# Pathophysiology and Treatment of Fanconi Anemia

> **NIH NIH P01** · OREGON HEALTH & SCIENCE UNIVERSITY · 2020 · $1,973,219

## Abstract

Project Summary
Fanconi's Anemia (FA) is a genetic bone marrow failure syndrome that presents in
childhood. Congenital malformations and increased cancer risk, particularly acute
myelogenous leukemia, are additional manifestations of the disorder. Eighteen distinct
genes responsible for the FA phenotype have been identified and together constitute the
FA/BRCA network which functions to maintain genome stability and ensure stem cell
survival.
FA is associated with significant morbidity and early mortality and therapeutic options
remain suboptimal. In the past funding period this Program Project succeeded in
discovering new drug targets and small molecules for FA therapy. All of these
candidates have clinical potential and we are on the threshold of new interventions for
this severe disease. The key goal of the project in the next funding period is to prioritize
a single drug regimen from our small list of candidates and to generate the preclinical
data needed for starting a clinical trial.
This Program Project will use a multidisciplinary approach to achieve this goal. The
clinical disciplines represented include pediatrics, hematology, oncology and medical
genetics. The scientific areas of expertise include molecular hematology,
xenotransplantation, DNA repair, cell biology and mouse genetics.
Project 1 will explore compounds that have already shown promise in FA mouse models
such as metformin, p38 MAPK inhibitors, antioxidants and androgens, both singly and in
combination. Project 2 will focus on inhibitors of the TGF-β pathway for the treatment of
FA. Project 3 will use primary human cells from FA patients to study the compounds
from projects 1 and 2. In addition, the regulatory groundwork for a clinical trial will be
done.
Core B will evaluate compounds in xenotransplant models of human hematopoiesis.
Core C will perform a variety of DNA damage assays in support of all projects. Core D is
a biorepository and Core A will provide administrative support.

## Key facts

- **NIH application ID:** 9983780
- **Project number:** 5P01HL048546-25
- **Recipient organization:** OREGON HEALTH & SCIENCE UNIVERSITY
- **Principal Investigator:** Markus Grompe
- **Activity code:** P01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $1,973,219
- **Award type:** 5
- **Project period:** 1997-07-01 → 2022-02-28

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9983780

## Citation

> US National Institutes of Health, RePORTER application 9983780, Pathophysiology and Treatment of Fanconi Anemia (5P01HL048546-25). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/9983780. Licensed CC0.

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