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Development and Characterization of FA-HNSCC PDX Models

2022 | Research Grant | Jenny Grandis, Daniel Johnson

Laboratory models of FA head and neck cancer are lacking and represent a major barrier to identifying more effective treatments. We helped pioneer the creation of patient-derived xenografts (PDX) from head and neck cancers and have developed the first PDX from a head and neck cancer in a FA patient.…

Fanconi Anemia associated Neurological Syndrome – A search for a cause with advanced technologies

2022 | | Prashanth S Ramachandran, Michael Wilson

A new and rare condition affecting patients with Fanconi anemia has emerged over the last few years. This condition leads to brain lesions which can lead to weakness, seizures and cognitive issues. We do not know the cause of this condition. Current thinking suggests that it may be due to over-activ…

Psychosocial Experiences of Adults with Fanconi Anemia: A Participatory Mixed-Methods Research Study

2022 | | Kathleen Bogart, Megan Voss

This project aims to partner with members of the Fanconi anemia community to design a first-of-its-kind quality of life study, considering the physical, mental, emotional, and spiritual aspects of living with FA, as well as issues of diversity, equity, and inclusivity. Results of this study will hel…

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…