Tag: fragile X syndrome

May 2018
Microscopic image of skin cells
News

Study challenges theory that protein surplus underlies fragile X

by  /  16 May 2018

Many people with fragile X syndrome show average rates of protein production, challenging a long-held assumption about the condition.

0 Comments
April 2018
Week of AprilApr
9th
2018
News / Spotted

Fragile X checklist; France plays catch-up; bar-coded neurons and more

by  /  13 April 2018

A checklist for fragile X syndrome could help identify people with the condition in low-resource settings, France unveils a plan for early diagnosis and education of children with autism, and virally inserted ‘bar codes’ help track individual neurons.

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March 2018
Deleting DNA repeats from fragile X neurons restores expression (right, red) of the gene silenced in the syndrome.
News

CRISPR tweak fixes genetic flaw in fragile X syndrome

by  /  29 March 2018

A modified version of the genetic engineering tool CRISPR may restore expression of the gene mutated in fragile X syndrome.

0 Comments
two people walking down dirt road in a town in colubmia
News

‘Founder effect’ may have fueled fragile X cluster in Colombian town

by  /  19 March 2018

A semirural Colombian town called Ricaurte is home to the largest recorded genetic cluster of people with mutations linked to fragile X syndrome.

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Week of MarchMar
12th
2018
News / Spotted

Early theory of mind; bizarre book defense; fake news and more

by  /  16 March 2018

Theory of mind develops surprisingly early, a book publisher doubles down in defense of a controversial author, and false vaccine news gets a correction.

0 Comments
A mouse model of tuberous sclerosis (right) shows less protein synthesis in the brain than a control (left).
News

Shortage of proteins upends theory of tuberous sclerosis origins

by  /  14 March 2018

Mice with the mutations linked to tuberous sclerosis make too little protein in their brains — a finding that contradicts a leading theory about the condition.

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January 2018
group of rats on wood chips
News

Drug in trials for one autism-linked condition may worsen another

by  /  26 January 2018

The drug rapamycin, which is in clinical trials as a treatment for tuberous sclerosis, may exacerbate features of fragile X syndrome, another condition related to autism.

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Week of JanuaryJan
15th
2018
News / Spotted

Social genome; nonspeaking host; microbiome brain and more

by  /  19 January 2018

Common genetics may help forge social ties, a nonspeaking woman with autism hosts “The Late Show,” and the mix of bacteria in the gut may relate to brain structure.

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November 2017
black mice exiting hole
News

Learning shows sex bias in mice with mutation tied to autism

by  /  23 November 2017

Male mice with a genetic variant tied to autism may have learning difficulties that females with the variant do not.

1 Comment
Week of NovemberNov
13th
2017
News / Spotted

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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