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.

Synthetic oil triheptanoin improves Rett syndrome, longevity

When young mice with the rodent equivalent of a rare autism spectrum disorder (ASD), called Rett syndrome, were fed a diet supplemented with the synthetic oil triheptanoin, they lived longer than mice on regular diets. Importantly, their physical and behavioral symptoms were also less severe after being on the diet, according to results of new research from The Johns Hopkins University.

10 Oct 2014

Rettsyndrome.Org awards $1.5M to advance translational research, support Neuro-Habilitation Program

The International Rett Syndrome Foundation now doing business as Rettsyndrome.org announces today that the Board of Trustees has awarded $1.5M to support 10 new grants to further translational research and launch of the neuro-habilitation therapeutic program, and fund clinical research.

19 Aug 2014

RSAM, Rettsyndrome.org renew commitment to defeat Rett syndrome

Rett Syndrome Association of Massachusetts and Rettsyndrome.org are thrilled to announce today their renewed commitment to work together to defeat Rett syndrome. A generous $150,000 donation from RSAM will support a Rettsyndrome.org approved grant to Dr. Michela Fagiolini's project at the Boston Children's Hospital: "Assessing NMDA receptor (NMDAr) modulators to ameliorate cortical regression in Rett syndrome".

7 Aug 2014

Combination of effective drugs for Parkinson's disease controls symptoms of Rett syndrome in mice

IDIBELL researchers, led by the director of the Program for Epigenetics and Cancer Biology, ICREA researcher and Professor of Genetics at the University of Barcelona, Manel Esteller, have shown that a combination of effective drugs for Parkinson's disease in mice that are used as a model of human Rett syndrome reduces some of the symptoms associated with this disease.

17 Jun 2014

Newron Pharmaceuticals submits safinamide NDA to FDA

Newron Pharmaceuticals S.p.A. ("Newron"), a research and development company focused on novel CNS and pain therapies, and its partner Zambon S.p.A., an international pharmaceutical company strongly committed to the CNS therapeutic area with a long experience in respiratory disease therapies, woman care and primary care, announce that the New Drug Application (NDA) for safinamide was submitted today to the US Food and Drug Administration (FDA).

30 May 2014

AAN review finds certain forms of medical marijuana can help treat some symptoms of MS

A review by the American Academy of Neurology of available scientific research on the use of medical marijuana in brain diseases finds certain forms of medical marijuana can help treat some symptoms of multiple sclerosis (MS), but do not appear to be helpful in treating drug-induced (levodopa) movements in Parkinson's disease.

29 Apr 2014

New drug for treating Rett syndrome is on the horizon

A powerful new drug which could relieve the symptoms of devastating childhood disease Rett syndrome is on the horizon thanks to a funding injection of -180,000.

10 Apr 2014

Nine fellows selected to receive Dennis Weatherstone Predoctoral Fellowship for next two years

Autism Speaks, the world's leading autism science and advocacy organization, today announced the sixth class of The Dennis Weatherstone Predoctoral Fellows funded by the Stavros Niarchos Foundation.

19 Mar 2014

IRSF announces new research grants for translational research program and clinical trials

The International Rett Syndrome Foundation (IRSF) announces today ten (10) new research grants at leading global research institutions; a new Translational Research Program; and additional funding for current human clinical trials.

24 Feb 2014

Researchers receive funding to develop treatments for Rett Syndrome

Researchers from Scotland and the US are taking a step towards reversing the effects of a debilitating genetic disease and bring hope to tens of thousands of sufferers worldwide.

14 Feb 2014

Johns Hopkins researchers reveal how non-CpG methylation may contribute to Rett Syndrome

In normal development, all cells turn off genes they don’t need, often by attaching a chemical methyl group to the DNA, a process called methylation. Historically, scientists believed methyl groups could only stick to a particular DNA sequence: a cytosine followed by a guanine, called CpG. But in recent years, they have been found on other sequences, and so-called non-CpG methylation has been found in stem cells, and in neurons in the brain.

28 Jan 2014

Autism Speaks grants $2.7M to develop potential treatments for ASD, increase access to high-quality early intervention

Autism Speaks, the world's leading autism science and advocacy organization, today announced the award of nearly $2.7 million for the funding of 13 new research projects over the next three years.

6 Jan 2014

Four U.S. researchers to receive grants to improve cognition in individuals living with Down syndrome

The Scientific Advisory Board of the Jerome Lejeune Foundation USA has recommended 4 U.S. researchers to receive grants from the Foundation for its second funding cycle of 2013.

15 Dec 2013

Researchers describe why current medications only moderately reduce Fragile X symptoms

When you experience something, neurons in the brain send chemical signals called neurotransmitters across synapses to receptors on other neurons. How well that process unfolds determines how you comprehend the experience and what behaviors might follow. In people with Fragile X syndrome, a third of whom are eventually diagnosed with Autism Spectrum Disorder, that process is severely hindered, leading to intellectual impairments and abnormal behaviors.

24 Oct 2013

Whitehead Institute researchers redefine gene mutation that cause Rett syndrome

Whitehead Institute researchers have redefined the function of a gene whose mutation causes Rett syndrome, a neurodevelopmental autism spectrum disorder. This new research offers an improved understanding of the defects found in the neurons of Rett syndrome patients and could lead to novel therapies for the disease.

4 Oct 2013

Bird Brains Shed Light On Speech Learning

A team of scientists have identified the neurons in the brains of songbirds that allow them to imitate vocal sounds.

5 Sep 2013

Scientists uncover neural mechanisms that may help in treatment of language disorders in children

USC scientists have discovered a population of neurons in the brains of juvenile songbirds that are necessary for allowing the birds to recognize the vocal sounds they are learning to imitate.

5 Sep 2013

Research suggests gene therapy approach may be feasible option to treat Rett Syndrome

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.

21 Aug 2013

Scientist receives prestigious USU Medal and 'Order of Military Medical Merit' awards from IRSF

The International Rett Syndrome Foundation (IRSF), the world's largest and most comprehensive not-for-profit organization that funds novel research for treatments and a cure for Rett syndrome, has announced that Steven G. Kaminsky, Ph.D., received two incredibly prestigious awards at the 2013 Annual Family Conference in Midway, Utah this past June.

8 Aug 2013

Statins: A class of cholesterol-lowering drugs may help treat Rett Syndrome

Statins, a class of cholesterol-lowering drugs found in millions of medicine cabinets, may help treat Rett Syndrome, according to a study published today in Nature Genetics. The Rett Syndrome Research Trust (RSRT) funded this work with generous support from the Rett Syndrome Research Trust UK and Rett Syndrome Research & Treatment Foundation.

30 Jul 2013