Á alþjóðlegum degi sjaldgæfra sjúkdóma þann 28. febrúar sl., afhenti RSRG styrk til rannsókna á Rett Syndrome, alls 307.360 kr. eða 1.600 pund til Rett Syndrome Research Trust UK.

Peningunum var safnað með áheitum í Reykjavíkurmaraþoni síðastliðið sumar og frá fólki sem að styrkti sjóðinn á aðventunni í stað þess að senda jólakort. Það voru þeir Jóhann Torfi frændi Guðrúnar og Geir Arnar vinur okkar sem hlupu fyrir Guðrúnu sl. sumar.

Við viljum koma...

Continue reading...

Rett Syndrome Rannsóknarsjóður Guðrúnar veitti 1.400 punda styrk til rannsóknar á beinmergsskiptum til að þróa mögulega lækningu við Rett Syndrome, en engin lækning er til við sjúkdómnum í dag. Beinmergsrannsóknin er unnin á vegum Jonathan Kipnis en hann hefur sýnt fram á með rannsóknum á sýktum músum að með beinmergsskiptum hefur tekist að snúa við næstum öllum sjúkdómseinkennum Rett Syndrome. Móðir Guðrúnar, Bryndís María afhenti styrkinn til Rett S...

Continue reading...

By Eduardo Reyes

In my day job as a journalist I've just finished writing a story about a just outcome -the Home Secretary stood up in the House of Commons and announced she was blocking the extradition of the 'Pentagon Hacker' a man who has Aspergers.

For ten years now the people who stood with him - his remarkable mother, his lawyers and many, many more - have done serious and difficult things to support him, to keep him in the UK. They mixed hope and love with concrete and clever things to g...

Continue reading...

Rett syndrome is a neurological disorder caused by mutation of the X-linked MECP2 gene. Mice lacking functional Mecp2 display a spectrum of Rett syndrome-like signs, including disturbances in motor function and abnormal patterns of breathing, accompanied by structural defects in central motor areas and the brainstem. Although routinely classified as a neurodevelopmental disorder, many aspects of the mouse phenotype can be effectively reversed by activation of a quiescent Mecp2 gene in adults....
Continue reading...

The functional relevance of brain-derived neurotrophic factor (BDNF) is beginning to be well appreciated not only in mice, but also in humans. Because reduced levels typically correlate with impaired neuronal function, increasing BDNF levels with well-tolerated drugs diffusing into the central nervous system may help in ameliorating functional deficits. With this objective in mind, we used the sphingosine-1 phosphate receptor agonist fingolimod, a drug that crosses the blood-brain barrier. In...
Continue reading...

Neural stem cells from people with Rett syndrome show early signs of dysfunction, according to unpublished research presented at the 2012 Society for Neuroscience annual meeting in New Orleans. The results come from a comprehensive analysis of protein expression in neural progenitor cells, which mark the developmental stage between stem cells and neurons.

“What we’re trying to do is see if we can find the earliest molecular changes in patient-derived stem cells,” says senior investigat...

Continue reading...

Monica Coenraads, Executive Director of the Rett Syndrome Research Trust, interviews David Katz, PhD about his Journal of Neuroscience paper published 10/3/2012 and entitled "Brain Activity Mapping in Mecp2 Mutant Mice Reveals Functional Deficits in Forebrain Circuits, Including Key Nodes in the Default Mode Network, that are Reversed with Ketamine Treatment"

http://vimeo.com/51007197


Continue reading...

Epigenetics refer to inheritable changes beyond DNA sequence that control cell identity and morphology. Epigenetics play key roles in development and cell fate commitments and highly impact the etiology of many human diseases. A well-known link between epigenetics and human disease is the X-linked MECP2 gene, mutations in which lead to the neurological disorder, Rett Syndrome. Despite the fact that MeCP2 was discovered about 20 years ago, our current knowledge about its molecular function is ...
Continue reading...