# MorPhiC: Constructing a Catalog of Cellular Programs to Identify and Annotate Human Disease Genes

> **NIH NIH U01** · STANFORD UNIVERSITY · 2024 · $495,232

## Abstract

PROJECT SUMMARY
Genome-wide studies have now identified hundreds of thousands of associations between genes or genetic
loci and human phenotypes, each of which could reveal mechanistic insights about disease biology. Yet, the
cell-type specific functions of most of these genes remain unknown, and we currently lack the ability to connect
these genes into cellular programs and thereby reveal the pathways important for disease. To address this
limitation, our proposed Data Analysis and Validation Center aims to work together with the MorPhiC
Consortium to build a Catalog of Cellular Programs — i.e. a map of which genes work together in biological
pathways and their corresponding multimodal molecular and cellular phenotypes, in defined cell types or
states.
Our team brings a diverse set of expertise in computational genomics, methods and technology development,
experimental design, interdisciplinary collaboration, consortium organization; and includes new junior
investigators who will bring new forward-thinking ideas and tools to MorPhiC. We have developed a wave of
innovative methods integrating CRISPR, single-cell, imaging, and human genetics data that will enable building
such a Catalog of Cellular Programs and applying this Catalog to understand the genetics of human disease.
The goals of our Center are to: (i) Define single-layer phenotypes, by applying a suite of computational
state-of-the-art approaches for analysis and modeling of RNA, ATAC, and imaging data; (ii) define a
multi-modal representation of molecular and cellular phenotypes, by identifying modules of features that
co-vary across perturbations and single cells; (iii) build a Catalog of Cellular Programs that links genes to the
molecular and cellular phenotypes they control, by inferring causal gene regulatory networks from perturbation
data; (iv) apply the Catalog of Cellular Programs to demonstrate its utility identifying causal genes and
programs for human diseases; and (v) participate in Collaborative Activities with MorPhiC, including to guide
experimental design and ensure utility, robustness, and interoperability of Phase 1 datasets.
Together, these aims will develop novel computational toolkits to infer causal gene regulatory networks from
multi-modal perturbation data; construct a Catalog of Cellular Programs as a foundational resource for
MorPhiC and the broader community; and demonstrate the utility of this Catalog through application to
understand the genetics of human diseases.

## Key facts

- **NIH application ID:** 10918248
- **Project number:** 5U01HG013176-02
- **Recipient organization:** STANFORD UNIVERSITY
- **Principal Investigator:** JESSE M ENGREITZ
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $495,232
- **Award type:** 5
- **Project period:** 2023-09-01 → 2028-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10918248

## Citation

> US National Institutes of Health, RePORTER application 10918248, MorPhiC: Constructing a Catalog of Cellular Programs to Identify and Annotate Human Disease Genes (5U01HG013176-02). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10918248. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*