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.

Rare YKT6 Gene Variants Linked to New Neurological Disorder

A recent collaborative study has discovered rare variants in the YKT6 gene as the cause of a new neurological disorder characterized by developmental delays along with severe progressive liver disease and a potential risk for liver cancer.

2 Apr 2024

Study Reveals That Transcriptional Buffering Occurs in Rett Syndrome Nerve Cells

Every cell in our body is able to turn genes (DNA) on or off, producing RNA, but when genes are 'turned on' to the wrong level it can result in a variety of health conditions.

3 May 2023

Scientists develop microscopy technology that observes how new neurons struggle to reach their developmental destination

With organoids to model early growth, scientists employed a developing microscopy technology to observe that new neurons find it hard to reach their developmental goal.

From Massachusetts Institute of Technology (MIT) 1 Aug 2022

RNA targeted by small molecule drugs, likely to create new pathways for disease treatment

RNA (ribonucleic acid) is involved in many aspects of human health, and a new study published in the journal Nature provides compelling evidence that RNA could be a promising pharmacological target.

1 Apr 2022

Researchers show how two X chromosomes communicate during embryo development

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

Researchers map DNA methylation changes to study developmental disorders

Researchers performed a study in which they created a total of 168 new maps of chemical marks on DNA strands, known as methylation, in developing mice.

30 Jul 2020

RNA editing repair technique shows promise for treating neurological disorders

Researchers have effectively edited RNA in a living creature such that the repaired RNA subsequently rectified a mutation in a protein that leads to Rett syndrome—a debilitating neurological disorder that affects people.

15 Jul 2020

New mechanism shows promise for treating certain congenital disorders

Scientists have discovered a major mechanism in the inactivation of X chromosomes, an event that may hold clues to develop treatments for congenital disorders.

16 Jun 2020

Foxg1 gene works like a molecular knob to modulate electrical activity of the neurons

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

Distinct loss-of-function variants cause shared clinical features in neuronal development disorders

Researchers have shown that mutations in four distinct genes that lead to Kleefstra syndrome.

20 Feb 2020