Single-Cell Analysis of Somatic Mutation Burden

Technology Description

This invention is a single-cell genotyping assay for direct measurement of the mutational damage present in individual human skin cells. The ability to detect somatic mutations in single skin cells eliminates “averaging” effects from bulk tissue sampling to enable genomic profiles of individual cells to be captured and quantified. 

Advantages

• Genotype and measure somatic mutation burden in individual skin cells
• Minimally-invasive measurement technique
• Quantitative measurements of mutational/UV-sun damage in normal skin

Application

• Biomarker to predict risk of skin cancer and photo-aging

o   Flag potentially pre-cancerous cells to

§Facilitate personalized screenings

§Enact prevention strategies to reduce risk of developing skin cancer

o   Proactively implement lifestyle changes in advance of physical signs of skin aging

• Aging biomarker to identify extent and rate of skin aging at molecular level 

Looking for Partners

To commercialize the technology

Stage of Development

Proof-of-concept

Data Availability

Under CDA

Related Materials

• The genomic landscape of individual melanocytes from human skin. Nature. 2020 Oct 586, 600-605.
• International Application No. PCT/US2021/019375

Patent Status

Patent Pending