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Tag: imprinting

September 2013

Autism genes are surprisingly large, study finds

by  /  16 September 2013

Enzymes called topoisomerases are crucial for the expression of extremely long genes, including many that have been linked to autism, according to a study published 5 September in Nature. The researchers also discovered that autism genes are, on average, significantly longer than others.

Multimedia / Webinars

Benjamin Philpot explains Angelman drug prospects

25 September 2013

Watch the complete replay of Benjamin Philpot discussing the possibility of pharmacologically turning on a silent gene to treat Angelman syndrome. Submit follow-up questions.

July 2013

Genetics: Levels of regulatory gene crucial for development

by  /  9 July 2013

Duplication of a chromosomal region that includes the autism-linked gene MBD5 leads to intellectual disability, language impairment and autism-like symptoms, according to a study published 1 May in the European Journal of Human Genetics.

April 2013

Angelman syndrome drug shows promise in mouse study

by  /  29 April 2013

Two weeks of treatment with a cancer drug called topotecan boosts expression for a year of the gene that’s deficient in Angelman syndrome, according to unpublished mouse research presented 20 March at the New York Academy of Sciences.

1 Comment

How can an experimental Angelman drug be so specific?

by  /  29 April 2013

A candidate drug for Angelman syndrome shows promise in activating the gene silenced in people with the disorder, and only that gene. Why doesn’t it unsilence other genes?

1 Comment

Study clarifies link between 15q duplication and autism

by  /  4 April 2013

Children who carry an extra copy of the 15q11-13 region of the genome usually have autism and sleep troubles, as well as distinctive brain-wave patterns and facial features, according to a report published 14 March in Autism Research.

December 2012
News / Profiles

Benjamin Philpot: Managing risks to reap big rewards

by  /  20 December 2012

Smart risk management has propelled Benjamin Philpot from one adventure to another, whether it’s attempting unusual drug screens, learning to rock climb or taking his family to see volcanoes in Chile. His optimism and scientific vigor have led to discoveries for the rare Angelman syndrome, and for the wider autism spectrum.

November 2012

Molecular mechanisms: Regulatory RNA altered in autism

by  /  9 November 2012

Postmortem brains from individuals with autism have abnormal levels of long non-coding RNAs, which regulate the expression of genes, according to a study published 5 September in the Journal of Molecular Neuroscience.

October 2012
News / Toolbox

Stem cells reveal genes that have parental bias

by  /  31 October 2012

Researchers have used stem cells to identify 801 neuronal genes that are preferentially expressed from either the maternal or paternal chromosome, according to a study published 30 August in PLoS One. Of these genes, 26 are linked to autism and 48 to schizophrenia. 

August 2012

Researchers home in on dosage effects of 15q11-13 region

by  /  13 August 2012

Researchers are beginning to tease apart how dosage of genes within the 15q11-13 chromosomal region contributes to autism symptoms.