Angelman Syndrome News and Research

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Cannabidiol may alleviate seizures and normalize brain rhythms in Angelman syndrome

A marijuana plant extract, also known as cannabidiol, is being commonly used to improve anxiety, sleep problems, pain, and many other neurological conditions.

18 Sep 2019

Researchers use genomics to solve a 20-year case study

After 20 years, a patient's family received an answer to a decades-long genetic mystery. Their daughter had two rare disorders, Angelman syndrome and P450scc deficiency, which was detected after researchers found out she had uniparental disomy, two copies of chromosome 15 from one parent and none from another.

28 Apr 2019

Genetic therapy may help children with Angelman syndrome to overcome seizures

Angelman syndrome is a genetic disease with no cure. Children grow up with severe intellectual disabilities and a range of other problems, arguably the worst of which are epileptic seizures. Now scientists at the UNC School of Medicine have found evidence that genetic therapy may prevent the enhanced seizure susceptibility.

21 Nov 2018

Rush University Medical Center opens Angelman Syndrome Clinic

Rush University Medical Center and the Angelman Syndrome Foundation, a national nonprofit organization headquartered in Aurora, Ill., announced the official opening of the Angelman Syndrome Clinic at Rush Children's Hospital.

23 Aug 2018

Role of UBE3A enzyme in Angelman syndrome

The group, led by the Ikerbasque professor Ugo Mayor of the UPV/EHU's Department of Biochemistry and Molecular Biology, has just published in the journal Human Molecular Genetics an explanation of the mechanisms affected by Angelman syndrome.

20 Apr 2018

Researchers discover ‘recycled’ genes in mammalian genome

One often hears about the multitude of genes we have in common with chimps, birds or other living creatures, but such comparisons are sometimes misleading. The shared percentage usually refers only to genes that encode instructions for making proteins -- while overlooking regulatory genes, which nonetheless make up a large part of the genome.

18 Sep 2017

Pharmaceutical giant Roche funds concept study aiming to find cure for Angelman syndrome

A collaborative group of parent-driven organizations seeking a cure for Angelman syndrome has teamed up with F. Hoffmann-La Roche Ltd, one of the world’s largest pharmaceutical and diagnostics companies, in the first phase of a study that will support the design of human clinical trials and treatment development for the disorder.

28 Jun 2017

Scientists use stem cells to identify underlying cellular defects that cause Angelman syndrome

Researchers at UConn Health used stem cells derived from patients with Angelman syndrome to identify the underlying cellular defects that cause the rare neurogenetic disorder, an important step in the ongoing search for potential treatments for Angelman and a possible cure.

25 Apr 2017

Study provides insights into genetic, neuronal circuit mechanisms linked to autism's impaired sociability

Researchers at Beth Israel Deaconess Medical Center have gained new insight into the genetic and neuronal circuit mechanisms that may contribute to impaired sociability in some forms of Autism Spectrum Disorder.

16 Mar 2017

UNIGE researchers develop new technique to improve diagnosis of genetic diseases

When a child is conceived, he or she receives DNA from both parents. The child's own genome thus consists of a maternal and a paternal genome. However, some genes — about 100 out of the 20,000 encoded genes— are exclusively expressed either from the maternal or from the paternal genome, with the other copy of the gene remaining silent.

16 Feb 2017

Penn Medicine's ODC collaborates with FAST to develop gene therapy for Angelman syndrome

Penn Medicine's Orphan Disease Center announces a new partnership with FAST to study gene therapy approaches to treat Angelman syndrome.

14 Feb 2017

Lack of UBE3A gene causes Angelman syndrome

The gene UBE3A plays a critical role in early neurological development. If UBE3A is overexpressed - or if the enzymatic function of UBE3A protein is hyperactive - autism ensues. A lack of functional UBE3A causes Angelman syndrome (AS), a neurodevelopmental disorder characterized by severe developmental delay, motor deficits, absence of speech, and, in most cases, epilepsy.

25 Mar 2016

UNC researchers show how a genetic mutation disables molecular switch and causes autism

Last December, researchers identified more than 1,000 gene mutations in individuals with autism, but how these mutations increased risk for autism was unclear. Now, UNC School of Medicine researchers are the first to show how one of these mutations disables a molecular switch in one of these genes and causes autism.

7 Aug 2015

Vanderbilt researchers find link between the biological clock and Angelman syndrome

Monitoring participants' biological clocks may be the quickest way to determine the effectiveness of experimental drugs currently under development to treat Angelman syndrome: a debilitating genetic disorder that occurs in more than one in every 15,000 live births.

6 Feb 2015

Researchers identify biochemical mechanism that could lead to 'chemo brain'

UNC School of Medicine researchers have found for the first time a biochemical mechanism that could be a cause of "chemo brain" - the neurological side effects such as memory loss, confusion, difficulty thinking, and trouble concentrating that many cancer patients experience while on chemotherapy to treat tumors in other parts of the body.

4 Dec 2014

Researchers explore how to turn on the activity of paternal gene

Most genes are inherited as two working copies, one from the mother and one from the father. However, in a few instances, a gene is imprinted, which means that one copy is silenced. This is called genomic imprinting. If the active copy is mutated, then disease results, even though the silenced gene copy may be normal.

2 Dec 2014

First diagnostic criteria proposed for Christianson Syndrome

Because the severe autism-like condition Christianson Syndrome was only first reported in 1999 and some symptoms take more than a decade to appear, families and doctors urgently need fundamental information about it. A new study that doubles the number of cases now documented in the scientific literature provides the most definitive characterization of CS to date.

22 Jul 2014

Computer analysis of family photos could help diagnose rare genetic disorders

Computer analysis of photographs could help doctors diagnose which condition a child with a rare genetic disorder has, say Oxford University researchers.

24 Jun 2014

Researchers describe why current medications only moderately reduce Fragile X symptoms

When you experience something, neurons in the brain send chemical signals called neurotransmitters across synapses to receptors on other neurons. How well that process unfolds determines how you comprehend the experience and what behaviors might follow. In people with Fragile X syndrome, a third of whom are eventually diagnosed with Autism Spectrum Disorder, that process is severely hindered, leading to intellectual impairments and abnormal behaviors.

24 Oct 2013

Neuroscientists identify protein that contributes to cognitive deficits in AS

A team of neuroscientists has identified a protein in laboratory mice linked to impairments similar to those afflicted with Angelman syndrome (AS)—a condition associated with symptoms that include autism, intellectual disability, and motor abnormalities.

2 Aug 2013