Tag: fragile X syndrome

January 2019
Features / Deep Dive

Revelando los secretos del síndrome X frágil en Colombia

by  /  31 January 2019

Una remota ciudad colombiana es el hogar del grupo más grande de personas con síndrome de X frágil. Los científicos están aprendiendo de ellos y tratando de ayudar.

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Portrait of boy with autism
Features / Deep Dive

Why genetic tests matter for autistic people

by  /  30 January 2019

Genetic tests for people with autism are far from routine and don’t always yield results, but the information they offer can change lives.

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December 2018
Illustration of profiles with brains of different colors.
Features / Special Reports / 2018: Year in Review

In case you missed it: Five Spectrum stories from 2018

21 December 2018

Spectrum’s editors chose five stories from 2018 you may have missed the first time around.

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whimsical machine takes in various data and spits out an organized version on the other end
Features / Special Reports / 2018: Year in Review

Notable papers in autism research in 2018

21 December 2018

This year’s list of top papers highlights new dimensions in our understanding of autism genetics and hints at novel treatments.

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News

Colombian cluster of fragile X may reveal insights into ‘premutation’

by  /  20 December 2018

Carriers of fragile X premutations in Ricaurte, Colombia, have more medical problems than carriers living elsewhere — and discovering why might yield treatments for the syndrome.

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November 2018
Two hands hold two pills, one red and one blue.
News

Drug duo delivers brain, behavioral benefits for fragile X syndrome

by  /  8 November 2018

Administering a cholesterol drug alongside an antibiotic eases atypical behavior and restores the signaling balance in the brains of people with fragile X syndrome.

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October 2018
News

Misfiring visual cells may underlie key sensory problem in fragile X

by  /  17 October 2018

The motion perception difficulties seen in people with fragile X syndrome, a leading cause of autism, may stem from a faulty visual circuit.

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Illustration of research mice forming the letter "X".
News

Fragile X syndrome’s link to autism, explained

by  /  10 October 2018

Fragile X syndrome is a leading genetic cause of autism. People who have either condition often share certain traits, such as difficulties in social situations.

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Juan Pablo Quintero, Sara Quintero, Soledad Quintero, Rosario Quintero, Yeison Quintero, pose for a group portrait in Ricaurte, Valle del Cauca, on July 28, 2018.
Features / Deep Dive

Unlocking the secrets of fragile X in Colombia

by  /  10 October 2018

A remote Colombian town is home to the world’s largest cluster of people with fragile X syndrome. Scientists are learning from them — and trying to help.

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September 2018
News

Loss of large proteins underlies fragile X syndrome, study says

by  /  13 September 2018

The protein missing in fragile X syndrome, FMRP, facilitates the production of hundreds of unusually large proteins, some of which are linked to autism.

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