Autism spectrum disorder assessment via alternative polyadenylation analysis

The method of assessing autism spectrum disorder (ASD) by determining alternative polyadenylation (APA) parameters in a sample addresses the need for improved diagnostic tools, enabling early and accurate diagnosis of ASD, particularly ASD level 1, through non-invasive means.

WO2025078620A1 Publication Date: 2025-04-17DEUTES KREBSFORSCHUNGSZENT STIFTUNG DES OFFENTLICHEN RECHTS +1
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Patent Information

Application Number
PCT/EP2024/078720
Authority / Receiving Office
WO · WO
Patent Type
Applications
Current Assignee / Owner
Priority Date
2023-10-13
Filing Date
2024-10-11
Publication Date
2025-04-17

AI Technical Summary

Technical Problem

Current diagnostic methods for autism spectrum disorder (ASD) lack a reliable molecular test, relying mainly on behavioral criteria, and there is a need for improved methods to assess ASD, particularly for early diagnosis and assigning patients to appropriate treatments.

Method used

A method involving the determination of alternative polyadenylation (APA) parameters in a sample, comparing these parameters to a reference, and using the results to assess ASD. This method specifically focuses on mRNA 3'UTR lengths of certain genes to identify APA-linked susceptibility genes.

Benefits of technology

The method provides an improved means for diagnosing ASD, particularly for light forms like ASD level 1, using non-invasive blood samples, enabling early detection and potentially guiding more effective treatment strategies.

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Abstract

The present invention relates to a method for assessing an autism spectrum disorder (ASD) in a sample from a subject, the method comprising (a) determining a parameter of alternative polyadenylation (APA parameter) in said sample; (b) comparing the APA parameter determined in step (a) to a reference, and (c) based on the comparison in step (b), assessing said ASD. The present invention also relates to polynucleotides, means for determining an APA parameter for use in diagnosis, databases, devices, and further methods related thereto.
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