Tag: genetic testing

June 2018
News

Mutations in autism gene may trigger milder effects than does its loss

by  /  20 June 2018

People with mutations in SHANK3 have milder features than do those missing a chunk of DNA that includes the gene.

0 Comments
Opinion / Viewpoint

Genetic testing, counseling crucial in people with developmental delay

by ,  /  19 June 2018

Referring children with developmental delay to a clinical geneticist for testing and counseling helps families and advances research.

0 Comments
Big baby plays with two connected rings while two scientists with clipboards look on.
Opinion / Viewpoint

Traits of other conditions may spur autism

by ,  /  12 June 2018

Early features of other conditions may contribute to autism itself

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.

0 Comments
Opinion / Viewpoint

For accurate results in autism, genetic databases need diversity

by ,  /  10 April 2018

We must diversify databases of reference DNA to improve our ability to interpret the consequences of genetic variation.

0 Comments
March 2018
Opinion / Viewpoint

Explaining ‘resilience’ in autism may seed new therapies

by  /  27 March 2018

Some individuals who have autism mutations show no signs of the condition; understanding why may lead to treatments.

0 Comments
Opinion / Viewpoint

How variability among mouse strains can aid autism research

by  /  21 March 2018

Researchers can convert the distinct genetic backgrounds of lab mice from a problem to an advantage, exploiting the differences to advance our understanding of autism.

0 Comments
Opinion / Viewpoint

How to improve mouse models’ usefulness for understanding autism

by  /  20 March 2018

Integrating human-specific genetic elements into mice may provide a permissive, ‘humanized’ environment for studying autism.

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.

0 Comments
January 2018
illustration of DNA strand
News

Variant analysis may vastly underestimate heritability of autism behaviors

by  /  29 January 2018

Existing genome scans do not detect many of the DNA variants that underlie behavioral problems.

3 Comments
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