Breakthrough in autism spectrum research finds genetic ‘wrinkles’ in DNA could be a cause

“ This work is seminal as there are currently very few neurodevelopmental disorders, inclusive of autism and/or intellectually disability, known to be associated with such “wrinkles” in DNA repeat sequences, which up until now could only be tested for by targeted single gene sequencing; one by one. A well known example is the Fragile X syndrome, which is the only DNA expansion repeat routinely tested for in autism/ID. The paper by Yuen and colleagues describes an important new method for ‘unmasking’ a very high yield of DNA wrinkles (I.e.  repeats) and their significance to autism by systematically sequencing all of our genes at once, by whole genome sequence analyses. The high incidence of DNA repeats found is ground-breaking, adding to copy number variants (CNVs) and single nucleotide variants (SNVs) previously detectable by WGS. For persons and families living with autism, this means there is now a much greater and much earlier ability to recognize autism risk and the underlying genetic causes and core features of one’s autism. Such work is allowing researchers to identify many new genomic disorders, in which autism is a categorical symptom, possibly alongside other co-occurring conditions such as ID, epilepsy, neuromotor, neuropsychiatric concerns or developmental regression. This is because most conditions known to be associated with DNA repeats, CNVs or SNVs in our genome, are often ‘syndromic’ in nature, meaning they present with a collection of health concerns including autism, not autism alone. This in turn helps to inform caregivers and guide management by cause, not by symptoms alone, leading autism into the era of 21st century genomic medicine and personalized health care.”

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