New drug target for Rett syndrome
(Harvard Medical School) Harvard Stem Cell Institute researchers have identified a faulty signaling pathway that, when corrected, in mice ameliorates the symptoms of Rett syndrome, a devastating neurological condition. The findings could lead to the discovery of compounds or drugs that may benefit children affected by the disease, says neurobiologist Jeffrey Macklis, Max and Anne Wien Professor of Life Sciences in the Department of Stem Cell and Regenerative Biology, and Center for Brain Science, at Harvard University, who directed the work. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - February 2, 2016 Category: Global & Universal Source Type: news

'Autistic' monkeys created in controversial study
ConclusionThis animal study genetically modified monkeys to carry the MECP2 gene to assess whether they would exhibit autism-like behaviours and pass this gene on to offspring.  The researchers found that the modified monkeys did show some autism-like behaviours, namely an increase in repetitive circular motion, increased anxiety and reduced social interaction. It has been welcomed by some experts in the field, who feel this is potentially very important and could allow greater understanding of autism. However, as mentioned, other experts have argued that while the research is impressive in terms of technical expertise, s...
Source: NHS News Feed - January 26, 2016 Category: Consumer Health News Tags: Neurology Mental health Medical practice Source Type: news

Toddler with Rett syndrome sees her development 'going backwards'
Queensland's Marc and Dana Beckett's daughter, two-year-old Maika, has Rett syndrome. The rare condition means she will not be able to walk or talk, and her development has gone backwards. (Source: the Mail online | Health)
Source: the Mail online | Health - January 20, 2016 Category: Consumer Health News Source Type: news

What Types of Hand Stereotypies are Associated with Rett Syndrome?
Discussion Lady MacBeth and patients with Rett Syndrome (RS) are obviously not alike other than in making similar hand motions. In Shakespeare’s MacBeth (5.1.25-30), Lady MacBeth was driven into madness because of her murderous guilt and tries to wash the blood off her hands as she sleepwalks. Doctor. What is it she does now? Look, how she rubs/ her hands. Gentlewoman. It is an accustomed action with her, to seem thus/ washing her hands. I have known her continue in this/ a quarter of an hour. In 1954, Dr. Andreas Rett observed 2 girls who were also making repetitive handwashing motions and later published a cas...
Source: PediatricEducation.org - January 11, 2016 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

Rettsyndrome.org invests $65,000 to support additional sites for natural history study
(International Rett Syndrome Foundation) Last year, the NIH National Center for Advancing Translational Science Rare Diseases Clinical Research Network funded the development of a consortium made up of 11 sites to study the natural history of Rett syndrome, MECP2 Duplication, CDKL5 disorder, and FOXG1 syndrome under their strong belief that collaborative activities are necessary to advance rare disease research. As a private rare disease foundation, Rettsyndrome.org knows that the benefits of partnering with other organizations dedicated to MECP2 and related disorders research are immeasurable. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - December 22, 2015 Category: Global & Universal Source Type: news

MECP2 duplication syndrome is reversible
(Rett Syndrome Research Trust) Research led by Huda Zoghbi, M.D., at Baylor College of Medicine and HHMI and published today in the journal Nature reveals that the MECP2 Duplication Syndrome is reversible. Importantly the study paves the way for treating duplication patients with an antisense oligonucleotide strategy. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - November 25, 2015 Category: Global & Universal Source Type: news

Rett Syndrome Association of Massachusetts and Rettsyndrome.org continue their partnership
(International Rett Syndrome Foundation) The Rett Syndrome Association of Massachusetts and Rettsyndrome.org announce today their renewed commitment to work together to defeat Rett syndrome. A generous $85,000 donation from RSAM will support an ongoing clinical trial for Rettsyndrome.org at Boston Children's Hospital. The trial is funded by a Rettsyndrome.org ANGEL grant to Dr. Walter Kaufmann for a Phase 2b clinical study of IGF-1. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - August 12, 2015 Category: Global & Universal Source Type: news

Running To Overcome A Disease: One Family's Battle With Rett Syndrome
Until she was 18 months old, Maria Ferre was a healthy baby. Suddenly, she was struck with Rett syndrome, a physically debilitating condition that affects approximately 1 in 15,000 female children worldwide. Symptoms of Rett syndrome include loss of speech and motor control. In Maria’s case, it resulted in extreme disability. Faced with the powerlessness that accompanies fighting a condition without a cure and without widespread public attention, her father, Josele, turned to his passion to help raise awareness. He started running marathons with his daughter, pushing her in a stroller, while the wind caressed her face,...
Source: Healthy Living - The Huffington Post - August 7, 2015 Category: Consumer Health News Source Type: news

A cause of mental retardation, autism discovered
The term intellectual disability covers a large number of clinical entities, some with known cause and others of uncertain origin. For example Down syndrome is due to an extra copy of chromosome 21 and Rett syndrome is in part caused by a mutation in the control switch gene called MeCP2. In other cases the mechanisms by which they are produced are not clearly identified. Now a research team has discovered a mechanism that identifies a cause of intellectual disabilities in these puzzling cases. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - July 20, 2015 Category: Science Source Type: news

Discovered a cause of mental retardation and autism
(IDIBELL-Bellvitge Biomedical Research Institute) The term intellectual disability covers a large number of clinical entities, some with known cause and others of uncertain origin. For example Down syndrome is due to an extra copy of chromosome 21 and Rett syndrome is in part caused by a mutation in the control switch gene called MeCP2. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - July 20, 2015 Category: Biology Source Type: news

Rettsyndrome.org announces new 2015 Translational Research Awards
(International Rett Syndrome Foundation) Rettsyndrome.org announces today that the Board of Trustees has awarded $1M to launch the Read-Through Program, further translational research in the area of neuro-habilitation, and fund clinical research. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - June 25, 2015 Category: Global & Universal Source Type: news

Lily cannot walk or talk due to cruel genetic disease Rett syndromen
Lily Hall, from Surrey, has Rett syndrome - a rare, life-limiting, genetic condition which has stopped her development in its tracks - meaning she will never be able to walk or talk. (Source: the Mail online | Health)
Source: the Mail online | Health - June 23, 2015 Category: Consumer Health News Source Type: news

New Drug for Rett Syndrome?New Drug for Rett Syndrome?
Research shows that a new investigational drug is safe, well tolerated, and effective in managing core symptoms of this neurodegenerative genetic disorder. Medscape Medical News (Source: Medscape Neurology and Neurosurgery Headlines)
Source: Medscape Neurology and Neurosurgery Headlines - June 22, 2015 Category: Neurology Tags: Neurology & Neurosurgery News Source Type: news

#Dance4Rett and Rettsyndrome.org Raising Awareness and Funding for...
Viral campaign started by parents of girls with Rett syndrome builds community and momentum toward treatments.(PRWeb May 15, 2015)Read the full story at http://www.prweb.com/releases/2015/05/prweb12726116.htm (Source: PRWeb: Medical Pharmaceuticals)
Source: PRWeb: Medical Pharmaceuticals - May 16, 2015 Category: Pharmaceuticals Source Type: news

New research implicates immune system in Rett syndrome
The immune system plays an unsuspected and surprising role in the progression of Rett syndrome, a severe neurological disorder affecting children, new research suggests. Rett syndrome is a neurodevelopmental disorder that is caused primarily by mutations in the gene encoding for MeCP2, an important epigenetic regulator. Children with the disorder appear to develop normally but begin to lose acquired cognitive and motor skills at 6 to 18 months of age as symptoms start to show. As they age, patients are unable to acquire verbal skills and suffer from lack of motor control. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - May 11, 2015 Category: Science Source Type: news