Patient Spotlight: Fynan Family Fueled by OI Research Dakota Campbell Tue, 11/16/2021 - 12:06
The Fynan family posing on a beach

Michelle Fynan, PhD, LMHC, is a mother of two daughters, age seven and four. She and her daughters are diagnosed with osteogenesis imperfecta (OI) type I, the mildest form of OI, which is characterized by bone fractures that often result from minor trauma. Here, Michelle shares her journey with OI, from adolescent struggles to finding her purpose as an OI activist and researcher.

Early-Stage Investigator Spotlight: Chaya Nautiyal Murali Gets Creative with Osteogenesis Imperfecta Research Dakota Campbell Tue, 11/09/2021 - 13:32
Headshot of Chaya Nautiyal Murali, MD

Chaya Nautiyal Murali, MD, is a pediatric geneticist at Baylor College of Medicine and a member of the Brittle Bone Disorders Consortium (BBDC). She is also an accomplished essayist, using her creative writing skills to highlight themes of identity, inheritance, and family through the lenses of immigration and genetics. Here, she shares her start in rare disease research, exciting discoveries, and future goals.

Consortium Spotlight: Advancing Discoveries in Brittle Bone Disorders Dakota Campbell Wed, 11/03/2021 - 11:58
Members of the Brittle Bone Disorders Consortium

The Brittle Bone Disorders Consortium (BBDC) brings together physicians, researchers, and educators to learn more about osteogenesis imperfecta (OI), a genetic disorder that mainly affects the development of the bones. The goal is to develop new and better treatments for patients with OI. Here, principal investigator Brendan Lee, MD, PhD, and Vernon Sutton, MD, share the history of the consortium, current research, and future plans.

Higher Levels of Collagen X with Lower Growth Velocity May Reflect Growth Plate Dysfunction in Osteogenesis Imperfecta Dakota Campbell Thu, 08/12/2021 - 09:43
Brittle Bone Disorders Consortium logo

Children with osteogenesis imperfecta (OI) may experience growth plate dysfunction, according to a recent study in the journal Bone. Researchers from the Brittle Bone Disorders Consortium (BBDC) found a higher ratio of collagen X (CXM) levels for growth velocity in children with OI, revealing new clues about how this disease may affect the growth plate.

Patient Advocate Spotlight: Tracy Hart Fosters Connections to Help Patients with Osteogenesis Imperfecta Dakota Campbell Tue, 01/26/2021 - 17:27
Tracy Hart
Tracy Hart, CEO of the OI Foundation (left)
with Ingunn Westerheim, president of the
OI Federation Europe

Tracy Hart, chief executive officer of the Osteogenesis Imperfecta Foundation, serves as chair of the RDCRN’s Coalition of Patient Advocacy Groups. Here, she talks about her work as a rare disease advocate, the founding of the Brittle Bone Disorders Consortium (BBD), and their work in rare disease patient advocacy and research.

Exploring Oral Health-Related Quality of Life in Children with Osteogenesis Imperfecta Dakota Campbell Wed, 08/26/2020 - 13:52
Zoe Fang, an osteogenesis imperfecta (OI) patient, at an arcade
Zoe Fang, an osteogenesis imperfecta (OI) patient, at an arcade

In a new study, researchers in the Rare Diseases Clinical Research Network’s Brittle Bone Disorders Consortium (BBD) surveyed adolescents with osteogenesis imperfecta (OI) to learn about their oral symptoms and how these affect their quality of life. Participants’ answers are clarifying the oral health needs of kids with OI and guiding future research for orthodontic interventions.