# Functional Genomics Across an Ethnically and Racially Diverse Endometriosis Population

> **NIH NIH R01** · CEDARS-SINAI MEDICAL CENTER · 2024 · $1

## Abstract

ABSTRACT
Around 10% of reproductive-age women have endometriosis, although prevalence is thought to differ by
ancestry, with rates the highest in Asians where around 15% of women are affected. The molecular drivers of
this common chronic gynecologic condition are poorly understood, particularly in non-Whites. Endometriosis is
a major cause of pain and infertility in women, is associated with significant financial burden, and multiple
comorbidities including pain syndromes, inflammatory and immune conditions, anxiety, and depression.
Endometriosis lesions frequently harbor somatic mutations in “driver” genes such as KRAS, PIK3CA and
ARID1A, but the consequences of these mutations are poorly understood. The goal of this proposal is to
leverage a deeply annotated collection of specimens from >1,400 endometriosis patients to catalogue the
spectrum of of somatic mutations in endometriosis across White, Asian, Black and Hispanic Women and to use
state-of-the-art single cell and spatial genomics technologies to identify therapeutic opportunities associated
with specific mutations. Aim 1 will use exome and targeted sequencing to map population-specific frequencies
of somatic drivers. Aim 2 will profile endometriosis and eutopic endometrium tissues using single cell
transcriptomic and epigenomic analyses and spatial transcriptomics to map the cellular and molecular impacts
of somatic mutations to identify therapeutic targets. Aim 3 will use an orthotopic syngeneic mouse model of
endometriosis to validate the mechanisms by which mutations impact endometriosis formation and persistence
and to test therapeutics tailored to the genetic alterations in the lesions. Genes and pathways we discover to
be associated with somatic mutation of ARID1A, KRAS and other genes in endometriosis represent novel
opportunities for diagnosis and personalized treatment based on the specific landscape of a woman’s disease.

## Key facts

- **NIH application ID:** 10779976
- **Project number:** 1R01HD113693-01
- **Recipient organization:** CEDARS-SINAI MEDICAL CENTER
- **Principal Investigator:** Michael Stephen Anglesio
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $1
- **Award type:** 1
- **Project period:** 2024-01-01 → 2024-03-29

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10779976

## Citation

> US National Institutes of Health, RePORTER application 10779976, Functional Genomics Across an Ethnically and Racially Diverse Endometriosis Population (1R01HD113693-01). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10779976. Licensed CC0.

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