On today’s ASF podcast, ASF funded researcher Ileena Mitra from the lab of Dr. Melissa Gymrek at UCSD will explain a new type of “de novo” genetic mutation. Those are those spontaneous mutation that happen in kids with ASD but not parents or family members. So where did they come from? Well, this study looks at a mutation that affects tandem repeats, which are those repeating DNA sequences: CGG CGG CGG CGG. A newly built bioinformatics platform showed that these mutations may account for 1.6% of simplex (one person in the family is affected). Likely we are going to hear more about these types of mutations in ASD, so listen to the scientist explain the science herself!

https://www.nature.com/articles/s41586-020-03078-7