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Intellectual impairments

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

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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/


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

Rett 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...
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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



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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,
Pediatr Neurol. 2012 Jul;47(1):25-9.

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...


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RTT-specific Growth Charts

Posted by Fridrik Fridriksson on Wednesday, August 8, 2012,
Rett Syndrome Growth Analysis. Alan Percy, MD

I am pleased to announce that the growth analysis emanating from the Natural History Study has been accepted for publication in the journal, Neurology. It should appear in paper form later this year, but will be published online in the near future. The full citation will include the following: Tarquinio D, Motil K, Hou W, Lee H, Glaze DG, Skinner SA, Neul JL, Annese F, McNair L, Barrish JO, Geerts SP, Lane JB, Percy AK. Growth Failure in Rett Syndr...
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Neuren Pursues New Drug for RTT

Posted by Fridrik Fridriksson on Wednesday, August 8, 2012,
Pursuing the first Investigational New Drug (IND) for Rett syndrome. Neuren Pharmaceuticals announces a program to the FDA about a proposed Rett syndrome clinical trial.

In May 2012 Neuren Pharmaceuticals Ltd held a pre-IND meeting with the FDA Division of Neurology Products to discuss clinical development plans for the NNZ-2566 Rett Syndrome program. The company requested the meeting to seek input and guidance from the FDA for the first clinical trial in older patients with Rett syndrome. The...
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Jóhann Torfi hleypur fyrir frænku sína, Guðrúnu Sædal :-)

Posted by Fridrik Fridriksson on Wednesday, July 4, 2012,

Jóhann Torfi Ólafsson hleypur fyrir frænku sína, Guðrúnu Sædal, í Reykjavíkur maraþoninu 2012. Fjölskyldan stofnaði rannsóknarsjóð Guðrúnar fyrir skemmstu og hvetur hann alla sem geta að hjálpa til.

http://hlaupastyrkur.is/hlaupid/keppandi?cid=6664




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Old and new entities with Rett or Angelman syndrome-like intellectual disability

Posted by Fridrik Fridriksson on Wednesday, July 4, 2012,
Following technical and methodological improvements of the last decade, the underlying genes of a number of syndromes involving severe intellectual disability resembling Angelman and Rett syndromes have been identified. In order to keep track with these new entities, this reprint of Molecular Syndromology 2011, Vol. 2, No. 3-5 provides comprehensive reviews of the state of clinical and genetic knowledge for the ‘old’ entities of Angelman and Rett syndromes, as well as the newer syndromes ...
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Pharmacological interference with the glucocorticoid system influences symptoms and lifespan in a mouse model of Rett syndrome.

Posted by Fridrik Fridriksson on Wednesday, July 4, 2012,
Rett syndrome (RTT) is caused by loss-of-function mutations in the X-linked gene MECP2 coding for methyl CpG-binding protein 2 (MeCP2). This protein can act as transcriptional repressor, and we showed in a previous study that glucocorticoid-inducible genes are up-regulated in an RTT mouse model and that these genes are direct MeCP2 targets. Here, we report that pharmacological intervention with the glucocorticoid system has an impact on the symptoms and lifespan in an RTT mouse model. Our dat...
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Nordic Conference on Rare Diseases, Reykjavík 31/5-1/6 2012

Posted by Fridrik Fridriksson on Wednesday, June 13, 2012,
Nordic Conference on Rare Diseases was held in Reykjavik, Iceland 31/5-1/6 2012. This was a very well coordinated conference which gave good insight into the importance of Nordic cooperation on healt issues, and especially on rare diseases. Even though the poupulation in the Nordic countries is about 25 million people, they are still small in relations to the larger countries in Europe. Cooperation on rare diseases is therefore crucial for research on rare diseases in the Nordic countries.

We ...
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Lýsi - Omega 3 - dregur úr einkennum Rett Syndrome

Posted by Fridrik Fridriksson on Thursday, April 12, 2012,

Partial rescue of Rett syndrome by ω-3 polyunsaturated fatty acids (PUFAs) oil.

Source

Neonatal Intensive Care Unit, University Hospital Azienda Ospedaliera Universitaria Senese (AOUS) of Siena, S. M. Le Scotte General Hospital, Viale M. Bracci, 16, 53100, Siena, Italy, geniente@gmail.com.

http://www.ncbi.nlm.nih.gov/pubmed/22399313

Abstract

Evidence of enhanced oxidative stress (O.S.) and lipid peroxidation has been reported in patients with Rett syndrome (RTT), a relatively rare neuro...


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Bone Marrow Transplant arrests symptoms in model of Rett Syndrome

Posted by Fridrik Fridriksson on Sunday, March 18, 2012,
Trumbull, CT, March 18, 2012 — A paper published online today in Nature describes the results of using a bone marrow transplant (BMT) to replace faulty immune system cells in models of Rett Syndrome. The procedure arrested many severe symptoms of the childhood disorder, including abnormal breathing and movement, and significantly extended the lifespan of Rett mouse models. Exploring the function of microglia deficient in methyl-CpG binding protein 2 (Mecp2), the protein encoded by the “Re...
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Girl Scout with Rett Syndrome finds voice through technology, Tobii

Posted by Fridrik Fridriksson on Monday, January 23, 2012,

AUSTIN, Texas -- An 8-year-old Girl Scout is overcoming her silence and finding her voice.

Saturday morning third grader Marion Buxton and Girl Scout Troop 110 sold cookies at the Walgreen’s store at Parmer and Metric.
Buxton has Rett Syndrome and is unable to speak on her own. However, last month she got a special device that helps her communicate. Saturday she helped fellow Girl Scouts ask customers whether they wanted to buy a box of Girl Scout cookies.

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Nordic Conference on Rare Diseases, May 31 and June 1, 2012

Posted by Fridrik Fridriksson on Wednesday, November 30, 2011,
Nordic Conference on Rare Diseases

Tthe 2nd Nordic Conference on Rare Diseases will be held in Reykjavik, Iceland,  May 31 and June 1, 2012

The meeting will focus on co-operation to improve knowledge within the Nordic countries regarding Rare Diseases.

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UAB researchers seek to reverse Rett syndrome in children

Posted by Fridrik Fridriksson on Thursday, November 17, 2011,

The study by researchers at the University of Alabama at Birmingham is part of mounting evidence that conditions from autism to Down syndrome need not last a lifetime.

“Our results suggest that the field is on the right track in early efforts to design a treatment for a devastating condition in Rett syndrome,” said Lucas Pozzo-Miller, Ph.D., professor of neurobiology at UAB and senior author of the paper. “They also provide the latest argument that correcting for the genetic miscues be...


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Viðtal við Guðrúnu Sædal, stelpuna okkar :-)

Posted by Fridrik Fridriksson on Monday, November 7, 2011,
Viðtal við Guðrúnu Sædal Friðriksdóttur, dóttur okkar á RÚV, 6. nóvember 2011.

http://www.ruv.is/frett/tugir-hafa-ekki-fengid-greiningu

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Transforming Drug Discovery

Posted by Fridrik Fridriksson on Friday, October 21, 2011,

Harvard Medical School launches major initiative to address crisis in drug development

Taking aim at the alarming slowdown in the development of new and lifesaving drugs, Harvard Medical School is launching an Initiative in Systems Pharmacology, a comprehensive strategy to transform drug discovery by convening biologists, chemists, pharmacologists, physicists, computer scientists and clinicians to explore together how drugs work in complex systems.

http://www.focushms.com/features/transformin...


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EU Court Strictly Limits Stem Cell Patents

Posted by Fridrik Fridriksson on Tuesday, October 18, 2011,
The European Court of Justice on Tuesday issued a ruling which prohibits the patenting of stem cells extracted from human embroyos. The verdict could have far-reaching implications for stem cell research in Europe, with critics calling it an "unbelievable setback."

http://www.spiegel.de/international/europe/0,1518,792506,00.html#ref=nlint

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Liver transplants could be a thing of the past as scientists grow working cells that correct genetic mutation

Posted by Fridrik Fridriksson on Tuesday, October 18, 2011,

British scientists have developed a new stem cell technique for growing working liver cells which could eventually avoid the need for costly and risky liver transplants.

A team of researchers led by the Sanger Institute and the University of Cambridge used cutting-edge methods to correct a genetic mutation in stem cells derived from a patient's skin biopsy, and then grew them into fresh liver cells.

By putting the new liver cells into mice, they showed they were fully functioning.

Allan...


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Make Mine Rare

Posted by Fridrik Fridriksson on Wednesday, September 14, 2011,
With mounting interest from biotechs, Big Pharma, and the federal government, research on rare diseases is burgeoning.

http://the-scientist.com/2011/08/01/make-mine-rare/
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Reynt að nota Desipramine chlorhydrate við meðferð á Rett Syndrome

Posted by Fridrik Fridriksson on Wednesday, September 14, 2011,
On 12 June 2009, orphan designation (EU/3/09/643) was granted by the European Commission to Targeon SAS, France, for desipramine chlorhydrate for the treatment of Rett syndrome.

Desipramine chlorhydrate has been used in the treatment of depression since the 1960s. In Rett syndrome, the medicine is expected to treat breathing problems.

Girls with Rett syndrome tend to have low levels of norepinephrine, a substance in the brain and spinal cord that helps maintain a normal breathing rhythm. Desipr...
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Making connections

Posted by Fridrik Fridriksson on Monday, September 12, 2011,
Making connections.
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Can Rett Syndrome be reversed?

Posted by Fridrik Fridriksson on Monday, September 12, 2011,

Can Rett Syndrome be reversed?


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