Endophenotype
Recent articles
Meet the company trying precision medicine for autism
Swiss biotech Stalicla hopes to bring precision medicine to autism. Experts praise efforts to identify autism subgroups, but evidence to support the company’s claims has yet to be seen.
![Brain made up of two different medicines](https://www.thetransmitter.org/wp-content/uploads/2022/06/Stalicla-treatment-autism-844.jpg)
Meet the company trying precision medicine for autism
Swiss biotech Stalicla hopes to bring precision medicine to autism. Experts praise efforts to identify autism subgroups, but evidence to support the company’s claims has yet to be seen.
A whisper of autism: Fragile X carriers and the autism phenotype
Among people who carry the fragile X premutation, about 14 percent of boys and 5 percent of girls meet the criteria for autism, but the ‘broad autism phenotype’ may be far more common.
![Book cover conceptual illustration of chromosome superimposed with genetic tree.](https://www.thetransmitter.org/wp-content/uploads/2022/04/Carriers-844.jpg)
A whisper of autism: Fragile X carriers and the autism phenotype
Among people who carry the fragile X premutation, about 14 percent of boys and 5 percent of girls meet the criteria for autism, but the ‘broad autism phenotype’ may be far more common.
Organoids show how mutations in top autism gene may lead to brain overgrowth in people
The loss of CHD8, a top autism gene, speeds up the production of certain neurons and leads to overgrowth in spheres of cultured brain cells.
![organoids in early stages of development.](https://www.thetransmitter.org/wp-content/uploads/2021/01/CHD8-haploinsufficiency-844.jpg)
Organoids show how mutations in top autism gene may lead to brain overgrowth in people
The loss of CHD8, a top autism gene, speeds up the production of certain neurons and leads to overgrowth in spheres of cultured brain cells.
Traits in mothers may signal gene variants for autism
Autistic children's traits track with subtle, autism-like behaviors in their mothers; women with these traits may also carry a genetic predisposition to the condition.
![Mother and child having a conversation in nature.](https://www.thetransmitter.org/wp-content/uploads/2020/10/20201016-ASD844.jpg)
Traits in mothers may signal gene variants for autism
Autistic children's traits track with subtle, autism-like behaviors in their mothers; women with these traits may also carry a genetic predisposition to the condition.
Siblings of children with autism may process faces their own way
Children who have autistic older siblings have bigger neural responses than controls do in the brain networks that process faces.
![Baby looking up at father's face.](https://www.thetransmitter.org/wp-content/uploads/2020/04/20200416-Face-844.jpg)
Siblings of children with autism may process faces their own way
Children who have autistic older siblings have bigger neural responses than controls do in the brain networks that process faces.
What the ‘broad spectrum’ can teach us about autism
The relatives of autistic people often have mild traits of the condition. Studying these family members could broaden our understanding of autism.
![Man and woman portraits on a 'family tree'](https://www.thetransmitter.org/wp-content/uploads/2019/05/20190515-BAP844.jpg)
What the ‘broad spectrum’ can teach us about autism
The relatives of autistic people often have mild traits of the condition. Studying these family members could broaden our understanding of autism.
Siblings of children with autism may have trouble with motor tasks
Siblings of children with autism have motor difficulties similar to those in autistic children, but milder.
![](https://www.thetransmitter.org/wp-content/uploads/2018/11/siblingmotorskills844.jpg)
Siblings of children with autism may have trouble with motor tasks
Siblings of children with autism have motor difficulties similar to those in autistic children, but milder.
Movement perception, autism traits may share genetic roots
The ability to identify human-like movements is rooted in genetics — and may share those origins with autism traits.
![Genes may partly account for difficulties in processing biological motion.](https://www.thetransmitter.org/wp-content/uploads/2018/02/201802-BiologicalMotion844.jpg)
Movement perception, autism traits may share genetic roots
The ability to identify human-like movements is rooted in genetics — and may share those origins with autism traits.
Social gaze patterns strikingly consistent between identical twins
Identical twins, who have virtually the same genetic material, show highly similar patterns of eye movements when looking at faces, suggesting that social gaze is hardwired.
![Spectrum from The Transmitter.](https://www.thetransmitter.org/wp-content/uploads/2024/11/tt-old-image-replacement-article-thumbnail-1024x683.png)
Social gaze patterns strikingly consistent between identical twins
Identical twins, who have virtually the same genetic material, show highly similar patterns of eye movements when looking at faces, suggesting that social gaze is hardwired.
Treatment eases fragile X symptoms in flies, mice
Blocking an enzyme involved in learning and memory corrects brain abnormalities and improves memory in fly and mouse models of fragile X syndrome.
![Spectrum from The Transmitter.](https://www.thetransmitter.org/wp-content/uploads/2024/11/tt-old-image-replacement-article-thumbnail-1024x683.png)
Treatment eases fragile X symptoms in flies, mice
Blocking an enzyme involved in learning and memory corrects brain abnormalities and improves memory in fly and mouse models of fragile X syndrome.
Explore more from The Transmitter
Cracking the code of the extracellular matrix
Despite evidence for a role in plasticity and other crucial functions, many neuroscientists still view these proteins as “brain goop.” The field needs technical advances and a shift in scientific thinking to move beyond this outdated perspective.
![Colorful illustration of a latticework of proteins.](https://www.thetransmitter.org/wp-content/uploads/2025/01/ECM-Molofsky-neuroscience-1200-1024x692.png)
Cracking the code of the extracellular matrix
Despite evidence for a role in plasticity and other crucial functions, many neuroscientists still view these proteins as “brain goop.” The field needs technical advances and a shift in scientific thinking to move beyond this outdated perspective.
Huntington’s disease gene variants past a certain size poison select cells
The findings—providing “the next step in the whole pathway”—help explain the disease’s late onset and offer hope that it has an extended therapeutic window.
![A repeated DNA strand extends farther from the left side of the image with each iteration.](https://www.thetransmitter.org/wp-content/uploads/2025/01/1200-hungintons-disease-repeats-cell-death-neuroscience-1024x683.png)
Huntington’s disease gene variants past a certain size poison select cells
The findings—providing “the next step in the whole pathway”—help explain the disease’s late onset and offer hope that it has an extended therapeutic window.
X marks the spot in search for autism variants
Genetic variants on the X chromosome, including those in the gene DDX53, contribute to autism’s gender imbalance, two new studies suggest.
![Research image highlighting different brain regions.](https://www.thetransmitter.org/wp-content/uploads/2025/01/1200-transmitter-neuroscience-DDX53-genetic-variants-1024x683.png)
X marks the spot in search for autism variants
Genetic variants on the X chromosome, including those in the gene DDX53, contribute to autism’s gender imbalance, two new studies suggest.