Rett Syndrome News and Research

RSS

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 identify 43 specific genes associated with both autism and cancer

Autism and cancer share more than 40 risk genes, suggesting that common mechanisms underlying the functions of some of these genes could conceivably be leveraged to develop therapies not just for cancer but for autism as well, an extensive assessment by researchers with the UC Davis MIND Institute and Comprehensive Cancer Center has found.

4 May 2016

Drexel study provides new insight into future treatment of breathing disorders

Bringing a steady supply of fresh air to the lungs can seem like a simple task, but breathing is a careful orchestration of brain and body.

20 Apr 2016

DNA sequence features predict genome-wide binding pattern of key protein involved in brain disorders

Researchers from the University of Illinois at Urbana-Champaign and the University of California-Davis are combining in vivo experimentation with computation for highly accurate prediction of the genome-wide binding pattern of a key protein involved in brain disorders.

25 Mar 2016

LouLou Foundation, Penn Med set up Program of Excellence to develop treatments for children with CDKL5

The London-based LouLou Foundation and the Orphan Disease Center of the Perelman School of Medicine at the University of Pennsylvania have established a Program of Excellence to develop effective treatments for children with CDKL5, a rare X-chromosome-linked genetic disorder that causes severe neuro-developmental impairment and early-onset, difficult-to-control seizures.

8 Feb 2016

Research could lead to new treatment for Rett Syndrome, other forms of autism

Penn State scientists have discovered a novel drug target and have rescued functional deficits in human nerve cells derived from patients with Rett Syndrome, a severe form of autism-spectrum disorder.

11 Jan 2016

Research reveals MECP2 Duplication Syndrome can be reversed

The methyl CpG binding protein 2 gene (MECP2) produces a protein of the same name, the level of which is critical for normal brain function. Mutations leading to protein under-expression cause Rett Syndrome while gene duplication causing over-expression lead to MECP2 Duplication Syndrome. Both disorders are severely debilitating childhood neurological diseases.

26 Nov 2015

Study provides biochemical links between genes linked to autism and the inhibition of nerve cells

A study led by the University of Utah School of Medicine provides new insights into how the subtle changes within cells, caused by disruptions in a gene called Kirrel3, could underlie some types of intellectual disability and autism.

18 Nov 2015

New genetic discovery could lead to better treatment for X-linked diseases

Think back to middle school biology class, when you learned that boys have an X and a Y chromosome inside each cell, and girls have two X's.

20 Oct 2015

Researchers use stem cell-derived 'mini-brains' to identify drug candidate for rare neurological disorder

Using "mini-brains" built with induced pluripotent stem cells derived from patients with a rare, but devastating, neurological disorder, researchers at University of California, San Diego School of Medicine say they have identified a drug candidate that appears to "rescue" dysfunctional cells by suppressing a critical genetic alteration.

9 Sep 2015

RSAM, Rettsyndrome.org renew commitment to jointly defeat Rett syndrome

The Rett Syndrome Association of Massachusetts and Rettsyndrome.org announce today their renewed commitment to work together to defeat Rett syndrome. A generous $85,000 donation from RSAM will support an ongoing clinical trial for Rettsyndrome.org at Boston Children's Hospital.

13 Aug 2015

Study finds mechanism that identifies cause of intellectual disabilities in autism, Rett syndrome

The term intellectual disability covers a large number of clinical entities, some with known cause and others of uncertain origin. For example Down syndrome is due to an extra copy of chromosome 21 and Rett syndrome is in part caused by a mutation in the control switch gene called MeCP2.

21 Jul 2015

Scientists and families to gather in The Woodlands, Texas to build up community around Christianson Syndrome

It takes a committed community to develop effective treatments for a new disease. With that hope, scientists and families will come together in a Houston suburb July 30- Aug. 2 to build up the community around Christianson Syndrome, a genetic intellectual disability disorder, often associated with autistic features, first discovered 16 years ago.

7 Jul 2015

New 2015 Rettsyndrome.org awards announced

Rettsyndrome.org announces today that the Board of Trustees has awarded $1M to launch the Read-Through Program, further translational research in the area of Neuro-Habilitation, and fund clinical research.

27 Jun 2015

Immune system plays surprising role in the progression of Rett syndrome

New research by investigators at the University of Massachusetts Medical School suggests the immune system plays an unsuspected and surprising role in the progression of Rett syndrome, a severe neurological disorder affecting children. Immune cells known as macrophages are unable to perform their normal function and are instead amplifying the disease.

11 May 2015

UVA research identifies new role of immune system in Rett syndrome

The immune system is designed to protect us from disease. But what if it was malfunctioning? Would it make a disease worse? That appears to be the case with Rett syndrome, a neurodevelopmental disorder, and possibly in other neurological disorders as well, new research from the University of Virginia School of Medicine has found.

22 Apr 2015

Findings may lay foundation for treatment of neurodegenerative diseases

This story starts in 1955, upon the death of Albert Einstein, when the pathologist charged with performing the famous scientist's autopsy stole his brain.

3 Feb 2015

Newron, Zambon announce re-submission of safinamide NDA to FDA

Newron Pharmaceuticals S.p.A., a research and development company focused on novel CNS and pain therapies, and its commercial and development partner Zambon S.p.A., an international pharmaceutical company, announced today that the NDA for safinamide has been re-submitted to the US FDA.

29 Dec 2014

New nationwide effort seeks to find novel approaches to treat ASD, intellectual disability

Some of the genetic diseases that can cause autism spectrum disorder (ASD) and intellectual disability (ID) are so rare that even physicians who specialize in treating them can't be certain they have seen every possible symptom.

19 Dec 2014

Scientists receive NARSAD Distinguished Investigator Grants for mental health research

The Brain & Behavior Research Foundation today announced the award of NARSAD Distinguished Investigator Grants valued at $1.5 million to 15 scientists, who are full professors or the equivalent, conducting innovative projects in diverse areas of neurobiological and behavioral research.

13 Nov 2014

UCSD researchers implicate new gene in idiopathic or non-syndromic autism

With the help of mouse models, induced pluripotent stem cells (iPSCs) and the "tooth fairy," researchers at the University of California, San Diego School of Medicine have implicated a new gene in idiopathic or non-syndromic autism. The gene is associated with Rett syndrome, a syndromic form of autism, suggesting that different types of autism spectrum disorder (ASD) may share similar molecular pathways.

11 Nov 2014