Matthew State is both a dedicated clinician and a world-class geneticist, but his diplomatic style is a relic of his former adventures in politics.
Spectrum: Autism Research News
Tag: rare variants
Duplication or deletion of 16p11.2 — a much-studied chromosomal region with a strong association with autism — is present in 0.76 percent of people with the disorder, according to a meta-analysis published February in Genetics in Medicine.
Two new studies of families carrying glitches on a region of chromosome 16, which has been strongly associated with autism, reveal the wide range of effects caused by the variant and narrow the list of possible culprit genes.
Researchers have identified a rare genetic variant linked to autism in DLX1, a gene that regulates the growth of neurons, they reported in December in the American Journal of Medical Genetics.
The pattern of interactions among different genes in yeast cells changes in response to disease-like conditions, in this case a DNA-damaging agent, according to a study published 3 December in Science. Mapping epistasis — how various cellular factors work together — is key to understanding complex disorders, such as autism.
Two independent groups have created mice that have deletions or duplications in a large section of chromosome 16. Each team has produced an animal with a different set of features, some of which — such as large head size and repetitive behaviors — are reminiscent of people with autism.
Chromosome 15 may harbor one or more risk genes for autism, according to a new study of multigenerational inheritance in Utah. Researchers have gathered data on family pedigrees stretching back as far as nine generations, with up to five family members affected by the disorder.
A new mouse model of Angelman syndrome that knocks out a large stretch of a key chromosome is clarifying some of the molecular mechanisms underlying the more severe forms of the disorder.