Posted by Fridrik Fridriksson on Thursday, August 16, 2018,
https://theconversation.com/clinicians-make-mistakes-about-intellectual-impairments-as-new-rett-syndrome-findings-show-95085
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Rett syndrome gene may play key role in adult brain
Posted by Fridrik Fridriksson on Monday, April 11, 2016,
https://spectrumnews.org/news/rett-syndrome-gene-may-play-key-role-in-adult-brain/
MeCP2, a gene associated with neurodevelopmental conditions such as Rett syndrome and autism, has an unexpectedly essential role in mature brains, a new mouse study suggests. The findings support the idea that delivering treatment in adulthood can treat symptoms of the condition.
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A Curable Brain Disorder?
Posted by Fridrik Fridriksson on Wednesday, March 30, 2016,
https://www.psychologytoday.com/blog/hormones-and-the-brain/201603/curable-brain-disorder
Rett syndrome is rare, but that doesn’t make it uninteresting. It’s the result of a mutation in one of the genes on the X chromosome (it’s called MeCP2). Whilst the MeCP2 protein is found all over the body, there’s much more of it in the brain. It acts by modifying the action of other genes: an epigenetic event. Although females have two X chromosomes, one is inactivated in each cell, so if they h...
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Þriðji styrkur RSRG afhentur til rannsókna á Rett syndrome
Posted by Fridrik Fridriksson on Thursday, October 3, 2013,
Rett Syndrome Rannsóknarsjóður Guðrúnar (RSRG) afhenti 28. ágúst 2013 þriðja styrk RSRG til rannsókna á Rett Syndrome, alls 6.684 pund til Rett Syndrome Research Trust UK.
Styrkfjárhæðin sem var afhent í ágúst er rausnarlegt framlagi frá Svölunum og vegleg Minningargjöf fjölskyldu Hilmars K. Björgvinssonar, frænda Guðrúnar. Styrktarfélags flugfreyja, Svölurnar, styrku sjóðinn um 1 milljón króna eða 5394 pund og fjölskylda Hilmars var svo yndisleg að vísa mi...
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Beating the odds, Rett syndrome
Posted by Fridrik Fridriksson on Thursday, October 3, 2013,
Rett syndrome, a genetic condition, is perhaps the worst childhood disability as it combines the symptoms of autism, cerebral palsy, Parkinson's disease, epilepsy and anxiety. One little girl with Rett is beating the odds with the help of her mother's strength and courage.
Dr. Bruce Hensel reports for NBC4 News at 5 p.m. on Oct. 2, 2013
http://www.nbclosangeles.com/on-air/as-seen-on/Beating-the-Odds_-One-Girl_s-Struggle-with-Rett-Syndrome_Los-Angeles-226240071.html Continue reading ...
First Pre-Clinical Gene Therapy Study to Reverse Rett Symptoms
Posted by Fridrik Fridriksson on Saturday, August 24, 2013,
The concept behind gene therapy is simple: deliver a healthy gene to compensate for one that is mutated. New research published today in the
Journal of Neuroscience suggests this approach may eventually be a feasible option to treat Rett Syndrome, the most disabling of the autism spectrum disorders. Gail Mandel, Ph.D., a Howard Hughes Investigator at Oregon Health and Sciences University, led the study. The Rett Syndrome Research Trust, with generous support from the Rett Syndrome Research Tr...
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Stóri bróði hleypur fyrir Guðrúnu systur sína - Fréttatíminn 16. ágúst 2013
Posted by Fridrik Fridriksson on Saturday, August 24, 2013,
Tekið var viðtal við foreldra Guðrúnar Sædal og stóra bróður hennar, Friðrik Sædal, og birt í Fréttatímanum þann 16. ágúst 2013 í tilefni af því að hann er að hlaupa fyrir Rannsóknarsjóð Guðrúnar í Reykjavíkurmaraþoninu þann 24. ágúst nk.
http://www.frettatiminn.is/daegurmal/draumurinn_er_ad_laekning_vid_rett_syndrome_finnist/ Continue reading ...
Cholesterol-Lowering Drugs Suppress Rett Symptoms
Posted by Fridrik Fridriksson on Thursday, August 15, 2013,
Rett Syndrome is a spectrum disorder with a broad range of symptom severity. Some girls can run, have some use of their hands and can speak in short sentences while others cannot even sit or manage to hold their head up. One reason for this variation is the child's own unique genetic make-up - in other words, variations in other genes that impact the severity of the Rett mutation. Identification of modifier genes has therefore been a critical component of RSRT's research program as the modif...
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Guðrún á forsíðu Fréttablaðsins, 9. mars 2013
Posted by Fridrik Fridriksson on Wednesday, June 26, 2013,
Þann 9. mars 2013, kom blaðamaður frá Fréttablaðinu í heimsókn og tók viðtal við fjölskyldu Guðrúnar Sædal.
http://vefblod.visir.is/index.php?netpaper=2206"Hún virtist fullkomlega heilbrigð í fyrstu en allt í einu hætti hún að tjá sig með sama hætti og áður, það hægðist á öllum þroska og persónuleikinn breyttist. Guðrún Sædal var fjögurra ára greind með hinn sjaldgæfa genasjúkdóm Rett-heilkenni."
http://www.visir.is/tjair-sig-mikid-med-augunum/article... Continue reading ...
Síðdegisútvarp Rásar 2 tók viðtal við foreldra Guðrúnar Sædal þann 29. maí 2013
Posted by Fridrik Fridriksson on Friday, May 31, 2013,
Friðrik Friðriksson og Bryndís María Leifsdóttir, foreldrar Guðrúnar, voru gestir Síðdegisútvarpsins og sögðu hlustendum meira af sjúkdómi Guðrúnar og starfi sjóðsins. Þau sögðu að daglegt líf með þessum vágesti væri kapphlaup við tímann og að þeirra helsta verkefni frá degi til dags væri að safna góðum minningum með Guðrúnu.
Hér má heyra viðtalið í síðdegisútvarpinu:
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http://www.ruv.is/mannlif/%E2%80%9Eerum-ad-safna-godum-minningum%E2%80%9CRett e...
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Svölurnar styrkja sjóðinn um eina milljón króna
Posted by Fridrik Fridriksson on Friday, May 31, 2013,
Svölurnar, góðgerðarfélag flugfreyja og flugþjóna, hafa afhent Rett Syndrome Rannsóknasjóði Guðrúnar einnar milljónar króna styrk til rannsókna á Rett-heilkenninu. Afhendingin fór fram í tengslum við aðalfund Svalanna sem fram fór nýverið. Sjóðurinn var stofnaður af foreldrum Guðrúnar Sædal Friðriksdóttur á mæðradaginn 2012, en hún er ein af örfáum íslenskum stúlkum sem ganga með sjúkdóminn.
Sjá nánar frétt á mbl.is:
http://www.mbl.is/frettir/innle... Continue reading ...
Annar styrkur sjóðsins afhentur Rett Syndrome Research Trust UK
Posted by Fridrik Fridriksson on Friday, March 1, 2013,
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...
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Fyrsti styrkur sjóðsins veittur Rett Syndrome Research Trust UK
Posted by Fridrik Fridriksson on Wednesday, December 12, 2012,
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...
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Justice for Rett Syndrome
Posted by Fridrik Fridriksson on Wednesday, October 24, 2012,
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...
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Morphological and functional reversal of phenotypes in a mouse model of Rett syndrome
Posted by Fridrik Fridriksson on Wednesday, October 24, 2012,
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....
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Fingolimod, a sphingosine-1 phosphate receptor modulator, increases BDNF levels and improves symptoms of a mouse model of Rett syndrome.
Posted by Fridrik Fridriksson on Wednesday, October 24, 2012,
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...
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Stem cell study identifies early issues in Rett syndrome
Posted by Fridrik Fridriksson on Friday, October 19, 2012,
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...
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Ketamine Treatment, reversing Rett Syndrome?
Posted by Fridrik Fridriksson on Wednesday, October 17, 2012,
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 ...
Linking epigenetics to human disease and Rett syndrome: the emerging novel and challenging concepts in MeCP2 research.
Posted by Fridrik Fridriksson on Wednesday, August 8, 2012,
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 ...
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Rett syndrome: basic features of visual processing-a pilot study of eye-tracking.
Posted by Fridrik Fridriksson on Wednesday, August 8, 2012,
Rett syndrome: basic features of visual processing-a pilot study of eye-tracking.
Source
Rett Syndrome Center, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York.
Abstract
Consistently observed "strong eye gaze" has not been validated as a means of communication in girls with Rett syndrome, ubiquitously affected by apraxia, unable to reply either verbally...