The list of high-confidence autism-linked genes has expanded to 253, according to a new preprint, which also offers new insights into how the genes relate to other conditions and the biological pathways they share. Genes harboring rare, de novo variants linked to autism, or to neurodevelopmental conditions more broadly, differ in their biological roles and […]
Coming of age: Some biomarkers of aging, such as DNA methylation in specific bodily systems, differ between autistic and non-autistic people, according to a new preprint. Overall, global epigenetic measures of aging were similar in the two groups, but differences in methylation emerged in the brain and blood systems. Among people with autism, elevated DNA […]
Content note: This article discusses suicide. You may have seen “Peter Pan Girl” videos circulating on Instagram and TikTok, all about Christina Toni Kulusich, a woman who goes to Disneyland regularly, then finds a cast member playing Peter Pan so she can talk to him and give him gifts. She is often seen in her […]
Across multiple mouse models carrying different autism-linked variants, gene activity in the prefrontal cortex fell into two opposing patterns, a large transcriptomic study shows. In one, genes involved in communication between neurons were less active than usual, whereas genes involved in regulating DNA and processing RNA were more active. The second group showed the reverse […]
Two roads diverge: Human brain organoids missing the gene TSC2 have overreactive astrocytes that are similar to those found in tubers from people with tuberous sclerosis complex, according to a new study. The findings substantiate the idea that glial pathology results from altered protein expression and activity—specifically, high mTORC1 signaling—rather than from seizures themselves. “These […]
A simple protocol produces organoids that display molecular features of the front or rear of the human cortex, according to a new study. The technique could provide better cell-based models of autism and other neurological conditions that involve region-specific changes, the study suggests. Briefly exposing neocortical organoids to signaling molecules called morphogens prompts them to […]
Huda Zoghbi encountered her first patient with Rett syndrome as a medical resident at a genetics clinic in Texas in the 1980s. The meeting had a profound personal impact, setting Zoghbi on her professional course to try to understand the basis of this devastating genetic condition. Rett syndrome, which results in autism and neurological problems, […]
Last month, the panel that advises the U.S. government on autism research funding adopted a new strategic plan. The Interagency Autism Coordinating Committee (IACC) de-emphasized genetics and called for more research on environmental factors and the causes of regression, among other topics. We interviewed IACC chair Sylvia Fogel, a psychiatrist and instructor at Harvard Medical […]
T he researchers successfully transplanted the human organoids into 25 out of 29 newborn engineered mice. The human-derived tissue proliferated, taking over the space and growing 4.7-fold between two and three months after transplantation. The grafts integrated into the mouse nervous system, and the mice performed similarly to wildtype controls on motor, learning and social […]
Loose links: Associations between various early-life factors and later-life diagnoses of autism or attention-deficit/hyperactivity disorder appear to be weakening, according to a new study. Children diagnosed with either condition differ from children without these conditions on such factors as birth weight and household income. But an analysis of records from a Danish registry revealed that […]
Strong negative reactions to everyday stimuli, such as the feeling of clothes on skin or the sounds of ambient noises, are uniquely linked to anxiety and autism, and not to other neuropsychiatric conditions such as attention-deficit/hyperactivity disorder, according to a new study. These responses, termed sensory over-responsivity, have long been part of the diagnostic criteria […]
Group effect: Two new studies report on approaches to tackle a long-standing problem in autism research: There are many autism candidate genes—often de-novo variants—but any particular gene is rare in a population of autistic people. The first preprint crunched data from past studies to create an atlas of organoid models and, with predictive modeling, explored […]
