null Frank Rauch, MD
pediatric bone disorders • fractures • muscle-bone interaction • osteogenesis imperfecta • osteoporosis
My research focuses on bone health in children. As a pediatrician at the Shriners Hospital for Children, I follow one of the largest existing patient populations with osteogenesis imperfecta. My research on osteogenesis imperfecta investigates genetic causes, pathophysiology and medical treatment of this disorder. This includes clinical trials on new pharmacological approaches in children and adolescents as well as translational studies in mice. I also have a longstanding interest in muscle-bone interaction, given that muscle action plays such an obvious role in skeletal development. I am currently the principal investigator of an epidemiological study that assesses muscle-bone interactions in a population-based study on 10,000 Canadians.
Robinson ME, Trejo P, Palomo T, Glorieux FH, Rauch F. Osteogenesis imperfecta: Skeletal outcomes after bisphosphonate discontinuation at final height. J Bone Miner Res 2019;34:2198–2204. PMID: 31356699.
Tauer JT, Abdullah S, Rauch F. Effect of anti-TGF-beta treatment in a mouse model of severe osteogenesis imperfecta. J Bone Miner Res 2019;34:207-214. PMID: 30357929.
Blouin S, Fratzl-Zelman N, Glorieux FH, Roschger P, Klaushofer K, Marini J, Rauch F. Bone matrix hypermineralization and increased osteocyte lacunae density in patients with osteogenesis imperfecta type V. J Bone Miner Res 2017;32:1884-1892. PMID: 28548288.
Bardai G, Moffatt P, Glorieux FH, Rauch F. DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: Diagnostic yield and mutation spectrum. Osteoporos Int 2016;27:3607-3613. PMID: 27509835.
Mendoza-Londono R, Fahiminiya S, Majewski J, Care4Rare Canada Consortium, Tétreault M, Nadaf J, Kannu P, Sochett E, Howard A, Stimec J, Dupuis L, Roschger P, Klaushofer K, Palomo T, Ouellet J, Al-Jallad H, Mort JS, Moffatt P, Boudko S, Bachinger HP, Rauch F. Recessive osteogenesis imperfecta caused by missense mutations in SPARC. Am J Hum Genet 2015;96:979-985. PMID: 26027498.