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 solve a long-held mystery of X chromosome inactivation

Researchers at Massachusetts General Hospital (MGH) have solved a mystery that has long puzzled scientists: How do the bodies of female humans and all other mammals decide which of the two X chromosomes it carries in each cell should be active and which one should be silent?

18 Aug 2020

New maps of chemical marks on DNA could help illuminate the causes of developmental disorders

In research that aims to illuminate the causes of human developmental disorders, Salk scientists have generated 168 new maps of chemical marks on strands of DNA--called methylation--in developing mice.

29 Jul 2020

RNA editing may repair the underlying cause of Rett Syndrome in mouse model

A genomic error that causes Rett Syndrome, a serious lifelong neurological disorder, can be corrected in the brains of mice by rewriting the genetic instructions carried by the RNA.

15 Jul 2020

MGH researchers identify key mechanism in X chromosome inactivation

Researchers at Massachusetts General Hospital have identified a key mechanism in X chromosome inactivation, a phenomenon that may hold clues that lead to treatments for certain rare congenital disorders.

12 Jun 2020

Gene mutation linked to MEF2C haploinsufficiency syndrome

A collaboration between scientists at the Medical University of South Carolina and clinicians at the Greenwood Genetic Center has yielded new findings about how a particular gene might regulate brain development.

19 May 2020

Foxg1 gene works like a molecular knob to control neocortical activity

It works like a very fine "molecular knob" able to modulate the electrical activity of the neurons of our cerebral cortex, crucial to the functioning of our brain.

8 May 2020

Recognizing CDKL5 Deficiency Disorder

News-Medical speaks to Dr. Dan Lavery about the LouLou Foundation, a non-profit organization dedicated to CDLK5 Deficiency Disorder.

17 Mar 2020

Study reveals the neural basis of sensory hypersensitivity in people with autism

Many people with autism spectrum disorders are highly sensitive to light, noise, and other sensory input. A new study in mice reveals a neural circuit that appears to underlie this hypersensitivity, offering a possible strategy for developing new treatments.

2 Mar 2020

Experimental drug offers hope for improving movement symptoms of Parkinson's

Results from a study looking at an experimental drug to tackle the debilitating side effect of dyskinesia, have offered hope that it may have potential as a future treatment for people with Parkinson's.

2 Mar 2020

Researchers examine abnormal neuron activity in Rett syndrome

The brain undergoes dramatic change during the first years of life. Its circuits readily rewire as an infant and then child encounters new sights and sounds, taking in the world and learning to understand it. As the child matures and key developmental periods pass, the brain becomes less malleable--but certain experiences create opportunities for parts of the adult brain to rewire and learn again.

29 Jan 2020

Findings may lead to potential therapeutic strategies for rare neurodevelopmental disorder

9 Jan 2020

Stroke drug improves stem cell therapy in rat spinal cord injury models

Four months after treating them, Yasuhiro Shiga, MD, PhD, checked on his rats. Walking into the lab, he carried minimal expectations.

17 Dec 2019

Criticality is a hallmark of normally functioning brain networks, research shows

Researchers long wondered how the billions of independent neurons in the brain come together to reliably build a biological machine that easily beats the most advanced computers. All of those tiny interactions appear to be tied to something that guarantees an impressive computational capacity.

8 Oct 2019

$28 million grant supports Cincinnati Children's role as coordinating center for Rare Diseases Clinical Research Network

The federal agency that oversees a large network of research centers seeking cures for hundreds of rare, disabling and often fatal diseases has named Cincinnati Children's as its new data management and coordinating center.

4 Oct 2019

Cure for Rett Syndrome a step closer as scientists successfully reactivate 'back-up’ genes

A team headed by Vincent Pasque at his Lab at KU Leuven alongside researchers from the Jean-Christophe Marine lab and the Edith Heard lab have made a significant step towards developing a treatment for Rett syndrome and other X chromosome linked disorders.

17 Sep 2019

Measuring pupil dilation and heart rate using AI could enable earlier diagnosis of autism

Autism and other neurodevelopmental disorders often aren't diagnosed until a child is a few years of age, when behavioral interventions and speech/occupational therapy become less effective.

24 Jul 2019

Exosomes can restore health to brain cells affected by developmental disease

Like overpacked suitcases unloaded from the underbelly of a jet, molecular satchels called exosomes are continuously deployed from all cells in the body—each one brimming with an assortment of contents that another cell may unpack and use.

23 Jul 2019

Dietary supplement improves neuronal function of a patient with atypical Rett syndrome

A multicentric translational research study carried out by groups of the Bellvitge Biomedical Research Institute, Sant Joan de Déu Hospital, the University of Barcelona, Hospital Clínic, the University of Vic, Sant Pau i la Santa Creu Hospital, the Rare Diseases Networking Biomedical Research Centre and the Commissariat à l'Énergie Atomique, has demonstrated the potential of the amino acid L-serine - administered as a dietary supplement - to improve the neuronal function of a patient with a mutation of glutamate receptors associated with atypical Rett syndrome with severe encephalopathy.

19 Jun 2019

Rettsyndrome.org funds research that will benefit boys and girls with MECP2-related disorders

Rettsyndrome.org announced their funding of two new research projects today. Jeannie T. Lee, MD, Ph.D. of Massachusetts General Hospital is awarded a two-year ANGEL Grant for $600,000 to focus on reactivating the silent X chromosome for Rett syndrome and Davut Pehlivan, MDof Baylor College of Medicine is awarded a two-year Mentored Clinical Fellowship for $250,000 to study MECP2 Duplication syndrome.

6 Jun 2019

Genetic mutations in brain development lead to discovery of rare genetic diseases

Mutations in a gene involved in brain development have led to the discovery of two new neurodevelopmental diseases by an international team led by researchers at McGill University and CHU Sainte-Justine Research Center.

26 Apr 2019