Genetic testing
Leveraging the power of community to strengthen clinical trials for rare genetic syndromes
Families can become not only participants but champions of these research efforts.
![A hand holds a stack of speech bubbles.](https://www.thetransmitter.org/wp-content/uploads/2024/07/NEW-landscape-1200-1024x692.webp)
Leveraging the power of community to strengthen clinical trials for rare genetic syndromes
Families can become not only participants but champions of these research efforts.
Spectrum 10K consultation report delayed
The U.K.-based genetics study launched the consultation more than a year ago in response to fierce criticism from autistic self-advocates.
![two people sit on opposite edges of a cliff](https://www.thetransmitter.org/wp-content/uploads/2024/03/Spectrum10Kautism-1200-1024x692.webp)
Spectrum 10K consultation report delayed
The U.K.-based genetics study launched the consultation more than a year ago in response to fierce criticism from autistic self-advocates.
Abundant motor proteins disrupt cries in FOXP2 mice
Knocking down the gene that codes for the proteins normalizes the vocalizations.
![Research image of neurons.](https://www.thetransmitter.org/wp-content/uploads/2023/07/1200-lede-foxp2-autism.png)
Abundant motor proteins disrupt cries in FOXP2 mice
Knocking down the gene that codes for the proteins normalizes the vocalizations.
Change of heart and mind: Autism’s ties to cardiac defects
Children with congenital heart disease have an increased likelihood of autism. Why?
![Illustration of half of a brain on the left and half of a heart on the right](https://www.thetransmitter.org/wp-content/uploads/2023/07/1200-trends-heart-defects-autism-1.jpg)
Change of heart and mind: Autism’s ties to cardiac defects
Children with congenital heart disease have an increased likelihood of autism. Why?
Mapping genetic influences on the infant brain: A chat with Rebecca Knickmeyer
Researchers know little about the ways genetic variants affect development in the infant brain. Knickmeyer, who launched the Organization for Imaging Genomics in Infancy, has spent the past five years trying to close the gap.
![MRI scan of a 2-year-old child.](https://www.thetransmitter.org/wp-content/uploads/2023/02/844-infant-genetic-influences-autism-cc.png)
Mapping genetic influences on the infant brain: A chat with Rebecca Knickmeyer
Researchers know little about the ways genetic variants affect development in the infant brain. Knickmeyer, who launched the Organization for Imaging Genomics in Infancy, has spent the past five years trying to close the gap.
Whole-genome trove ties new genes, variants to autism
A massive update to the MSSNG dataset gives qualified researchers ready access to explore autism’s genetic architecture on a cloud-based platform.
![An illustration of doctors examining a larger-than-life DNA strand](https://www.thetransmitter.org/wp-content/uploads/2022/12/844_MSSNG_121122.jpg)
Whole-genome trove ties new genes, variants to autism
A massive update to the MSSNG dataset gives qualified researchers ready access to explore autism’s genetic architecture on a cloud-based platform.
‘Assembloids’ lay bare autism-linked genes that hamper neuron development
The model enables the study of autism-linked genes at the earliest stages of neural development.
![Image displaying impeded interneuron development.](https://www.thetransmitter.org/wp-content/uploads/2022/11/844-assembloids-autism-linked-genes-neuron-development.png)
‘Assembloids’ lay bare autism-linked genes that hamper neuron development
The model enables the study of autism-linked genes at the earliest stages of neural development.
How geneticists can gain greater buy-in from the autistic community
My recommendations aim to foster a collaborative relationship between researchers and the Autistic community, resulting in an increase in the availability of genetic data.
![Human silhouettes are seen against a colorful, abstract representation of a genetic sequence.](https://www.thetransmitter.org/wp-content/uploads/2022/09/Wrigley-Kline-genetics-ethics-autism-844.jpg)
How geneticists can gain greater buy-in from the autistic community
My recommendations aim to foster a collaborative relationship between researchers and the Autistic community, resulting in an increase in the availability of genetic data.
How an expert panel evaluates genes for autism genetic tests
About 15 percent of genes currently included in clinical genetic tests for autism or intellectual disability don’t have enough evidence to support their ties to the conditions, the panel found.
![Scientist examining DNA (deoxyribonucleic acid) results on a screen in a laboratory.](https://www.thetransmitter.org/wp-content/uploads/2022/07/ID-sequence-panels-autism-844.jpg)
How an expert panel evaluates genes for autism genetic tests
About 15 percent of genes currently included in clinical genetic tests for autism or intellectual disability don’t have enough evidence to support their ties to the conditions, the panel found.
The most personalized medicine: Studying your own child’s rare condition
A handful of scientists are committed to advancing research on the autism-related genetic conditions their own children have.
![](https://www.thetransmitter.org/wp-content/uploads/2022/07/Dr.-Michael-Boland-lab-844.jpg)
The most personalized medicine: Studying your own child’s rare condition
A handful of scientists are committed to advancing research on the autism-related genetic conditions their own children have.
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![Research image of neurons in the fly’s ventral nerve cord.](https://www.thetransmitter.org/wp-content/uploads/2024/07/lede-motormodules-1200-1024x692.webp)
New connectomes fly beyond the brain
Researchers are mapping the neurons in Drosophila’s ventral nerve cord, where the central nervous system meets the rest of the body.
Building an autism research registry: Q&A with Tony Charman
A purpose-built database of participants who have shared genomic and behavioral data could give clinical trials a boost, Charman says.
![Illustration of researchers talking to laypeople amidst strands of DNA.](https://www.thetransmitter.org/wp-content/uploads/2024/07/1200_Charman-1024x687.webp)
Building an autism research registry: Q&A with Tony Charman
A purpose-built database of participants who have shared genomic and behavioral data could give clinical trials a boost, Charman says.
Cerebellar circuit may convert expected pain relief into real thing
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![](https://www.thetransmitter.org/wp-content/uploads/2024/07/paincircuit-1200-1024x692.webp)
Cerebellar circuit may convert expected pain relief into real thing
The newly identified circuit taps into the brain’s opioid system to provide a top-down form of pain relief.