About Amy Clugston

President of SWAN USA www.swanusa.org and mother of Lorna who remained undiagnosed for 18 years before finding her mutation in the DYRK1A. Her mutation is an insertion of a letter G that causes a frameshift that then causes a premature stop codon.

DYRK1A Mentioned in NIH Lecture

In October 2014 Nature published an article about disruptive genes found in Autism. It described the findings of a large study using exome sequencing on nearly 2500 patients with Autism Spectrum Disorder (ASD). They found recurrent disruptive mutations in 6 genes that may contribute to 1% of sporadic cases of Continue reading DYRK1A Mentioned in NIH Lecture