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
New study: How does Europe become a leading player for software and IT services?
03.04.2017 | Fraunhofer-Institut für System- und Innovationsforschung (ISI)
Reusable carbon nanotubes could be the water filter of the future, says RIT study
30.03.2017 | Rochester Institute of Technology
An international team of physicists has monitored the scattering behaviour of electrons in a non-conducting material in real-time. Their insights could be beneficial for radiotherapy.
We can refer to electrons in non-conducting materials as ‘sluggish’. Typically, they remain fixed in a location, deep inside an atomic composite. It is hence...
Two-dimensional magnetic structures are regarded as a promising material for new types of data storage, since the magnetic properties of individual molecular building blocks can be investigated and modified. For the first time, researchers have now produced a wafer-thin ferrimagnet, in which molecules with different magnetic centers arrange themselves on a gold surface to form a checkerboard pattern. Scientists at the Swiss Nanoscience Institute at the University of Basel and the Paul Scherrer Institute published their findings in the journal Nature Communications.
Ferrimagnets are composed of two centers which are magnetized at different strengths and point in opposing directions. Two-dimensional, quasi-flat ferrimagnets...
An Australian-Chinese research team has created the world's thinnest hologram, paving the way towards the integration of 3D holography into everyday...
In the race to produce a quantum computer, a number of projects are seeking a way to create quantum bits -- or qubits -- that are stable, meaning they are not much affected by changes in their environment. This normally needs highly nonlinear non-dissipative elements capable of functioning at very low temperatures.
In pursuit of this goal, researchers at EPFL's Laboratory of Photonics and Quantum Measurements LPQM (STI/SB), have investigated a nonlinear graphene-based...
Dental plaque and the viscous brown slime in drainpipes are two familiar examples of bacterial biofilms. Removing such bacterial depositions from surfaces is...
23.05.2017 | Event News
22.05.2017 | Event News
17.05.2017 | Event News
23.05.2017 | Physics and Astronomy
23.05.2017 | Life Sciences
23.05.2017 | Medical Engineering