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Integration of CpG-free DNA induces de novo methylation of CpG islands in pluripotent stem cells
CpG islands (CGIs) are primarily promoter-associated genomic regions and are mostly unmethylated within highly methylated mammalian genomes. The mechanisms by which CGIs are protected from de novo methylation remain elusive. Here we show that insertion of CpG-free DNA into targeted CGIs induces de novo methylation of the entire CGI in human pluripotent stem cells (PSCs). The methylation status is stably maintained even after CpG-free DNA removal, extensive passaging, and differentiation. By targeting the DNA mismatch repair gene MLH1 CGI, we could generate a PSC model of a cancer-related epimutation. Furthermore, we succes...
Source: ScienceNOW - May 4, 2017 Category: Science Authors: Takahashi, Y., Wu, J., Suzuki, K., Martinez-Redondo, P., Li, M., Liao, H.-K., Wu, M.-Z., Hernandez-Benitez, R., Hishida, T., Shokhirev, M. N., Esteban, C. R., Sancho-Martinez, I., Belmonte, J. C. I. Tags: Molecular Biology r-articles Source Type: news

Meet the girl who sleeps for just 90 minutes each night
Ever Hisko, from Renfrew, Ontario, was only recently diagnosed with Angelman syndrome - which has no cure. Not only does it affect her sleeping, but it also means she is unable to speak. (Source: the Mail online | Health)
Source: the Mail online | Health - April 28, 2017 Category: Consumer Health News Source Type: news

Stem cells help researchers identify neuronal defects causing Angelman syndrome
Researchers have used stem cells derived from patients with Angelman syndrome to identify the underlying neuronal defects that cause the rare neurogenetic disorder, an important step in the ongoing search for potential treatments for Angelman and a possible cure. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - April 24, 2017 Category: Science Source Type: news

Stem cells help researchers identify neuronal defects causing Angelman syndrome
(University of Connecticut) Researchers at UConn Health used stem cells derived from patients with Angelman syndrome to identify the underlying neuronal defects that cause the rare neurogenetic disorder, an important step in the ongoing search for potential treatments for Angelman and a possible cure. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - April 24, 2017 Category: Global & Universal Source Type: news

Ovid commences Phase I trial of OV101 to treat Angelman / Fragile X syndromes
Biopharmaceutical firm Ovid Therapeutics has commenced the Phase I clinical trial of OV101 for the treatment of adolescents with Angelman syndrome or Fragile X syndrome. (Source: Drug Development Technology)
Source: Drug Development Technology - April 10, 2017 Category: Pharmaceuticals Source Type: news

Neuron type-specific gene loss linked to angelman syndrome seizures
A new study has helped determine that UBE3A gene loss specifically from GABAergic neurons is what's critical for seizures in Angelman patients. But UBE3A loss from other neuron types may drive other phenotypes associated with the condition. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - March 24, 2016 Category: Science Source Type: news

Angelman Syndrome
NASHVILLE, Tenn. (Ivanhoe Newswire) -- What would you do if your son was born with a serious disorder and there was no cure? Terry Jo Bichell, Vanderbilt University researcher in Nashville, Tennessee, knew what she had to do: find one. (Source: Medical Headlines From Ivanhoe.com)
Source: Medical Headlines From Ivanhoe.com - October 6, 2015 Category: Consumer Health News Source Type: news

Girl, aged 5, raises $25,000 selling lemonade for disabled brother
A five-year-old girl from Toronto, has raised $25, 000 in the hope that a cure can be found for her brother's disability (Source: Telegraph Health)
Source: Telegraph Health - April 14, 2015 Category: Consumer Health News Tags: Foundation for Angelman Syndrome Theraputics Foundation for Angelman Syndrome Therapeutics colin farrell fundraising Source Type: news

Link Between Circadian Clock and Angelman Syndrome Established
(Source: News from NIGMS Funded Institutions)
Source: News from NIGMS Funded Institutions - February 6, 2015 Category: Research Source Type: news

Circadian clock linked to Angelman syndrome
Biologists have found a direct link between the biological clock and Angelman syndrome, a neurogenetic disorder that occurs in more than one in every 15,000 live births. The link may provide a valuable way to judge the effectiveness of the first experimental drugs under development for treating the syndrome. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - February 5, 2015 Category: Science Source Type: news

Computer-aided diagnosis of rare genetic disorders from family snaps
Computer analysis of photographs could help doctors diagnose which condition a child with a rare genetic disorder has, say researchers. The researchers have come up with a computer program that recognizes facial features in photographs; looks for similarities with facial structures for various conditions, such as Down's syndrome, Angelman syndrome, or Progeria; and returns possible matches ranked by likelihood. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - June 24, 2014 Category: Science Source Type: news

Computer-aided diagnosis of rare genetic disorders from family snaps
(University of Oxford) Computer analysis of photographs could help doctors diagnose which condition a child with a rare genetic disorder has, say Oxford University researchers. The researchers have come up with a computer program that recognizes facial features in photographs; looks for similarities with facial structures for various conditions, such as Down's syndrome, Angelman syndrome, or Progeria; and returns possible matches ranked by likelihood. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 24, 2014 Category: Global & Universal Source Type: news

How a family photo could soon diagnose some of the rarest genetic diseases
Many genetic conditions such as Down’s syndrome and Angelman syndrome are associated with changes in facial appearance, say the Oxford and Edinburgh researchers. (Source: the Mail online | Health)
Source: the Mail online | Health - June 24, 2014 Category: Consumer Health News Source Type: news

Angelman syndrome: The boy who never stops SMILING
Ollie Petherick, from Devises, Wiltshire, has Angelman syndrome - a rare genetic condition that only affects 1,000 people in the UK. (Source: the Mail online | Health)
Source: the Mail online | Health - September 4, 2013 Category: Consumer Health News Source Type: news

Neuroscientists find protein linked to cognitive deficits in Angelman syndrome
(New York University) A team of neuroscientists has identified a protein in laboratory mice linked to impairments similar to those afflicted with Angelman syndrome -- a condition associated with symptoms that include autism, intellectual disability, and motor abnormalities. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - August 1, 2013 Category: Global & Universal Source Type: news

Genetic Connections Identified In 15q Duplication Syndrome/Autism
A new study published in the March issue of Autism Research from the University of Tennessee Health Science Center and Le Bonheur researchers is making the genetic connections between autism and Chromosome 15q Duplication Syndrome (Dup15q). The Memphis researchers determined that the maternally derived or inherited duplication of the region inclusive of the UBE3A gene (also known as the Angelman/Prader-Willi syndrome locus) are sufficient to produce a phenotype on the autism spectrum in all ten maternal duplication subjects... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - March 28, 2013 Category: Consumer Health News Tags: Autism Source Type: news

Genetic Mutation Causing Mental Retardation Very Similar To Angelman Syndrome Found In Amish Community
Researchers from the research group in growth factors and cell differentiation at IDIBELL and the University of Barcelona (UB) have participated in an international study that has identified the genetic cause of developmental delay observed in Amish individuals in the USA. The research results have been published in the Journal of Medical Genetics. Amish community Amish is a religious community known for a simple and traditional style of life and for its reluctance to adopt modern amenities and technologies... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - March 15, 2013 Category: Consumer Health News Tags: Genetics Source Type: news

Found a genetic mutation causing mental retardation very similar to Angelman syndrome in Amish
(IDIBELL-Bellvitge Biomedical Research Institute) Researchers from the research group in growth factors and cell differentiation at IDIBELL and the University of Barcelona have participated in an international study that has identified the genetic cause of developmental delay observed in Amish individuals in the USA. The research results have been published in the Journal of Medical Genetics. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - March 12, 2013 Category: Global & Universal Source Type: news

Mutation of HERC2 Causes Angelman-Like FeaturesMutation of HERC2 Causes Angelman-Like Features
The authors investigate a unique inherited neurodevelopmental condition with some phenotypic similarities to Angelman syndrome, shown to be due to a mutation in the HERC2 gene. Journal of Medical Genetics (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - February 25, 2013 Category: Consumer Health News Tags: Pathology & Lab Medicine Journal Article Source Type: news

Advance In Mouse Model Of Angelman Syndrome
In the journal PLoS Biology, a team of scientists reports experiments showing how the gene defect of Angelman syndrome disrupts neurological processes that may be needed for memory and learning. In tests in mice, the team showed that a novel compound could restore the healthy processes. 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... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - February 16, 2013 Category: Consumer Health News Tags: Neurology / Neuroscience Source Type: news

Study in mice yields Angelman advance
(Brown University) In the journal PLOS Biology, a team of scientists reports experiments showing how the gene defect of Angelman syndrome disrupts neurological processes that may be needed for memory and learning. In tests in mice, the team showed that a novel compound could restore the healthy processes. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - February 13, 2013 Category: Global & Universal Source Type: news

Health Board
Rare disease awareness: European-wide information campaigns highlight Rare Diseases every February. And February 15th has been designated the first International Angelman Syndrome Day. (Source: The Irish Times - Health)
Source: The Irish Times - Health - February 12, 2013 Category: Consumer Health News Source Type: news