Rett Syndrome Rannsóknarsjóður Guðrúnar

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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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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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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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

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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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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/


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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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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...
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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:
- http://www.ruv.is/mannlif/%E2%80%9Eerum-ad-safna-godum-minningum%E2%80%9C

Rett e...

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