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.

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

New technique allows researchers to create large scale, personalized bone grafts

Scientists from the New York Stem Cell Foundation Research Institute have developed a new bone engineering technique called Segmental Additive Tissue Engineering.

18 Jul 2018

Researchers find link between mutations in TRAF7 gene and multisystem disorder

A group of seven patients presenting with a similar disorder of unknown origin now know of a possible genetic root of their condition.

28 Jun 2018

Transcription factor Sp7 found to play key role in tooth development

Amjad Javed, Ph.D., and University of Alabama at Birmingham colleagues have found a key role in tooth development for the transcription factor Specificity protein 7, or Sp7.

11 Apr 2018

Scientists take tissue-engineering approach to improve healing related to skeletal system

"Take a knee." "On bended knee." A "knee-slapper." "The bee's knees." The knee certainly carries a lot of weight in the English language, just as it does in the body. As the largest and one of the most complicated joints, the knee is also one of the most easily injured.

23 Jan 2018

Clinical study shows positive results for two yoga poses to decrease scoliosis curves

Continuing clinical research shows strongly positive results for two yoga-like isometric maneuvers to decrease scoliosis curves in 6,000,000 -9,000,000 million Americans, young and old, providing a potentially enormous decrease in health care costs and human misery.

15 Nov 2017

Study assesses upper, lower extremity muscle function in Osteogenesis Imperfecta Type IV

Osteogenesis Imperfecta (OI) is a heritable disorder characterized by increased bone fragility. In OI Type IV muscle weakness has important functional consequences. Children and adolescents with OI type IV often have restricted mobility despite multidisciplinary treatment with bisphosphonates, intramedullary rodding surgery and rehabilitation.

26 Jul 2017

LHSNet focuses on improving patient-centered clinical care through translational research

The Learning Health System Network represents a collaboration of nine health-related organizations and nearly 10 million patients. The network - among the first of its kind nationally - is focused on improving patient-centered clinical care through research.

15 Feb 2017

Scientists identify mutation responsible for new, rare genetic disorder

An international team of researchers has discovered the mutation responsible for a rare, newly identified genetic disorder that causes craniofacial abnormalities and developmental delays.

28 Jul 2016

Scientists discover X-chromosome-inherited type of osteogenesis imperfecta

Researchers from the University of Zurich and University Children's Hospital Zurich have discovered the first X-chromosome-inherited type of the congenital disease osteogenesis imperfecta, also known as brittle-bone disease.

6 Jul 2016