Value Proposition
· Predictive Power: Provides an early non-invasive method to assess an offspring’s risk of autism before birth using paternal semen
· Personalized Insight: Adapts risk prediction to individual genetic and epigenetic profiles
· Environmental Sensitivity: Accounts for the impact of environmental factors on ASD risk
· Platform-Agnostic: Analysis can be performed using various DNA methylation analysis techniques
Unmet Need
Autism Spectrum Disorder (ASD) affects millions of individuals, and early identification of the risk of having a child with ASD remains a challenge. Currently, predictive methods are limited with a need for better tools to assess the risk of ASD based on genetic and epigenetic factors. There is an unmet need to develop a reliable method for predicting ASD risk in offspring, particularly one that leverages DNA methylation markers in prospective parents.
Technology Description
Researchers at Johns Hopkins have developed a method for assessing the risk of having offspring with ASD by analyzing DNA methylation patterns in paternal semen samples. The method identifies differentially methylated regions (DMRs) in specific genes and uses these patterns to generate a risk score for ASD. By comparing the methylation status of DMRs in subjects at risk of having offspring with ASD to control DNA methylation statuses, researchers have established a predictive model. This method also allows for the assessment of how environmental factors may influence methylation patterns and ASD risk.
Stage of Development
· Pre-Clinical
Data Availability
· In vitro studies with human semen samples
Looking for Partners to:
Develop and commercialize a predictive diagnostic tool for assessing ASD risk in prospective parents
Publication
· Feinberg JI, et al. Epigenetic changes in sperm are associated with paternal and child quantitative autistic traits in an autism-enriched cohort. Mol Psychiatry. 2024 Jan;29(1):43-53. doi: 10.1038/s41380-023-02046-7
