Alex Feltus part of study that may connect Neanderthal DNA and autism

June 20, 2024

Professor Dr. Alex Feltus is part of a new collaborative research study that found some genetic traits modern humans inherited from Neanderthals may increase a person’s susceptibility to autism. The study suggests long-term effects of ancient human hybridization on brain organization and function and could possibly lead to earlier diagnosis.

“This is the first evidence that I am aware of actually showing that Neanderthal DNA is associated with autism,” said Dr. Feltus.

In this study, the researchers used data from publicly available data bases: Simons Foundation Powering Autism Research (SPARK). They found specific Neanderthal genetic markers were enriched in people with autism compared to ethnically-matched control groups.

However, this does not mean that everyone who has these Neanderthal-derived variations will develop autism. The hypothesis of the study is instead, that Neanderthals gave us some of the gene tweaks that give a higher susceptibility for autism.

“Autism is a complex trait. It is controlled by many, many genes. A big part of what we do in my lab is try to understand the level of complexity,” said Dr. Feltus. “Of the 60,000 genes in the human genome, how many genes are at play when you’re developing autism or cancer or any other complex trait? We embrace complexity. We don’t try to erase complexity.”

Detailed findings were published in the journal Nature: Molecular Psychiatry in an article titled “Enrichment of a subset of Neanderthal polymorphisms in autistic probands and siblings.”


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