University of Manchester researchers, working with colleagues at the Stowers Institute for Medical Research in Kansas, have successfully treated mice with Treacher Collins syndrome – a rare genetic disorder characterised by underdeveloped facial bones, absent or deformed ears and occasionally cleft palate.
The team had previously found that the condition, which affects one in 10,000 individuals, was caused by a mutation in a single gene called TCOF1. They later discovered that this mutation causes cells, known as neural crest cells, to die prematurely in the early stages of pregnancy resulting in the facial anomalies.
Now, writing in the journal Nature Medicine, the researchers have shown that preventing the neural crest cells from dying allowed mice with the Treacher Collins gene to develop normally. The principle, say the authors, could also be applied to other single-gene birth defects.
“This is the first time that a congenital defect has been successfully treated and provides genuine hope within a realistic timeframe of one day preventing these conditions in humans,” said Professor Mike Dixon in Manchester’s Faculty of Life Sciences.
“The method we used to stop the cells dying had significant side-effects but there are other ways to prevent cell death and we are confident the next stage of our research will identify some safe methods.”
The anomalies caused by Treacher Collins syndrome, including underdeveloped jaw and cheek bones, occur during the first few weeks of pregnancy.
Since tests to identify the disorder in the unborn child can only be carried out at nine weeks, long after the damage has been done, any future treatment would have to target those babies most at risk.
“Treacher Collins is an inherited disorder, so the hope is we could use this method to prevent parents with the condition passing it on to their children,” said Professor Dixon.
“This is an exciting step in our investigations and, once we have found a safe method of stimulating the production of neural crest cells in mice, we can look at early clinical trials in humans.”
Aeron Haworth | alfa
Team discovers how bacteria exploit a chink in the body's armor
20.01.2017 | University of Illinois at Urbana-Champaign
Rabies viruses reveal wiring in transparent brains
19.01.2017 | Rheinische Friedrich-Wilhelms-Universität Bonn
An important step towards a completely new experimental access to quantum physics has been made at University of Konstanz. The team of scientists headed by...
Yersiniae cause severe intestinal infections. Studies using Yersinia pseudotuberculosis as a model organism aim to elucidate the infection mechanisms of these...
Researchers from the University of Hamburg in Germany, in collaboration with colleagues from the University of Aarhus in Denmark, have synthesized a new superconducting material by growing a few layers of an antiferromagnetic transition-metal chalcogenide on a bismuth-based topological insulator, both being non-superconducting materials.
While superconductivity and magnetism are generally believed to be mutually exclusive, surprisingly, in this new material, superconducting correlations...
Laser-driving of semimetals allows creating novel quasiparticle states within condensed matter systems and switching between different states on ultrafast time scales
Studying properties of fundamental particles in condensed matter systems is a promising approach to quantum field theory. Quasiparticles offer the opportunity...
Among the general public, solar thermal energy is currently associated with dark blue, rectangular collectors on building roofs. Technologies are needed for aesthetically high quality architecture which offer the architect more room for manoeuvre when it comes to low- and plus-energy buildings. With the “ArKol” project, researchers at Fraunhofer ISE together with partners are currently developing two façade collectors for solar thermal energy generation, which permit a high degree of design flexibility: a strip collector for opaque façade sections and a solar thermal blind for transparent sections. The current state of the two developments will be presented at the BAU 2017 trade fair.
As part of the “ArKol – development of architecturally highly integrated façade collectors with heat pipes” project, Fraunhofer ISE together with its partners...
19.01.2017 | Event News
10.01.2017 | Event News
09.01.2017 | Event News
20.01.2017 | Awards Funding
20.01.2017 | Materials Sciences
20.01.2017 | Life Sciences