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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MEDICAL

OIFE Pain & OI Project

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…

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LaboratoryMEDICAL

Free genetic testing

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…

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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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Child hand in adults handMEDICAL

Child abuse & OI – from geneticist perspective

Interview with Professor Gerard Pals, biochemist (MSc) and geneticist (PhD) at the VU university hospital in Amsterdam, The Netherlands Who are you and what is your relationship to OI? I am a biochemist (MSc) and geneticist (PhD). In 1989 I started a diagnostic laboratory for DNA and protein testing of inherited diseases, including OI, at…

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Sofie and familyMEDICAL

Wrongly accused of child abuse

Interview with Sofie Hellström, mother of Gabriel, affected by a milder form of OI type 4 Who are you and what is your relationship to OI? My name is Sofie Hellström, I am 31 years old and I was introduced to OI in the summer 2020 when my son was diagnosed with a milder form…

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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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MEDICAL

Virtual forum for OI surgeons

Interview with Dr. Jeanne Franzone & Dr. Richard Kruse, Nemours Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA Soon after the initiation of the COVID pandemic, in June of 2020, Dr. Jeanne Franzone c (Nemours Alfred I. duPont Hospital for Children, Wilmington, DE), Dr. Maegen Wallace (Children’s Hospital and Medical Center Omaha, NE) and Dr.…

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