Mosaic mutations, which affect only some of the body’s cells, play a small but meaningful role in autism. Though they are difficult to study, researchers are working to master their complexity.
Spectrum: Autism Research News
Tag: genetic testing
A novel method to evaluate the strength of the evidence linking autism to specific genes could reveal which ones are most useful to screen for.
People with fragile X syndrome in Colombia are diagnosed at age 27, on average, according to the first study to assess diagnosis in the country. By comparison, the average age of fragile X diagnosis in the United States is younger than 4.
People with mutations in distant chromosomal regions often share a range of autism traits, even if they do not meet the diagnostic threshold for autism.
Mutations in genes that encode a histone, which gives structure to chromosomes, can lead to developmental delay and congenital anomalies.
A new technique for masking portions of raw genomic data increases shareability without sacrificing privacy.
Genetic sequences from nearly 53,000 people with autism, developmental delay or intellectual disability reveal strong ties to 98 genes.
A gene therapy for Angelman syndrome stands at the forefront of efforts to treat autism-linked conditions that stem from single genes.