Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Advances in osteogenesis imperfecta.

William G Cole1

  • 1Division of Orthopaedics, The Hospital for Sick Children, Toronto, Ontario, Canada.

Clinical Orthopaedics and Related Research
|August 2, 2002
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.

The New England journal of medicine·2013
Same author

Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosis.

European journal of medical genetics·2012
Same author

Primary osteoporosis without features of OI in children and adolescents: clinical and genetic characteristics.

American journal of medical genetics. Part A·2012
Same author

Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.

BMC medical genetics·2012
Same author

How stand productivity results from size- and competition-dependent growth and mortality.

PloS one·2011
Same author

Mutations in TRPV4 cause an inherited arthropathy of hands and feet.

Nature genetics·2011
Same journal

Impact Microindentation Evaluates Bone Strength, Bone Quality, and Fracture Susceptibility Across Skeletal Sites: A Cadaver Study.

Clinical orthopaedics and related research·2026
Same journal

What Is the Effect of Robot Reduction in Displaced Pelvic Fractures? A Multicenter Randomized Clinical Trial.

Clinical orthopaedics and related research·2026
Same journal

CORR Insights®: Acute or Delayed TKA for Tibial Plateau Fracture? An Observational Study From the Swedish Arthroplasty Register.

Clinical orthopaedics and related research·2026
Same journal

Reply to the Letter to the Editor: Guest Editorial: Recalling a Recall.

Clinical orthopaedics and related research·2026
Same journal

Radial Head Fractures Cluster in the Anterolateral and Anteromedial Quadrants and Do Not Correlate With Coronoid Fracture Types.

Clinical orthopaedics and related research·2026
Same journal

Reduced Cerebellar Activation With Eyes Closed Is Associated With Delayed Peroneal Reaction Time in Patients With Chronic Ankle Instability.

Clinical orthopaedics and related research·2026
See all related articles

Osteogenesis imperfecta research advances include expanded classifications and gene identification. Bisphosphonate treatment shows significant clinical improvement, while cell and gene therapies are in early development for this brittle bone disease.

Area of Science:

  • Genetics and Regenerative Medicine
  • Orthopedics and Skeletal Dysplasias

Background:

  • Osteogenesis imperfecta (OI) is a group of genetic disorders characterized by brittle bones.
  • Current research focuses on refining classifications and identifying novel genetic causes beyond Type I collagen mutations.

Purpose of the Study:

  • To summarize recent advancements in osteogenesis imperfecta research.
  • To highlight emerging therapeutic strategies for OI.

Main Methods:

  • Review of current literature on osteogenesis imperfecta classification, genetics, and treatment.
  • Analysis of findings from medium-term studies on bisphosphonate therapy.
  • Assessment of early-phase research in somatic cell and gene therapies for OI.

Main Results:

Related Experiment Videos

  • The Sillence classification for osteogenesis imperfecta is being expanded to encompass more subgroups.
  • Bisphosphonate therapy has demonstrated significant clinical improvement in medium-term studies.
  • Somatic cell therapies (bone marrow, mesenchymal stromal cells) and gene therapies are under investigation.

Conclusions:

  • Significant progress is being made in understanding and treating osteogenesis imperfecta.
  • Bisphosphonates represent a key therapeutic advancement.
  • Cellular and gene-based therapies offer future potential for OI treatment.