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Tag: tuberous sclerosis

October 2020
Ralf Schmid, the research director in Neurodevelopmental diseases at the Gene Therapy Program Orphan Disease Center, loads replicated mouse dna into wells in the gel before applying electric current to test the viability of the dna.
Features / Deep Dive

A quest for Quincy: Gene therapies come of age for some forms of autism

by ,  /  14 October 2020

A gene therapy for Angelman syndrome stands at the forefront of efforts to treat autism-linked conditions that stem from single genes.

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August 2020
Micrograph of neurons in mouse brain.
News

Inside scientists’ quest to map, modulate social circuits in autism

by  /  17 August 2020

A growing number of studies are revealing circuits that may underlie social challenges in autism — and how to fine-tune them.

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March 2020
Opinion / Viewpoint

Telehealth may enable remote participation in autism trials

by  /  3 March 2020

Some families do not have the financial ability or time to participate in clinical trials for autism. New technologies may enable them to participate from their homes.

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November 2019
News

Mouse study reveals overlooked target for autism therapies

by  /  20 November 2019

Blocking one form of an enzyme implicated in autism eases unusual behaviors and seizures in mice missing a top autism gene.

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October 2019
a human brain model made of springs is shaking on its spring base
News

The link between epilepsy and autism, explained

by  /  21 October 2019

Autism and epileptic seizures often go hand in hand. What explains the overlap, and what does it reveal about autism’s origins?

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September 2019
row of babies playing with toys that look like genome sequence
Opinion / Viewpoint

Studies of tuberous sclerosis may shed light on biology of autism

by  /  24 September 2019

Tuberous sclerosis provides a unique opportunity to understand autism because about half of people with that single-gene condition also have autism.

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News

Slow, disorderly brain waves may flag autism in toddlers

by  /  23 September 2019

Certain patterns of electrical activity in the brain may signal autism in children with tuberous sclerosis complex, a related genetic condition.

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August 2019
News

Trial results temper hopes of tumor drug for treating autism

by  /  29 August 2019

A drug that treats tumors and epilepsy in people with tuberous sclerosis complex does not boost their intelligence or ease autism traits.

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May 2019
Computational Modeling of BRSK2 Missense Variants
News

Matchmaking site for genes leads scientists to autism candidate

by  /  6 May 2019

A website called GeneMatcher has helped researchers identify a new gene for intellectual disability, developmental delay and autism.

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February 2019
Close up of mouse shows whiskers
News

Four sets of mice call popular autism theory into question

by  /  25 February 2019

An analysis of four mouse models negates certain assumptions underlying the signaling imbalance theory of autism.

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