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Preview: MedWorm: Angelman Syndrome

MedWorm: Angelman Syndrome News



MedWorm.com provides a medical RSS filtering service. Thousands of medical RSS feeds are combined and output via different filters. This feed contains the latest news in Angelman Syndrome



Last Build Date: Mon, 22 May 2017 16:28:30 +0100

 



Integration of CpG-free DNA induces de novo methylation of CpG islands in pluripotent stem cells

Thu, 04 May 2017 00:00:00 +0100

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 successfully corrected aberrant imprinting in induced PSCs derived from an Angelman syndrome patient. Our results provide insights into how CpG-free DNA induces de novo CGI met...

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Meet the girl who sleeps for just 90 minutes each night

Fri, 28 Apr 2017 12:03:25 +0100

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)



Stem cells help researchers identify neuronal defects causing Angelman syndrome

Mon, 24 Apr 2017 19:25:21 +0100

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)



Ovid commences Phase I trial of OV101 to treat Angelman / Fragile X syndromes

Mon, 10 Apr 2017 23:00:00 +0100

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)



Neuron type-specific gene loss linked to angelman syndrome seizures

Thu, 24 Mar 2016 17:38:43 +0100

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)

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Angelman Syndrome

Tue, 06 Oct 2015 19:19:24 +0100

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)



Girl, aged 5, raises $25,000 selling lemonade for disabled brother

Tue, 14 Apr 2015 14:38:02 +0100

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)



Link Between Circadian Clock and Angelman Syndrome Established

Fri, 06 Feb 2015 12:46:56 +0100

(Source: News from NIGMS Funded Institutions)



Circadian clock linked to Angelman syndrome

Thu, 05 Feb 2015 17:27:31 +0100

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)



Computer-aided diagnosis of rare genetic disorders from family snaps

Tue, 24 Jun 2014 13:33:22 +0100

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)

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How a family photo could soon diagnose some of the rarest genetic diseases

Tue, 24 Jun 2014 00:44:41 +0100

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)



Angelman syndrome: The boy who never stops SMILING

Wed, 04 Sep 2013 13:50:10 +0100

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)



Neuroscientists find protein linked to cognitive deficits in Angelman syndrome

Thu, 01 Aug 2013 04:00:00 +0100

(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)



Genetic Connections Identified In 15q Duplication Syndrome/Autism

Thu, 28 Mar 2013 08:00:00 +0100

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)

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Genetic Mutation Causing Mental Retardation Very Similar To Angelman Syndrome Found In Amish Community

Fri, 15 Mar 2013 07:00:00 +0100

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)



Found a genetic mutation causing mental retardation very similar to Angelman syndrome in Amish

Tue, 12 Mar 2013 04:00:00 +0100

(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)



Mutation of HERC2 Causes Angelman-Like FeaturesMutation of HERC2 Causes Angelman-Like Features

Mon, 25 Feb 2013 04:00:00 +0100

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)



Advance In Mouse Model Of Angelman Syndrome

Sat, 16 Feb 2013 08:00:00 +0100

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)



Study in mice yields Angelman advance

Wed, 13 Feb 2013 05:00:00 +0100

(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)

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Health Board

Tue, 12 Feb 2013 00:31:17 +0100

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)