NIH R01 · 2024
Cellular Phenotypes of Genetic Variants in Mucopolysaccharidosis
ABSTRACT There is presently an urgent need to develop methodical approaches to evaluate the function of genomic vari- ants. Clinical genomic testing is growing rapidly, and with it a larger-than-ever number of genetic variants that cannot be defined as either disease-causing or benign. The problem affects clinicians and their patients, who struggle to understand and interpret molecular diagnostic reports, the implications of the results, and how to manage their patients in the absence of definitive information. Systems that involve single cells to generate high-content, high-resolution functional data are of paramount importance to solving the problem posed by var- iants of uncertain…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.