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.
As genetic testing becomes routine, people are likely to face difficult choices about parenthood.
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.
Accounting for gender increases the power of family-wide studies linking genetic mutations with autism, according to a study published in December in Molecular Psychiatry. The researchers use this approach to identify two candidate genes for the disorder.
The National Database for Autism Research (NDAR), created by the National Institutes of Health to ease data sharing among autism researchers, has released the first batch of data on more than 10,000 participants enrolled in federally funded autism research studies.
Cells drawn from a small sample of children with autism show defects in the functioning of their mitochondria — structures that produce energy to power cellular functions — according to a study published this week in the Journal of the American Medical Association.
Rapid advances in DNA sequencing technology are enabling researchers to comb quickly — and ever more cheaply — through whole genomes. At the Society for Neuroscience annual meeting in San Diego, Evan Eichler talked to SFARI about what the rapid accumulation of genetic sequence information means for autism research.
What makes a good candidate gene for autism? At the Society for Neuroscience annual meeting in San Diego, John Rubenstein discussed two complementary ways to identify genes involved in autism: start with the DNA, or start with a hypothesis.
Researchers have narrowed down a genetic region associated with autism to one protein, cadherin 8, that helps bind cells together, according to a study published online in October in the Journal of Medical Genetics. This is the first time CDH8, the gene that encodes this protein, has been associated 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.