NIH / Office of the Director

The NIH Common Fund Genotype-Tissue Expression project (GTEx) collected whole-genome sequencing and gene expression data from 47 tissues sites of hundreds of subjects. It generated a huge impact by providing tissue-level gene expression and expression quantitative trait loci (eQTLs) for over 7,000 publications. However, tissues are mixtures of myriad cells, and tissue-level gene regulation is affected by cellular compositions. To obtain cell-type-specific (CTS) effects, GTEx started to collect single-nucleus RNA-sequencing (snRNA-seq) data from eight tissue types.

DESCRIPTION (provided by applicant): Differences in our individual genomes give rise to most of human diversity. This uniqueness of every human being underpins the purpose of precision medicine, which posits that disease prediction, diagnosis, and treatment for each individual is based on personal genomic variations. The rapid advancement of genome editing technology has led to numerous promising preclinical studies in muscular dystrophies (MDs).

This request is for funds to purchase a dual line Nikon multiphoton system equipped with a resonant and galvonometer driven scan head and 4 GaAsP detectors. This instrument will be housed within the Center for Biologic Imaging (CBI) at the University of Pittsburgh School of Medicine. The mandate of this core facility is to provide access to a full range of light and electron optical, image analysis, and morphometric methods to all research groups within the University of Pittsburgh School of Medicine. Multiphoton microscopy is an essential service provided by the center.

The requested instrumentation in this proposal is a high resolution mass spectrometer coupled to an ultra high performance liquid chromatograph (UHPLC) system that will be used for untargeted metabolomics and lipidomics experiments. Specifically, we are requesting funds for a ThermoFisher Scientific Q Exactive Plus with Vanquish UHPLC. This instrument will be housed in the University of Pittsburgh Biomedical Mass Spectrometry Center (BioMS Center).