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Building a Fanconi Anemia Data Commons

2023 | Research Grant | Sam Volchenboum

Studying a rare disease such as Fanconi anemia is challenging: data must be captured from as many treatment locations as possible. No single institution can have a breakthrough; it requires sharing as much data as possible from as many individuals as possible. Since 2015, Data for the Common Good…

Clinical trial to investigate the safety and efficacy of Afatinib when administered as therapy in FA patients

2023 | Clinical Trial | Ramon Garcia Escudero, Jordi Surralles

Individuals with FA have a higher risk of developing head and neck squamous cell carcinoma (HSNCC) at young ages. Long-term survival rates remain low because often these patients cannot tolerate conventional chemotherapy and radiation treatments due to issues related to toxicity. This study is the…

Development of In Utero Therapies for Fanconi Anemia

2023 | Research Grant | Agnieszka Czechowicz

Correcting FA mutations in all cells of the body may prevent issues such as bone marrow failure and cancer in people with FA. Since mutations in FA genes start during the gestational process, the ideal time to correct genes may be in utero. The goal of this study is to use laboratory-based…

FA Cancer Awareness Team Health Literacy Initiative

2023 | | Christine Krieg, Eunike Velleuer

The FA population carries a high risk for squamous cell carcinoma (SCC) of the oropharyngeal and anogenital regions connected with high morbidity and mortality. In addition to intrinsic genetic instability, hematopoietic stem cell transplantation (HSCT) and a number of other factors contribute to…

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…

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…

Modeling the Role of Environmental Responses in Fanconi Anemia Epithelial Stem and Progenitor Cells in FA Squamous Cell Carcinoma

2022 | | Craig Elmets, Daria Mochly-Rosen, Hiro Nakagawa, Frank G. Ondrey, Kenneth Weinberg

Identifying safe and effective therapies for FA cancers requires preclinical models that faithfully recapitulate the natural progression of disease. This grant will develop models to better understand squamous cell carcinoma in individuals with Fanconi anemia using animal models and organoids…

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…

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…