Researchers discover gene that causes rare disorder
Researchers from Newcastle University in the UK have ended a 15-year search for the gene that causes the rare Cornelia de Lange Syndrome. (CdLS).
CdLS affects just one in 40,000 live births but can be devastating, with affected youngsters having growth problems, missing or deformed limbs, gastro-intestinal disorders, seizures, cardiac problems, neurological, learning and behavioural difficulties and oro-dental issues.
Doctors in the USA and Europe knew that there was likely to be a rogue gene that caused the syndrome but despite more than 15 years of searching it hadn’t been found.
But there has now been a breakthrough by a team led by Professor Tom Strachan, at Newcastle University’s Institute of Human Genetics. They report in Nature Genetics that the gene has been located to chromosome five.
The findings have been confirmed by a simultaneous study carried out in the United States at the Children’s Hospital of Philadelphia.
Alan Peaford, chairman of the parent support group, The Cornelia de Lange Syndrome Foundation, said: This is fantastic news. Over the years we have had a number of false starts when we thought the gene had been found. Now, something like 50 percent of the samples being tested in Newcastle and Philadelphia show involvement of this gene. Work must now go on to develop the testing so we can identify the problem in a much wider sample.
It was important to have found the CdLS gene so we can confirm the diagnosis; understand it and improve existing therapies, as well as design new medical therapies.
It is believed that almost 1,000 people in the UK are affected by the condition.
The research at Newcastle almost came to a halt last year when nine years of funding came to an end. The team kept the project alive with a lottery grant from the community fund. The award for £145,094 over three years proved to be the lifeline the project needed.
Dr Birgit Brandt, Community Fund’s Research Grants Manager, said: The Community Fund would like to congratulate the Cornelia de Lange Foundation on its breakthrough. It is very fulfilling to see that Lottery money has made such a difference in this instance. One of the Research Grants programmes aim is to direct funds towards medical research which might not attract support from elsewhere.
Alan Peaford | alfa
The most recent press releases about innovation >>>
Die letzten 5 Focus-News des innovations-reports im Überblick:
Astronomers from Bonn and Tautenburg in Thuringia (Germany) used the 100-m radio telescope at Effelsberg to observe several galaxy clusters. At the edges of these large accumulations of dark matter, stellar systems (galaxies), hot gas, and charged particles, they found magnetic fields that are exceptionally ordered over distances of many million light years. This makes them the most extended magnetic fields in the universe known so far.
The results will be published on March 22 in the journal „Astronomy & Astrophysics“.
Galaxy clusters are the largest gravitationally bound structures in the universe. With a typical extent of about 10 million light years, i.e. 100 times the...
Researchers at the Goethe University Frankfurt, together with partners from the University of Tübingen in Germany and Queen Mary University as well as Francis Crick Institute from London (UK) have developed a novel technology to decipher the secret ubiquitin code.
Ubiquitin is a small protein that can be linked to other cellular proteins, thereby controlling and modulating their functions. The attachment occurs in many...
Layered 2D material improves efficiency for solar cells and LEDs
In the eternal search for next generation high-efficiency solar cells and LEDs, scientists at Los Alamos National Laboratory and their partners are creating...
Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are less stable. Now researchers at the Technical University of Munich (TUM) have, for the first time ever, produced a composite material combining silicon nanosheets and a polymer that is both UV-resistant and easy to process. This brings the scientists a significant step closer to industrial applications like flexible displays and photosensors.
Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are...
Enzymes behave differently in a test tube compared with the molecular scrum of a living cell. Chemists from the University of Basel have now been able to simulate these confined natural conditions in artificial vesicles for the first time. As reported in the academic journal Small, the results are offering better insight into the development of nanoreactors and artificial organelles.
Enzymes behave differently in a test tube compared with the molecular scrum of a living cell. Chemists from the University of Basel have now been able to...