield but I am also an honorary consultant pediatric radiologist at Sheffield Children’s…

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CONFERENCES

Registration is open – OIFE Investigator Meeting

The umbrella association Osteogenesis Imperfecta Federation Europe (OIFE) is together with members from our Medical Advisory Board invite you to register for the very first virtual European Investigator Meeting for osteogenesis imperfecta (OI), which we hope will become an annual tradition. The event will take place on Zoom November 18th 2022, 2 PM – 7…

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MEDICAL

OI & Reproduction

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…

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RESEARCH

Get in Touch – OI Variant Database

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…

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RESEARCH

Fetal diagnosis of OI during pregnancy

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…

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MEDICAL

Family planning amoung young adults with 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…

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