Angelman Syndrome News and Research RSS Feed - Angelman Syndrome News and Research

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

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. [More]
Researchers explore how to turn on the activity of paternal gene

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. [More]
First diagnostic criteria proposed for Christianson Syndrome

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. [More]
Computer analysis of family photos could help diagnose rare genetic disorders

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. [More]
Researchers describe why current medications only moderately reduce Fragile X symptoms

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. [More]
Neuroscientists identify protein that contributes to cognitive deficits in AS

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. [More]
Children born after assisted reproduction at no greater risk for cancer, study finds

Children born after assisted reproduction at no greater risk for cancer, study finds

Children born as a result of assisted reproduction are at no greater risk of cancer than children born spontaneously in the general population, according to results of one of the largest ever cohort studies of ART children. [More]
Prader-Willi syndrome results in dysregulation of circadian and metabolic genes

Prader-Willi syndrome results in dysregulation of circadian and metabolic genes

Researchers with the UC Davis MIND Institute and Agilent Laboratories have found that Prader-Willi syndrome - a genetic disorder best known for causing an insatiable appetite that can lead to morbid obesity - is associated with the loss of non-coding RNAs, resulting in the dysregulation of circadian and metabolic genes, accelerated energy expenditure and metabolic differences during sleep. [More]
Study identifies genetic cause of developmental delay in Amish individuals in USA

Study identifies genetic cause of developmental delay in Amish individuals in USA

Researchers from the research group in growth factors and cell differentiation at the University of Barcelona (UB) and the IDIBELL and have participated in an international study that has identified the genetic cause of developmental delay observed in Amish individuals in the USA. [More]
Study demonstrates relationship between protein HERC2 and human diseases

Study demonstrates relationship between protein HERC2 and human diseases

Researchers from the research group in growth factors and cell differentiation at IDIBELL and the University of Barcelonahave participated in an international study that has identified the genetic cause of developmental delay observed in Amish individuals in the USA. [More]
Study demonstrates how CN2097 works to restore neural functions impaired by Angelman syndrome

Study demonstrates how CN2097 works to restore neural functions impaired by Angelman syndrome

In a new study in mice, a scientific collaboration centered at Brown University lays out in unprecedented detail a neurological signaling breakdown in Angelman syndrome, a disorder that affects thousands of children each year, characterized by developmental delay, seizures, and other problems. [More]
Study describes how seizures in people with AS could be linked to brain cell activity imbalance

Study describes how seizures in people with AS could be linked to brain cell activity imbalance

New research by scientists at the University of North Carolina School of Medicine may have pinpointed an underlying cause of the seizures that affect 90 percent of people with Angelman syndrome (AS), a neurodevelopmental disorder. [More]
New UNC clinic to address individuals with Angelman Syndrome

New UNC clinic to address individuals with Angelman Syndrome

February 3, 2012 marks the grand opening of the UNC Comprehensive Angelman Syndrome Clinic at the Carolina Institute for Developmental Disabilities (CIDD). [More]
New way to awaken paternal Ube3a allele linked with Angelman syndrome

New way to awaken paternal Ube3a allele linked with Angelman syndrome

Results of a new study from the University of North Carolina at Chapel Hill may help pave the way to a treatment for a neurogenetic disorder often misdiagnosed as cerebral palsy or autism. [More]
Autism Speaks announces 47 new ASD research grants

Autism Speaks announces 47 new ASD research grants

Autism Speaks, the world's largest autism science and advocacy organization, today announced the awarding of 47 new research grants totaling $13,242,279 in funding over the next three years. [More]
Techne's R&D Systems acquires Boston Biochem assets

Techne's R&D Systems acquires Boston Biochem assets

Techne Corporation announced today that as of April 1, 2011, its R&D Systems subsidiary has acquired the assets of Boston Biochem, Inc., a leading developer and manufacturer of innovative ubiquitin-related research products. [More]
Scientists to develop new techniques for autism detection and treatment

Scientists to develop new techniques for autism detection and treatment

To parents, learning that a child has been diagnosed with autism can be overwhelming. Children with the disorder can seem trapped in a world of their own, without friends or even a conception of friendship. Many prefer to play alone. Some lose the ability to speak more than a few words. [More]
Lineagen introduces FirstStep integrated genetic testing for early diagnostic evaluation of ASD, DD

Lineagen introduces FirstStep integrated genetic testing for early diagnostic evaluation of ASD, DD

Lineagen announces the launch of its FirstStep integrated genetic testing and counseling service to assist pediatricians and family physicians with the earlier, more accurate diagnostic evaluation of autism spectrum disorders and developmental delay. [More]
Professor Nygren reviews current state of IVF safety

Professor Nygren reviews current state of IVF safety

Now a review by the Chair of the international body which collects data on IVF concludes that IVF is generally safe, although he stresses that patients need to be made aware of the slight risks, and that we need to continue to monitor the results of the technique. [More]
Tel Aviv University research suggests link between IVF treatments and autism

Tel Aviv University research suggests link between IVF treatments and autism

The first "test tube baby" was born in 1978. With advances in reproductive science, an estimated one percent of all American babies are now born each year through in vitro fertilization. But IVF and other assisted fertility treatments may be solving one problem by creating another, suggests new evidence from Tel Aviv University. [More]