Single Sperm Sequencing Assay for Prediction of Autism Risk and as a Substitute for Manual Sperm Analysis

Cornell University Technology Overview
Current sperm characterization methods focus primarily on DNA analysis. Methods to profile the RNA or cDNA information in an individual sperm do not exist. By using a novel cDNA synthesis methodology, chemistry, and computational analysis, the inventors were able to determine the amount of RNA expressed for each gene that is present in an individual sperm cell. The assay can screen from tens to hundreds of thousands of individual sperm from a single sample.
This technology can be used as a screen for autism, schizophrenia, and other neurological diseases associated with older fathers, often called the paternal age effect (PAE). There is an increase in mutations in offspring of older fathers, and as such, there are DNA and RNA markers in the sperm that can indicate risk for these diseases. In the past, bulk sperm sequencing techniques have been employed, however, these mutations occur at too low a frequency to be detected accurately using these methods.
Another application of sperm profiling would be as a replacement for manual sperm analysis procedures performed as part of an infertility evaluation. Sperm analysis requires an andrologist to manually evaluate and count sperm. This sequencing technique provides a cost-effective, novel, automated genetic metric that examines the overall quality of a sperm sample.
Further Details
Tomoiaga D. et. al., Single-cell, human sperm transcriptomes and variants from fathers of children with and without autism spectrum disorder. NPJ Genom Med, 2020.
Automated and cost-effective system for accurate analysis of single sperm cells.

Can be used to assess risk for the development of numerous disease in future offspring including, autism, schizophrenia, bipolar disorder, Down syndrome etc.
Sperm sample assessment in fertility clinics
Can also be used for sperm analysis in other mammals.


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