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.

New drug reduces symptoms of Rett syndrome in preclinical models

A new article published in the Cell Reports describes how a new drug is able to reduce the symptoms and activate the dormant neurons characteristic of Rett Syndrome in preclinical models.

14 May 2018

Researchers reverse symptoms associated with Rett syndrome in mouse model

It is a parent's nightmare: a child is born apparently healthy, then stops meeting developmental milestones at one year old. Her verbal and motor skills vanish, and irregular breathing, seizures, and a host of other problems appear.

29 Jan 2018

MGH study points toward potential strategy for treating X-linked disorders

A study from a team of Massachusetts General Hospital (MGH) investigators points toward a potential strategy for treating X-linked disorders - those caused by mutations in the X chromosome - in females.

4 Jan 2018

Drug used to prevent and treat malaria may also be effective for Zika virus

A new collaborative study led by researchers at Sanford Burnham Prebys Medical Discovery Institute and UC San Diego School of Medicine has found that a medication used to prevent and treat malaria may also be effective for Zika virus.

17 Nov 2017

Using Machine Learning to Accurately Diagnose Childhood Autism Sooner

Autism is a clinical diagnosis. There is no one test to diagnose autism. Depending on the type of medical professional diagnosing, typically the DSM-V (standard classification of mental disorders used by mental health professionals in the U.S.) is used to diagnose by primary care physicians, neurologists, and psychiatrists.

30 Oct 2017

Phase 3 clinical trial for compound that shows promise in treatment of Rett syndrome

Rettsyndrome.org is pleased to share that Neuren Pharmaceuticals, today, after meeting with the FDA, will conduct a Phase 3 clinical trial for trofinetide, a compound that shows great promise in the treatment of Rett syndrome, in children and adults.

13 Oct 2017

New strategy allows researchers to identify potential treatments for altered levels of MeCP2

Having twice the normal amount of the protein MeCP2, a condition called MECP2 duplication syndrome, causes severe progressive neuropsychiatric disorders that include intellectual disability, autism spectrum disorders, motor dysfunction and other medical complications.

24 Aug 2017

Researchers use small molecule to relieve symptoms of Rett syndrome in mouse model

Vanderbilt University researchers have relieved symptoms of Rett syndrome in a mouse model with a small molecule that works like the dimmer switch in an electrical circuit.

23 Aug 2017

Small-molecule drug improves brain performance in mouse model of Rett syndrome

After learning that a small-molecule drug improves breathing in a mouse model of the neurodevelopmental disorder Rett syndrome, University of Alabama at Birmingham researcher Lucas Pozzo-Miller, Ph.D., wondered if he could test it on other brain functions.

28 Jul 2017

Scientists manage to permeate living cells with small antibodies

Scientists at the Technische Universität Darmstadt, Ludwig Maximilians University Munich and the Leibniz Institute for Molecular Pharmacology have managed to introduce tiny antibodies into living cells. The researchers now report on the synthesis and applications for these nanobodies in "Nature Chemistry".

19 Jul 2017

Study opens new range of therapeutic options for patients with atypical Rett syndrome

A translational, multicenter study carried out by research groups of the Bellvitge Biomedical Research Institute, San Juan de Dios Hospital, the University of Barcelona, Clinic Hospital, the University of Vic, Santa Creu i Sant Pau Hospital and the thematic area of Rare Diseases, has unveiled the potential of D-serine -- a dietary supplement -- to improve the neuronal function of a patient with a mutation of the glutamate receptors associated to atypical Rett syndrome with severe encephalopathy.

4 Jul 2017

Researchers discover genes that could serve as therapeutic targets to reverse Rett syndrome

Researchers have uncovered 30 genes that could, one day, serve as therapeutic targets to reverse Rett syndrome, a rare neurological disorder that affects only girls and is a severe form of an autism spectrum disorder.

31 Jan 2017

Researchers show how adult learning is impaired in females using mouse models of Rett syndrome

Neurodevelopmental disorders like autism very likely have their origin at the dawn of life, with the emergence of inappropriate connectivity between nerve cells in the brain.

19 Jan 2017

Specific gene pathway appears to regulate growth, structure, and organization of cerebral cortex

One of the most significant ways in which the human brain is unique is the size and structure of the cerebral cortex. But what drives the growth of the human cortex, likely the foundation for our unique intellectual abilities?

30 Dec 2016

Experts to examine impact of live music on health and morbidity in children with learning disabilities

Experts in the fields of music, education, neurology, psychiatry and psychology will gather at a conference at the Royal Society of Medicine in London on Monday 28 November to examine the current evidence for the value and impact of music interventions, especially live music, on health and morbidity in children with learning disabilities.

15 Nov 2016

Researchers identify process in the brains of mice that may explain repetitive actions in Rett patients

Three-year-old Naomi slaps her forehead a few times, bites her fingers and toddles across the doctor's office in her white and pink pajamas before turning her head into a door with a dull thud.

27 Sep 2016

Skin cells derived from autistic donors grow faster than those from control subjects

Brain cells grow faster in children with some forms of autism due to distinct changes in core cell signaling patterns, according to research from the laboratory of Anthony Wynshaw-Boris, MD, PhD, chair of the department of genetics and genome sciences at Case Western Reserve University School of Medicine.

28 Aug 2016

Rett Syndrome News and Research

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