Seeking counsel
Practical and ethical challenges in translational research could be better overcome if clinical researchers were to add genetic counselors to their teams, a new report argues.
Practical and ethical challenges in translational research could be better overcome if clinical researchers were to add genetic counselors to their teams, a new report argues.
Genetic syndromes associated with autism are increasingly being diagnosed in utero because of techniques that can identify subtle mutations in the genome. But the technology is ahead of the ethical debate on whether and how to inform parents about mutations with unknown effects.
Two children with Asperger syndrome have disruptions in the PARK2 gene — one child has a duplication in the gene whereas the other has a deletion — according to a study published in February in the American Journal of Medical Genetics.
A neurotransmitter called VIPR2, or vasoactive intestinal peptide receptor, is a candidate gene for schizophrenia and, potentially, autism, according to a study published in February in Nature.
Mutations in a gene that organizes synapses — the junctions between neurons — may increase the risk of autism, according to a study published in February in Autism Research. The study bolsters evidence linking a pathway involved in cell-to-cell communication to autism.
Researchers have extracted and sequenced DNA from 52 postmortem brains from the Autism Tissue Program, providing a resource to study mutations and gene expression differences in the brains of people with the disorder.
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.
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.
Rare mutations in TSGA14, a component of the centrosome — which is required for the generation of new neurons — may be associated with autism, according to a study published in January in the American Journal of Medical Genetics.
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.