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 underlying genetic pathway behind neurological dysfunction of Rett syndrome

Medical researchers led by Kyushu University have revealed a possible underlying genetic pathway behind the neurological dysfunction of Rett syndrome.

2 Jul 2021

Cerebral organoids provide new insight into role of key enzyme in natural brain development

Like many around the world, the lab of Professor Mriganka Sur in The Picower Institute for Learning and Memory at MIT has embraced the young technology of cerebral organoids, or "minibrains," for studying human brain development in health and disease.

11 May 2021

Researchers characterize regions of DNA that impact MECP2 expression

Researchers at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital (NRI) have identified and characterized two regions of DNA required for the proper expression of Mecp2/MECP2 in mice and humans.

19 Mar 2021

UVA researcher developing innovative gene therapy to help children with Rett syndrome

A University of Virginia School of Medicine scientist is developing an innovative gene therapy she hopes will slow disease progression and improve movement, coordination and communication in children with Rett syndrome.

17 Mar 2021

MGH researchers uncover new clues about X chromosome inactivation

Researchers at Massachusetts General Hospital have uncovered new clues that add to the growing understanding of how female mammals, including humans, "silence" one X chromosome.

15 Mar 2021

New evidence supports the use of antisense oligonucleotides as feasible therapeutic strategy for MDS

Many cognitive neurodevelopmental disorders are a result of too many or too few copies of certain genes or chromosomes.

5 Mar 2021

New taxonomic classification of non-skeletal rare congenital disorders with impact on bone physiology

Thanks to major progress in the understanding and management of rare congenital diseases and syndromes, many patients with these rare disorders are now living longer lives.

13 Jan 2021

Scientists identify two drug candidates that counteract deficiencies caused by lack of MECP2 gene

Most autism spectrum disorders have a complex, multifactorial genetic component, making it difficult to find specific treatments. Rett syndrome is an exception.

9 Dec 2020

Breakthrough genetic discovery into the cause of severe neurological conditions

Researchers have made a breakthrough genetic discovery into the cause of a spectrum of severe neurological conditions.

8 Oct 2020

Oxytocinergic and vasopressinergic substances in the brain are involved in guiding social behavior

Research conducted by the University of Valencia (UV) and the Jaume I University of Castellón (UJI), among other institutions, has found alterations to the structure of the brain's nonapeptidergic systems, social behavior and the production of pheromones, traits that reveal sexual dimorphism, in male mice with a lack of the Mecp2 gene.

4 Sep 2020

AAV gene therapy often leads to dorsal root ganglion pathology, show studies

A meta-analysis of non-human primate (NHP) studies showed that adeno-associated virus (AAV) gene therapy often caused dorsal root ganglion (DRG) pathology.

3 Sep 2020

Researchers identify shared molecular roots between lipid dysfunction and autism

Researchers at Harvard Medical School, Massachusetts Institute of Technology and Northwestern University have identified a subtype of autism arising from a cluster of genes that regulate cholesterol metabolism and brain development.

18 Aug 2020

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