Multiplexed Crispr Genotyping for Apol1

Publication: WO2024220581A2
Published: 2024-10-24
Family Size: 2
Granted: No

Simple SummaryContent extracted from patent full text and abstract with AI.

This invention describes a CRISPR-based, multiplexed genotyping system for rapid, point-of-care detection of clinically relevant variants in the human APOL1 gene. The system leverages distinct Cas enzymes and customized crRNAs to identify multiple APOL1 genotypes, including both G1 and G2 risk alleles, in a single reaction using either a fluorescence-based or lateral-flow assay. The solution is designed to enable fast, accurate, and cost-effective genetic risk assessment for kidney disease, particularly in populations where APOL1 variants are prevalent, without needing advanced laboratory infrastructure.

Use CasesContent extracted from patent full text and abstract with AI.

  • Rapid APOL1 genotyping at the point-of-care in clinics, hospitals, or resource-limited settings.
  • Screening living kidney donors and recipients for APOL1 risk variants to inform transplantation risk and outcomes.
  • Population genetic screening in communities with high prevalence of APOL1 risk alleles.
  • Integrating into diagnostic workflows for early detection of genetic risk for kidney diseases in high-risk individuals, especially those of sub-Saharan African descent.
  • Supporting personalized therapeutic or preventative strategies based on APOL1 genotype.
  • Field diagnostics and epidemiological studies requiring fast, scalable genetic testing without sequencing equipment.

BenefitsContent extracted from patent full text and abstract with AI.

  • Enables detection of multiple APOL1 genotypes (six in total) in a single, multiplexed reaction, improving efficiency and throughput.
  • Point-of-care compatibility allows use outside conventional laboratories, increasing accessibility to genetic testing.
  • Lateral flow readout provides a simple, equipment-free method with visually interpretable results.
  • Reduces the time from sample to result compared to PCR/sequencing-based methods (potentially from weeks to hours).
  • Lower costs and technical barriers make genetic testing feasible in resource-limited or decentralized healthcare settings.
  • High accuracy and specificity shown by performance comparable to Sanger sequencing, with potential for widespread clinical adoption.
  • Reduces reliance on race as a surrogate for APOL1 risk, allowing for direct and individualized assessment of genetic predisposition to kidney disease.

Technical Classifications (CPCs)

Main Classifications

Chemistry & Materials Science

Sub Classifications

Biochemistry, Beer & Spirits

CPC Codes

C12Q1/6883

Inventors & Applicants

Applicants

Massachusetts Gen Hospital

Beth Israel Deaconess Medical Ct Inc

Max Delbruck Centrum Fur Molekulare Medizin in der Helmholtz Gemeinschaft

Univ Berlin Charite

Patent Abstract

The invention features compositions and methods for multiplexed, point-of-care compatible CRISPR assays for precise genotyping of human APOL1 variants.

Key Information

Publication No.

WO2024220581A2

Family ID

93153468

Publication Date

2024-10-24

Application No.

US2024025047W

Application Date

2024-04-17

Priority Date

2023-04-17

Granted

No

Possible Cooperation

For further information please contact the transfer office.