Osteopetrosis News and Research

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$Researchers report a new genetic cause for infantile fractures$

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

Researchers identify CLCN6 as disease gene for severe lysosomal neurodegenerative disorder

A mutation in the CLCN6 gene is associated with a novel, particularly severe neurodegenerative disorder. Scientists from the Leibniz-Forschungsinstitut für Molekulare Pharmakologie and the Max Delbrück Center für Molekulare Medizin, together with an international team of researchers, have now analyzed the effect of a point mutation that was found in three unrelated affected children.

19 Nov 2020

Researchers use neutrons to make first direct observations of water in lipid bilayers

New 3D maps of water distribution during cellular membrane fusion are accelerating scientific understanding of cell development, which could lead to new treatments for diseases associated with cell fusion.

21 Sep 2018

Rocket Pharma partners with Stanford University to advance FA and PKD gene therapy research

Rocket Pharmaceuticals, Inc., a leading U.S.-based multi-platform gene therapy company, and the Stanford University School of Medicine today announced a strategic collaboration to support the advancement of Fanconi Anemia and Pyruvate Kinase Deficiency gene therapy research.

17 May 2018

Mayo Clinic experts move closer to realizing clinical potential of senolytic drugs on aging

Researchers are moving closer to realizing the clinical potential of drugs that have previously been shown to support healthy aging in animals.

4 Sep 2017

Breakthrough study observes structural changes in carbonic anhydrase for first time

A new study by an international team of researchers, affiliated with Ulsan National Institute of Science and Technology has announced that they have succeeded for the first time in observing the structural changes in carbonic anhydrase.

24 May 2016

Gamma interferon may have potential to prevent Ebola infection

The recent Ebola outbreak in West Africa has claimed more than 11,300 lives and starkly revealed the lack of effective options for treating or preventing the disease. Progress has been made on developing vaccines, but there is still a need for antiviral therapies to protect health care workers and local populations in the event of future outbreaks.

18 Nov 2015

Saint Louis University receives NIH grant to investigate development of new drugs to treat bone diseases

David Griggs, Ph.D., director of biology at Saint Louis University's Center for World Health & Medicine, has received a $1 million R01 grant from the National Institutes of Health to investigate the development of what could be a new class of drugs to treat bone diseases.

30 Sep 2015

New article shows taxonomic classification of rare genetic bone disorders based on metabolic phenotypes

An International Osteoporosis Foundation Working Group on Skeletal Rare Diseases has published a new classification of rare genetic metabolic bone disorders (RGMBDs) according to their metabolic pathogenesis.

18 Jun 2015

Disorder in degradation of proteins and other macromolecules in cells leads to serious diseases

The degradation of proteins and other macromolecules in cells is vital to survival. Disruption of this process can result in serious disease. The research group of Professor Thomas Jentsch (Leibniz Institute for Molecular Pharmacology, FMP/ Max Delbr-ck Center for Molecular Medicine, MDC, Berlin-Buch) has now succeeded in identifying an essential cellular process necessary for the transport and degradation of macromolecules in endosomes and lysosomes, respectively.

16 Jun 2010

$Bone quality regulator identified - possible target for preventing and treating bone fractures$

Bone quality regulator identified - possible target for preventing and treating bone fractures

University of California - San Francisco (UCSF) scientists have determined that the quality of bone matrix, a key component of bone, is regulated by a molecule known as transforming growth factor beta.

13 Dec 2005