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Building Collaborative Partnerships to Understand Fanconi Anemia Tumor Pathogenesis, Prevention, and Treatment

2022 | Research Grant | Agata Smogorzewska

This team will facilitate collaborations between all current and future participants of the Fanconi Anemia Cancer Consortium (FACC). The goal is to gather information and samples from past, present, and future patients to fully understand how tumors develop in FA patients and facilitate new preventi…

Cytology-Based DNA Analysis to Investigate the Malignant Potential of Oral Lesions in Patients with Fanconi Anemia

2022 | Research Grant | Martial Guillaud, Denise LaRonde

Researchers will run samples collected by brushing lesions through an automated system to detect abnormal DNA content and malignant changes. By identifying high-risk lesions, closer follow-up and early intervention can be used to prevent malignancies. The goal is to establish a centralized lab at BC…

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.…

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

2022 | | Barbara Burtness, Gary Kupfer

Typical treatments for cancer involve conditioning that damages DNA and can therefore be harmful for people with Fanconi anemia, who cannot repair DNA. Researchers are testing drugs using patient-derived xenografts (tumors from patients that are grown in mice) to find a way to kill FA cells without …

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…

NIH Center Comprehensive Program for Natural History of Development of Squamous Cell Carcinoma in Fanconi Anemia

2022 | Research Grant | Neelam Giri, Sharon Savage

People with Fanconi anemia have an extremely high risk of developing squamous cell cancers of the oral cavity, vulva, anal area, and esophagus. The risk of these cancers starts around teen years and increases throughout life with the highest risk for oral cavity cancers in ages 20s to 30s. Oral cavi…

Oral Mucosal Gene Therapy as a Prevention for FA-Associated Cancer

2022 | | Markus Grompe, Raymond Monnat, Jr., Kim Woodrow

Individuals with FA are at an exceptionally high risk of developing squamous cell carcinomas (SCC) in non-keratinizing squamous epithelia lining the oral cavity, proximal esophagus, and anogenital region. The origins of these FA-associated cancers are not well understood. The goal of this project is…

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…