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Understanding clonal hematopoiesis in Fanconi anemia to improve patient surveillance strategies

2021 | Research Grant | Grant Rowe

A major problem in the care of patients with FA is managing the known risk of leukemia. As techniques for genetic analysis have exponentially improved in recent years, we now have the capability of finding very rare DNA mutations in the bone marrow suggestive of possible eventual development of leuk…

A small molecule approach to overcome replication dysfunction in FA

2020 | Research Grant | Sharon Cantor, Peter Kurre

The goal of this project is to identify drugs that improve DNA integrity and bone marrow stem cell function in FA. The Cantor lab has uncovered defects in so-called DNA replication that lead to small gaps and compromise cell turnover and fitness of FA cells. Striking similarities with the data gener…

Acetaldehyde exposure, oral microbiome, and DNA damage in the oral cavity of FA patients before and after the consumption of an acetaldehyde-rich meal or a low alcohol dose

2020 | Research Grant | Silvia Balbo

The objective of this proposal is to better understand the pathogenesis of head and neck squamous cell carcinomas (HNSCCs) for individuals with FA, in order to find practical and proactive preventive strategies to improve their quality of life. Specifically, this research aims to investigate the rol…

Chemoprevention of Cancer in Fanconi Anemia

2020 | Research Grant | Markus Grompe

Head and neck cancer is a major issue for the FA population. There is no suitable preclinical model to study potential strategies for preventing or delaying squamous cell carcinoma in FA. Using a cancer-prone mouse model developed by a lab in the United Kingdom, researchers will test small molecules…

Correction of Fanconi Anemia Mutations using Digital Genome Engineering

2020 | Research Grant | Branden Moriarity, John Wagner, Beau Webber

While the transplantation of healthy blood-forming stem cells from a healthy related or unrelated donor is the current standard of care for FA patients, this treatment carries a significant risk of morbidity and mortality caused by the toxic preconditioning regimen and immunological complications. O…

Extended Funding: Development of a safe, completely non-genotoxic anti-Kit antibody-based conditioning regimen for hematopoietic stem cell transplantation in Fanconi Anemia

2020 | Research Grant | Agnieszka Czechowicz

Bone marrow transplantation has been used for 60+ years to treat >1,000,000 patients suffering from many types of blood or immune diseases, and this therapy is the best current treatment for FA patients experiencing blood problems. This procedure relies on replacing sick blood-forming stem cells in …

Extended Funding: Fanconi Anemia Cancer Translational Resource

2020 | | Raymond Monnat, Jr.

Fanconi anemia (FA) patients are at exceptionally high risk of developing epithelial cancers. We aim to identify features of these cancers that provide new insight into their origins, and better ways to treat these cancers in the context of FA patients. As part of this Resource we will develop and c…

Pathogenesis, clinical and treatment outcomes, and molecular characteristics of anogenital squamous cell carcinomas in individuals with Fanconi Anemia

2020 | Research Grant | Kathryn Pennington, Agata Smogorzewska

Individuals with FA have an increased risk of developing anogenital squamous cell carcinoma (cancer of the vulva, cervix, vagina, or anus), but the best and safest way to treat these cancers in individuals with FA is unknown because only a small numbers of cases have been published in the medical li…

Reducing the burden of squamous cell carcinoma in Fanconi anemia (2020)

2020 | Service Grant | Christine Krieg, Eunike Velleuer

As individuals with FA reach adulthood, they have an increased risk of developing cancer, especially head and neck and anogenital squamous cell carcinoma. Cancer treatment options for individuals with FA are limited due to the DNA repair defects associated with the disease. Therefore, there is an ur…

Severe spermatogenic failure as a sentinel for early diagnosis of late-onset Fanconi Anemia

2020 | Research Grant | Csilla Krausz

Through the first systematic evaluation of all known FA genes in a selected group of infertile patients showing mild hematological alterations we expect to diagnose adult-onset FA. Our objective is to diagnose the disease before the appearance of severe complications and to allow preventive interven…

Synthetic Lethal Approaches to Treatment of FA Gene Mutant Head and Neck Cancer

2020 | Research Grant | Barbara Burtness, Gary Kupfer

Head and neck cancer in adult Fanconi anemia patients is often poorly managed with standard treatments. New drugs that work on controlling the cell cycle and cell division, rather than by damaging the cell’s DNA, may be safer in patients with FA. Researchers have preliminary evidence that combinatio…

A Porcine Model of Fanconi Anemia (2019)

2019 | Research Grant | William Fleming, Markus Grompe

A limitation in FA research is the absence of a live model that displays key features of the disease. Researchers at OHSU will create the first large animal model of FA to test potential therapies for people with FA.