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Spectrum: Autism Research News

Tag: de novo mutations

April 2018
father and son standing on the beach during sunset

Some mutations tied to autism may be passed down from fathers

by  /  19 April 2018

Some children with autism inherit rare mutations in noncoding DNA from their unaffected fathers.

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March 2018

Explaining ‘resilience’ in autism may seed new therapies

by  /  27 March 2018

Some individuals who have autism mutations show no signs of the condition; understanding why may lead to treatments.

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Neurons from mice missing OTUD7A (right) have fewer spines than do those from controls (left).

Studies pinpoint key gene in region linked to autism

by  /  21 March 2018

A single gene, OTUD7A, may account for most of the features seen in people missing a segment of chromosome 15 known as 15q13.3.

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February 2018
child walking on stone path with parents' help

Genetics underscores importance of motor deficits in autism

by  /  28 February 2018

Spontaneous mutations that impair proteins may lead to motor problems in children with autism.

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Newly flagged genes for developmental conditions (triangles) cluster in networks with previously identified risk factors (circles).

New software mines data for autism risk genes

by  /  16 February 2018

An algorithm combs through genetic data to identify variants involved in autism and four other brain conditions.

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November 2017

Journal club: Exploring treatments for Rett syndrome

11 December 2017

Watch the complete replay of this journal club, which featured two papers that explore therapies for Rett syndrome.

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Week of NovemberNov
13th
2017

Adult assessment; fragile therapy; neuron nirvana and more

by  /  17 November 2017

An interview for diagnosing adults on the spectrum clears its first hurdle, a fragile X drug eases multiple features of the syndrome in a mouse model, and a brain bank chronicles the beautiful diversity of neurons.

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October 2017
Medical practitioner marking blood sample.

Mosaic mutations in sperm point to increased autism risk

by  /  23 October 2017

More than 5 percent of mutations thought to have arisen spontaneously in a child with autism may in fact be inherited.

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Mother and daughter practicing writing.

Rare autism mutations linked to low intelligence

by  /  20 October 2017

People with autism who have rare, damaging mutations tend to have low scores on intelligence tests.

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Two children sitting at a garage sale table.

Scan of whole genomes ties regulatory regions to autism risk

by  /  4 October 2017

Children with autism may have an excess of spontaneous mutations in DNA that controls the expression of autism genes.

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