After a decade of working with the Phelan-McDermid Syndrome Foundation, Geraldine Bliss has co-founded a new organization to develop therapies for the condition.
Spectrum: Autism Research News
People with mutations in SHANK3 have milder features than do those missing a chunk of DNA that includes the gene.
Two researchers balk at talk that Wi-Fi and autism are linked, changes in an autism risk gene are tied to obsessive-compulsive traits in three species, and scientists plan to conduct a census of all of the brain’s cell types.
Families need more support from researchers in order for their heroic efforts to be optimally effective.
More than 40 percent of children with Phelan-McDermid syndrome lose skills they once had, beginning, on average, at age 6.
The autism-linked gene SHANK3 is known for its role at neuronal junctions, but it has another function that could serve as a drug target.
Many characteristics of Phelan-McDermid syndrome — an autism-linked disorder arising from abnormalities at the tip of chromosome 22q13 — change as individuals age.
Mice with a duplication of SHANK3, a gene with strong links to autism, are hyperactive and manic, reports a study published 7 November in Nature.
A new stem-cell model of Phelan-McDermid syndrome points to a possible treatment for the rare autism-related disorder, according to a study published in Nature.