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Spectrum: Autism Research News

Tag: fragile X syndrome

August 2021
Young patient speaking to counselor.

Q&A with Brenda Finucane: Building pipelines for genetic tests for autism

by  /  17 August 2021

Most autistic people do not receive the medically recommended genetic tests for autism. Brenda Finucane and her colleagues want to change that.

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Molecular overlap links tuberous sclerosis, fragile X

by  /  16 August 2021

Brain cells from the cerebellums of mice that model tuberous sclerosis show dampened levels of proteins controlled by FMRP, the protein missing in fragile X syndrome.

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July 2021
Colorful, playful illustrated scene of ewborns on a conveyor belt moving past researchers holding a long, long list.

The push to screen newborns for rare autism-linked genetic conditions

by  /  28 July 2021

As treatments for some autism-linked genetic conditions inch closer to the clinic, researchers are talking more urgently about screening all newborns for such conditions.

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June 2021

Enzyme blockers may counteract excess protein levels in fragile X syndrome

by  /  7 June 2021

Investigational drugs that inhibit an overactive enzyme could partially normalize how brain cells mature in boys with fragile X syndrome.

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May 2021
Dr. Elizabeth Berry-Kravis stretching during a run.

Elizabeth Berry-Kravis: Running a marathon for fragile X syndrome

by  /  26 May 2021

Elizabeth Berry-Kravis has spent decades uncovering molecular clues to fragile X syndrome and crafting trials of treatments. Her efforts are paying off.

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April 2021
three black and white monkey brain views next to three color versions showing the a drug target area colored red.

Drug boosts cognition in men with fragile X syndrome

by  /  29 April 2021

A drug that prevents an enzyme from breaking down a key molecule involved in learning and memory improved cognition and behavior in a small study of men with fragile X syndrome.

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March 2021
Colorful illustration shows two researchers examining messy data.

How to safeguard online data collection against fraud

by  /  30 March 2021

When autism researcher Clare Harrop tried to recruit survey participants over social media, she received hundreds of fraudulent responses. But there are ways researchers can protect themselves from similar experiences.

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Street view in Ricuarte, Colombia

Colombia lags behind in fragile X syndrome testing, diagnosis

by  /  10 March 2021

People with fragile X syndrome in Colombia are diagnosed at age 27, on average, according to the first study to assess diagnosis in the country. By comparison, the average age of fragile X diagnosis in the United States is younger than 4.

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Hands of researcher in two colors, one hand with Fragile X and the other with COIVD shapes connected by multicolored dots.

Fragile X researcher takes on COVID-19

by  /  2 March 2021

Cara Westmark has spent the past year building the case that a drug designed for fragile X syndrome might help coronavirus patients, too.

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February 2021
cells in a mouse brain show the mutations in green.

Molecular switch marks mosaic mutations in mice

by  /  11 February 2021

A new tool enables researchers to create mosaic mutations in only some cells and then accurately identify which cells are affected.

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