Systems, methods, and computer readable media for using descriptors to identify when a subject is likely to have a dysmorphic feature

Inventors

Gelbman, Dekel • Gurovich, Yaron

Assignees

FDNA Inc

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Publication Number

US-10004463-B2

Patent

Publication Date

2018-06-26

Expiration Date


Abstract

Systems, methods, and computer-readable media are disclosed for identifying when a subject is likely to be affected by a medical condition. For example, at least one processor may be configured to receive information reflective of an external soft tissue image of the subject. The processor may also be configured to perform an evaluation of the external soft tissue image information and to generate evaluation result information based, at least in part, on the evaluation. The processor may also be configured to predict a likelihood that the subject is affected by the medical condition based, at least in part, on the evaluation result information.

Core Innovation

The invention provides an electronic system for determining, from a plurality of time-lapse images of external cranio-facial soft tissue, whether a subject is likely to be affected by a genetic disorder. The system receives first information reflective of a first external soft tissue image recorded at a first time and second information reflective of a second external soft tissue image recorded at a second time, and analyzes each using at least one of anchored cells analysis, shifting patches analysis, and relative measurements analysis.

The system determines a time lapse between an original capture of the first external soft tissue image and an original capture of the second external soft tissue image. The system then compares, based on the determined time lapse, the analysis of the first information with the analysis of the second information, and predicts a likelihood that the subject is affected by the genetic disorder.

The disclosed workflow is longitudinal and uses multiple timepoints reflected by the time-lapse images, including determination of the time lapse using metadata and/or estimating the subject’s age from the images. The analysis and comparison are used to generate dysmorphology descriptor vectors and probability/severity scores for dysmorphic features and medical/genetic conditions, and the evaluation results are used to predict a likelihood of a medical condition.

Claims Coverage

The document includes three independent claims directed to an electronic system, a computer-implemented method, and a non-transitory computer-readable medium. Across these independent claims, there are four shared inventive features: image analysis using anchored cells analysis, shifting patches analysis, and/or relative measurements analysis; determining a time lapse between original captures; comparing the analyses based on the time lapse; and predicting a likelihood of a genetic disorder based on the time lapse and comparison.

Time-lapse genetic disorder likelihood prediction from external cranio-facial soft-tissue images

Receive first information reflective of a first external soft tissue image of the subject recorded at a first time; receive second information reflective of a second external soft tissue image of the subject recorded at a second time; determine a time lapse between an original capture of the first external soft tissue image and an original capture of the second external soft tissue image; compare, based on the determined time lapse, the analysis of the first information with the analysis of the second information; and predict, based on the time lapse and the comparison of the first information and the second information, a likelihood that the subject is affected by the genetic disorder.

Anchored cells, shifting patches, and relative measurements for image analysis

Analyze the first information reflective of the first external soft tissue image using at least one of anchored cells analysis, shifting patches analysis, and relative measurements analysis; and analyze the second information reflective of the second external soft tissue image using at least one of anchored cells analysis, shifting patches analysis, and relative measurements analysis.

Time-lapse determination and comparison-based likelihood prediction

Determine a time lapse between an original capture of the first external soft tissue image and an original capture of the second external soft tissue image; compare the analysis of the first information with the analysis of the second information based on the determined time lapse; and predict a likelihood that the subject is affected by the genetic disorder based on the time lapse and the comparison.

Non-transitory computer-readable medium instructions for time-lapse analysis and prediction

Provide instructions that cause at least one processor to receive first and second information reflective of first and second external soft tissue images recorded at first and second times; analyze each using at least one of anchored cells analysis, shifting patches analysis, and relative measurements analysis; determine a time lapse between original captures; compare analyses based on the time lapse; and predict a likelihood that the subject is affected by the genetic disorder based on the time lapse and the comparison.

All independent claims are directed to predicting a likelihood that a subject is affected by a genetic disorder from time-lapse external cranio-facial soft-tissue images. Each independent claim requires analyzing first and second images using at least one of anchored cells analysis, shifting patches analysis, and relative measurements analysis; determining a time lapse between original captures; comparing analyses based on that time lapse; and predicting the genetic-disorder likelihood from the time lapse and comparison.

Stated Advantages

Provides probability/severity scores for dysmorphic features and medical/genetic conditions based on time-lapse analysis.

Enables prediction of a likelihood that the subject is affected by a genetic disorder based on time lapse and comparison of analyses.

Supports longitudinal monitoring by evaluating changes over time.

Provides privacy-preserving vector-level comparison.

Displays dysmorphology descriptors with heat map and superimposition and provides healthcare provider alerting.

Performs ongoing database updating and alerts for healthcare providers.

Documented Applications

Noninvasively analyzing external cranio-facial soft-tissue images in a time-lapse framework to predict likelihood of genetic disorders and medical conditions.

Longitudinal monitoring of progress of a genetic disorder to determine a change in severity of an attribute over time.

Use of remote storage and periodically received additional external soft tissue images for ongoing evaluation.

Use of healthcare provider alerting based on evaluation results.

Ongoing database updating and alerts for healthcare providers.

Privacy-preserving vector-level comparison of descriptor vectors.

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