Tag: genetic testing

May 2019
Genome sequence. The pattern of bands represents the chemical sequence that forms the genetic code for a section of DNA (deoxyribonucleic acid). The DNA sample was cut into fragments by an enzyme. These fragments were then placed into a gel in the petri dish and separated by electrophoresis, the application of an electric charge. DNA sequencing is used in forensic science, medical research and genealogy.
Opinion

Repairing racial inequality in genetic research

by ,  /  10 May 2019

To boost the participation of marginalized communities in genetic studies, doctors must first win back their trust.

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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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April 2019
Hands on background of microarray and other genetic information
News

Genetic testing for autism, explained

by  /  10 April 2019

No genetic test can say whether a person has autism, but it may point to a cause for the condition or for any related complications.

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human making connections
Opinion / Viewpoint

Sharing genetic results can advance autism science, medical care

by ,  /  9 April 2019

People with autism and their families can be important partners in understanding the genetics of autism by agreeing to share their genetic data.

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March 2019
Multimedia / Podcasts

Spectrum Stories: The benefits of genetic testing in autism

by  /  18 March 2019

Finding a mutation linked to autism traits can have life-changing consequences for autistic individuals and their families.

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February 2019
Portrait of Ivan Iossifov
Multimedia / Webinars

Webinar: Ivan Iossifov discusses genetic variants linked to autism traits

27 February 2019

Watch the complete replay of Ivan Iossifov discussing the genetic basis of autism’s features.

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Gabin and his father at home in Paris.
Features / Deep Dive

Europe’s race to ramp up genetic tests for autism

by  /  13 February 2019

Many countries in Europe are reckoning with the growing demand for genetic tests for autistic people — and the accompanying ethical and scientific considerations.

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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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illustration shows woman under umbrella, with genes falling like rain
Opinion / Viewpoint

Expliquer la résilience à l’autisme peut faire naître de nouvelles thérapies

by  /  18 January 2019

This article is also available in anglais. Il y a quelques années la mère d’un jeune autiste m’a téléphoné. Elle venait d’apprendre que son fils, qui était dans la vingtaine, avait une délétion de SHANK3, l’un des gènes qui, d’après les découvertes de mon équipe, subit une mutation chez certaines personnes autistes. Cette nouvelle m’a […]

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