Rett Syndrome News and Research

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Rett syndrome is a neurological and developmental disorder that mostly occurs in females. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. For instance, they stop talking even though they used to say certain words. They lose their ability to walk properly. They stop using their hands to do things and often develop stereotyped hand movements, such as wringing, clapping, or patting their hands. Rett syndrome is considered one of the autism spectrum disorders. Most cases of Rett syndrome are caused by a mutation on the MECP2 gene, which is found on the X chromosome.

Researchers reveal ways to halt Rett Syndrome

In a study published today in the Journal, Proceedings of the National Academy of Sciences, an international team of researchers based in the U.S. and UK revealed that they were able to halt the potentially lethal, breath holding episodes associated with the neurological disease Rett syndrome.

5 Oct 2010

IRSF awards $1.5M in research grants for Rett syndrome treatment

The International Rett Syndrome Foundation (IRSF) announced today that it will award an additional $1.5M in research grants, bringing the 2010 total to $2.15 million for innovative basic and translational research that moves treatments for Rett syndrome a step closer to the clinic.

4 Oct 2010

Research on iPS cells can imply potential cell therapy for X-linked disorders

Female induced pluripotent stem (iPS) cells, reprogrammed from human skin cells into cells that have the embryonic-like potential to become any cell in the body, retain an inactive X chromosome, stem cell researchers at UCLA have found.

4 Sep 2010

MeCP2 protein regulates properties of psychostimulant drugs: Research

When a certain protein is mutated or missing, symptoms of the neurodevelopmental disorder Rett syndrome arise, causing a gradual loss of brain function during early development.This fact led Duke University Medical Center researchers to test a theory that the protein might also contribute to nerve-cell connection (synapse) changes in a fully formed adult mouse brain when exposed to psychostimulant use.

16 Aug 2010

MagnaCare social networking campaigns raise awareness of personal health, preventive care

MagnaCare, a health plan services company with national reach, today announces that its ongoing social networking campaigns are successfully raising awareness of the importance of personal health improvement and preventive care, emphasizing issues that sometimes fall between the cracks of larger causes, and advancing the MagnaCare commitment to "Care Right Here."

13 Jul 2010

Subtle mutation affecting epigenome may lead to inherited form of mental retardation: Researchers

A subtle mutation affecting the epigenome –- a set of dynamic factors that influence gene activity -- may lead to an inherited form of mental retardation that affects boys, find researchers at Children's Hospital Boston. The disorder, which also involves cleft lip or cleft palate, appears to hinge on an enzyme working in a biological pathway that may offer several potential drug targets.

12 Jul 2010

IRSF reports record turn-out at 11th Annual Rett syndrome Symposium

IRSF's 11th Annual Rett syndrome Symposium held June 27, 28, and 29 in Leesburg, Virginia brought together leading scientists and researchers in the fields of neurobiology from around the globe who are attempting to demystify Rett syndrome. About 25 presenters led a day and a half of in-depth sessions attended by nearly 150 investigators and scientists, volunteers, families affected by the disease and IRSF staff.

3 Jul 2010

World's largest autism science and advocacy organization awards 16 new research grants

Autism Speaks, the world's largest autism science and advocacy organization, today announced the awarding of 16 new research grants totaling $5,223,743 over the next three years.

9 Apr 2010

Melior Discovery, Rett Syndrome Research Trust collaborate to screen drug-candidates

Melior Discovery, Inc. announced today that it has entered into collaboration with the Rett Syndrome Research Trust to screen drug-candidates in an in vivo model of Rett Syndrome.

31 Mar 2010

Protein deficiency in Down syndrome patients could contribute to cognitive impairment and congenital heart defects

Conventional wisdom among scientists for years has suggested that because individuals with Down syndrome have an extra chromosome, the disorder most likely results from the presence of too many genes or proteins contained in that additional structure.

24 Mar 2010

Mutations in MeCP2 cause autism spectrum disorder Rett Syndrome

A paper published online today in Molecular Cell proposes that Methyl CpG binding protein 2 (MeCP2) impacts the entire genome in neurons, rather than acting as a regulator of specific genes. Mutations in MeCP2 cause the autism spectrum disorder Rett Syndrome as well as some cases of neuropsychiatric problems including autism, schizophrenia and learning disabilities.

26 Feb 2010

Study: Common underlying mechanism causes complex defects in brain development and function

A new study reveals that a common underlying mechanism is shared by a group of previously unrelated disorders which all cause complex defects in brain development and function. Rett syndrome (RTT), Cornelia de Lange syndrome (CdLS) and Alpha-Thalassemia mental Retardation, X-linked syndrome (ATR-X) have each been linked with distinct abnormalities in chromatin, the spools of proteins and DNA that make up chromosomes and control how genetic information is read in a cell.

16 Feb 2010

IRSF announces first 2010 ANGEL Grant for testing potential Rett Syndrome therapies

Today, the International Rett Syndrome Foundation (IRSF) announced that it will commit $446,000 in 2010 to fund a large translational research program to test potential therapeutics for Rett Syndrome in mouse models of the disease. The funds will be awarded through the IRSF's new Advanced Neurotherapeutic Grant of Excellence (ANGEL) mechanism which seeks to provide funds for translational research. IRSF is the world's largest private source of Rett syndrome research funding, supporting nearly $21 million in research programs to date. This is the first ANGEL Grant supported by IRSF in 2010.

28 Jan 2010

Major fundraising initiative launched for Rett syndrome research

Inspired by recent breakthroughs in research, today the International Rett Syndrome Foundation (IRSF) announced a major fundraising initiative entitled Research to Reality: Funding Progress. Funds raised by the campaign are earmarked to accelerate the progress of crucial research, and bring promise to reality. Country music sensation Clint Black, whose niece Courtney lost her battle with Rett syndrome in 2003 at age 16, will serve as Honorary Chair of the campaign.

26 Oct 2009

Research to explore diagnosis and treatment of rare diseases

The National Institutes of Health announced today a second phase of the Rare Diseases Clinical Research Network (RDCRN) including funds for 19 research consortia.

7 Oct 2009

IRSF awards $2M for research into a cure for Rett syndrome

The International Rett Syndrome Foundation (IRSF) announced today that it is awarding grants totaling $2 million to support 18 innovative research projects in 2009. Each project will explore bold new ideas that have the potential to drive the field forward and speed the translation of research into treatments and a cure for Rett syndrome.

3 Oct 2009

IRSF announces funding of new clinical study with disease-modifying therapy treatment for Rett syndrome

Today, the International Rett Syndrome Foundation announced that it will provide $200,000 in 2009 to support a newly proposed clinical trial with a growth-factor based treatment for Rett Syndrome. The study will be carried out by a team of clinical trials specialists at the Boston Children's Hospital, led by Dr. Omar Khwaja MD, PhD and will be the first potentially disease modifying therapy ever to be tested in Rett syndrome patients.

22 Sep 2009

New vaccine technology may prove beneficial for treating IGF-1 responsive disorders

Braasch Biotech LLC announces its lead vaccine for Obesity, Growth Hormone Deficiencies may have beneficial use for numerous IGF-1 responsive disorders such as diabetes, heart disease and Rett Syndrome based on initial preclinical testing in a mouse model.

1 Sep 2009

Another gene found for Rett syndrome

New research has revealed another gene for Rett syndrome which could lead to new treatments for the disorder.

22 Apr 2009

Potential new target for treatment of Rett syndrome

A research collaboration between Australia and Israel has identified a genetic variation that influences the severity of symptoms in Rett syndrome.

20 Apr 2009