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Study finds unexpected role for top autism gene(spectrum)-SETD5, a leading candidate for autism risk, alters the expression of thousands of genes, a new study suggests1. And it does so by modifying a histone, a protein involved in packaging DNA.Some researchers have concerns about the study’s methods, which they say make the results hard to interpret. But if confirmed, the findings would fill in key details about SETD5 that have so far eluded the field.
U.S. initiative grapples with ethical questions on brain research(spectrum)-The Brain Research through Advancing Innovative Neurotechnologies (BRAIN) Initiative, launched by the U.S. National Institutes of Health (NIH) in 2013, has a lofty goal: to unravel the cellular basis of cognition and behavior.Since the initiative’s launch, the NIH has doled out about $1 billion to researchers who are developing tools and technologies to map, measure and observe the brain’s neural circuits. Along the way, the agency has also tried to explore the ethical implications of this research.
Signaling imbalance in mutant mice supports key autism theory(spectrum)-Mice missing a copy of CHD8, a top autism gene, show a signaling imbalance in their brains — a finding in line with a popular hypothesis about autism’s origins.
Massive project doubles list of genes tied to autism(spectrum)-The largest analysis of genetic sequences from autistic people implicates 184 genes in the condition — nearly doubling an estimate from last year.The researchers analyzed sequences of exomes — the protein-coding portions of the genome — pooled from multiple datasets. They built off their unpublished analysis of nearly 35,000 sequences. That analysis, which the team presented at a conference last year, tied 99 genes to autism.
Antidote to ‘poison’ DNA may treat lethal form of epilepsy(spectrum)-The drug works by silencing a DNA segment called a ‘poison exon’ and is expected to enter clinical trials next year. If it works, it offers hope for treating not just Dravet, but other forms of autism as well: Another team has identified a poison exon in SYNGAP1, an autism gene that also causes epilepsy.
CRISPR therapy may reverse autism mutation’s effects well past infancy（spectrum)-Injecting the gene-editing tool CRISPR into the brains of adolescent mice counteracts the effects of a mutation in a top autism gene. The finding suggests that mutations in this gene, SCN2A, may be treatable at any age.
Rare access to fetal tissue yields valuable insights into autism(spectrum)-Autism unfolds early in development, so it makes sense that to understand the condition, scientists would need to study it during that time period. But research with fetal brains poses formidable challenges, both logistical and ethical.
Positive screen for autism often does not spur further evaluation(spectrum)-More than two-thirds of toddlers flagged for autism at doctor visits do not get assessed for the condition by specialists, according to a study of more than 13,000 children1.
Testing gene therapy for autism in mice? Consider your controls(spectrum)-Deleting the mutation from an autism gene may reverse some autism traits in mice, according to a new study.
“I can’t interpret our results,” says Craig Powell, professor and chair of neurobiology at the University of Alabama at Birmingham. “You can’t say that genetic reversal doesn’t work, based on our data, but we can’t interpret it as successful genetic reversal either.”
Film review: Rare realism about autism in ‘The Limits of My World’ (spectrum)-There are stories about how autistic people are changelings, bringing nothing but misery and suffering to their families. And there are inspirational stories about savants — people who can play hundreds of songs from memory or perform brilliant surgeries. Neither of these extremes leaves much space for humanity.
Getting at the heart of autism(spectrum)-Cardiac activity could reveal autism’s physiology and confirm a hunch many clinicians share: that people with autism experience great stress.