Ten European and one Australian partner organisations, led by Dr Mike Briggs from The University of Manchester, will investigate some of the most common bone disorders that lead to short stature.
Earlier research by the various groups had identified the genetic mutations that cause some of the conditions associated with dwarfism. The collaborators now intend to use this unprecedented experimental resource in the form of 10 genetic disease models to take their work to the next stage of development.
“There are more than 200 unique and well-characterised types of bone disorder, ranging in severity from relatively mild to severe and lethal forms,” said Dr Briggs, who is based in Manchester’s Faculty of Life Sciences.
“Although individually rare, as a group of diseases they have a combined incidence of more than one in 4,000.
“This is an exciting project that brings together an international group of experts to hopefully rapidly advance our knowledge of the genetic causes of dwarfism.
“By the end of this research we hope to have identified the major molecular problems that cause these disorders and to be much closer to identifying potential therapeutic targets.”
The research project – called EuroGrow – is funded by a European Union grant of €3.14m plus €500K from the Australian Medical Research Council.
Investigations will concentrate on the most common causes of dwarfism, including achondroplasia, which affects as many as one in every 10,000 children.
Other disorders to be targeted include pseudoachondroplasia and spondyloepiphyseal dysplasia congenita, which both manifest with severe arthritis in adulthood.
“In the shorter term our research will help in the better diagnosis and prognosis of these disorders,” said Dr Briggs. “However, our long-term goal will be to find treatments for these disorders.
“In terms of progress towards this longer-term objective, it is unlikely we will be able to help this generation but we are confident such therapies will be available to the next generation. Certainly, the genetic models we now have will prove extremely useful in helping us to achieve this goal.”
Aeron Haworth | alfa
Amputees can learn to control a robotic arm with their minds
28.11.2017 | University of Chicago Medical Center
The importance of biodiversity in forests could increase due to climate change
17.11.2017 | Deutsches Zentrum für integrative Biodiversitätsforschung (iDiv) Halle-Jena-Leipzig
MPQ scientists achieve long storage times for photonic quantum bits which break the lower bound for direct teleportation in a global quantum network.
Concerning the development of quantum memories for the realization of global quantum networks, scientists of the Quantum Dynamics Division led by Professor...
Researchers have developed a water cloaking concept based on electromagnetic forces that could eliminate an object's wake, greatly reducing its drag while...
Tiny pores at a cell's entryway act as miniature bouncers, letting in some electrically charged atoms--ions--but blocking others. Operating as exquisitely sensitive filters, these "ion channels" play a critical role in biological functions such as muscle contraction and the firing of brain cells.
To rapidly transport the right ions through the cell membrane, the tiny channels rely on a complex interplay between the ions and surrounding molecules,...
The miniaturization of the current technology of storage media is hindered by fundamental limits of quantum mechanics. A new approach consists in using so-called spin-crossover molecules as the smallest possible storage unit. Similar to normal hard drives, these special molecules can save information via their magnetic state. A research team from Kiel University has now managed to successfully place a new class of spin-crossover molecules onto a surface and to improve the molecule’s storage capacity. The storage density of conventional hard drives could therefore theoretically be increased by more than one hundred fold. The study has been published in the scientific journal Nano Letters.
Over the past few years, the building blocks of storage media have gotten ever smaller. But further miniaturization of the current technology is hindered by...
With innovative experiments, researchers at the Helmholtz-Zentrums Geesthacht and the Technical University Hamburg unravel why tiny metallic structures are extremely strong
Light-weight and simultaneously strong – porous metallic nanomaterials promise interesting applications as, for instance, for future aeroplanes with enhanced...
11.12.2017 | Event News
08.12.2017 | Event News
07.12.2017 | Event News
14.12.2017 | Health and Medicine
14.12.2017 | Physics and Astronomy
14.12.2017 | Life Sciences