Osteogenesis Imperfecta News and Research

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Osteogenesis imperfecta (OI) is a rare genetic disorder that, like juvenile osteoporosis, is characterized by bones that break easily, often from little or no apparent cause. However, OI is caused by a problem with the quantity or quality of bone collagen resulting from a genetic defect.

Muscle cells play a vital role in repairing fractured bones

Bone healing is a complex process that depends on the coordinated activity of many different cell types.

14 Aug 2026

New genomic map identifies hundreds of genes governing bone health

In a global breakthrough published in Nature Genetics, researchers have successfully mapped the cells and genes that regulate bone formation and loss at an unprecedented scale and discovered the critical role that blood vessel cells play in bone health.

10 Jul 2026

Researchers urge caution over large-scale newborn genome screening

New research from large population studies provides invaluable evidence on genome screening of newborn babies to reduce risks from overdiagnosis.

15 Jun 2026

Clinical trial challenges long held beliefs about treating brittle bone disease

Increasing bone density in patients with a rare genetic condition that causes bones to break easily does not prevent fractures, a large clinical trial has found.

14 May 2026

Groundbreaking study explores prenatal drug therapy for osteogenesis imperfecta

Shriners Children's St. Louis is proud to announce that one of its lead researchers, Dr. Arin Oestreich, has been awarded a $3.1 million R01 grant from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).

5 May 2026

Cryo-EM reveals how proteins are protected during synthesis

Proteins are often called the building blocks of cells, but even those building blocks need to be built. One of the most important steps in the process of building proteins is glycosylation, when sugar molecules (glycans) are attached to the maturing protein.

19 Nov 2025

New mouse model reveals key role of osteocytes in osteogenesis imperfecta

Osteogenesis imperfecta (OI) refers to a group of rare genetic bone disorders that results in the formation of fragile bones. In patients with OI, the matrix that makes up the bone has been found to be abnormal, leading to an increased risk of fractures.

13 Aug 2025

CRISPR technologies paving the way for advances in regenerative medicine

A recent review published in the journal Engineering delves into the significant advancements and potential of CRISPR technologies in the field of regenerative medicine.

13 Mar 2025

Researchers identify key players in abnormal bone differentiation

A study conducted by researchers at Baylor College of Medicine and collaborating institutions reveals the molecular events leading to osteogenesis imperfecta type V, a form of brittle bone disease caused by a mutation in the gene IFITM5.

27 Jun 2024

YAP and TAZ proteins guide bone development in the womb

A pair of proteins, YAP and TAZ, has been identified as conductors of bone development in the womb and could provide insight into genetic diseases such as osteogenesis imperfecta, known commonly as "brittle bone disease."

4 Jan 2024

Treg transplantation improves bone remodeling, study says

The building blocks of a structure consist of load-bearing elements that rarely change despite renovations or repairs. They remain intact and consistent over time, but in the human body, our building blocks do just the opposite.

13 Sep 2022

$Researchers report a new genetic cause for infantile fractures$

Researchers report a new genetic cause for infantile fractures

An intrauterine fracture is a rare finding during routine prenatal imaging. This condition can be due to maternal trauma, genetic disorders of the skeleton, as well as other predisposing maternal metabolic and vascular disorders.

18 Jun 2021

New guidance provides valuable direction in the clinical use of HR-pQCT imaging

In recent years, significant progress has been made towards the use of high-resolution peripheral computed tomography (HR-pQCT) imaging in research, and new potential for applications in the clinic have emerged, particularly with the advent of second generation devices.

18 Jun 2021

Researchers use massive sequencing methods to identify rare genetic bone disorder

Researchers of the "Cell Biology and Physiology-LABRET" group of the University of Malaga (UMA), together with the Networking Biomedical Research Center in Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), have described a new genetic skeletal disorder based on a precision medicine strategy.

22 Dec 2020

Researchers use precision medicine strategy to identify a new genetic skeletal disorder

21 Dec 2020

Jackson Laboratory announces research affiliation, publishes new papers on genes and microbiome

January has been an exciting month at The Jackson Laboratory (JAX). With this surplus of news, we wanted to share three major stories from the past week:

31 Jan 2020

Mapping genetic links between diseases using data from electronic health records

Physicians use standard disease classifications based on symptoms or location in the body to help make diagnoses. These classifications, called nosologies, can help doctors understand which diseases are closely related, and thus may be caused by the same underlying issues or respond to the same treatments.

9 Dec 2019

Hong Kong Baptist University receives FDA orphan drug designation for novel aptamer

A research team from the School of Chinese Medicine at Hong Kong Baptist University has successfully developed a novel aptamer, i.e. a single-stranded piece of DNA, for the treatment of osteogenesis imperfecta (OI) with the aid of artificial intelligence (AI) technology.

23 Oct 2019

Researchers develop revolutionary zebrafish model to gain more insight into bone diseases

Although much scientific research has been done into the development of the skeleton, the underlying mechanisms that drive the formation and maintenance of our bones are still not very well understood, and research into the development of our bone remains of enormous importance.

13 Aug 2018

$Researcher reveals new way to stimulate bone fracture healing$

Researcher reveals new way to stimulate bone fracture healing

Most people have broken a bone or know someone who has. A break is painful and takes time to heal. Recovering from a fracture is even more complicated and lengthy when your body is not able to produce what is needed to heal.

26 Jul 2018