Advancing a Natural History of FA-Associated Cancer

Investigators: Neelam Giri, MD, and Lisa McReynolds, MD, PhD
Institution: National Cancer Institute, NIH
Funding Amount: $249,950

Drs. Giri and McReynolds will continue their work developing an evidence-based cancer screening program for individuals with FA through supplemental funding to their existing NIH Center Comprehensive Program. Their project studies the natural history of oral potentially malignant lesions (OPMLs) and investigates biomarkers of carcinogenesis.

The NIH cancer screening program has already enrolled more than 80 participants and collected thousands of biospecimens. By collaborating with other FACC investigators, the team is analyzing DNA damage in these samples, offering valuable insight into how cancer develops in FA. Their work will help establish effective early detection strategies and create a robust biorepository for future cancer research.

Developing a DNA Ploidy Analysis Platform

Investigators: Martial Guillaud, PhD, and Denise Laronde, PhD
Institution: BC Cancer
Funding Amount: $95,787 — Funded by Fanconi Canada

This project builds on ongoing collaborations among BC Cancer, the NIH, and the University of Düsseldorf. Drs. Guillaud and Laronde are developing an automated DNA ploidy analysis platform for oral brush samples from individuals with FA.

This innovative, noninvasive method enables frequent monitoring of cellular changes over time, providing critical insight into how precancerous lesions progress. Earlier detection and intervention can lead to better outcomes and a deeper understanding of FA-related cancer development. FCF extends sincere gratitude to Fanconi Canada for their continued partnership and support of this research.

Reducing the Burden of Squamous Cell Carcinoma in FA

Investigators: Eunike Velleuer-Carlberg, MD, and Christine Krieg
Institution: University of Düsseldorf; German Fanconi Anemia Family Support Group and Research Fund
Funding Amount: $74,366

This project continues the long-running “Reducing the Burden of SCC in Fanconi Anemia” initiative, first funded by FCF in 2006. Dr. Velleuer-Carlberg and Ms. Krieg lead efforts to advance oral cancer screening through education, outreach, and research.

Their work has shown the effectiveness of brush biopsy screening and continues to promote awareness among individuals with FA, clinicians, and dentists. Ongoing DNA ploidy analysis of pre-malignant cells will improve early detection and expand understanding of cancer progression in FA.

Testing Chemoprevention Approaches for Oral Cancer

Investigators: Agata Smogorzewska, MD, PhD, and Rachel Uppgaard, DDS
Institution: Rockefeller University; University of Minnesota
Funding Amount: $250,000

With a 500–700 times greater risk of head and neck squamous cell carcinoma, individuals with FA face a pressing need for prevention strategies. Building on findings from FCF’s collaboration with Stand Up to Cancer, this multi-institute clinical trial evaluates naproxen and metformin as potential chemopreventive drugs for oral cancer. The study will assess both safety and biological markers of cancer prevention, establishing the framework for future chemoprevention trials in FA.

A Shared Commitment to Progress

The Fanconi Anemia Cancer Consortium brings together scientists, clinicians, and advocates from around the world who share a mission to reduce the burden of FA-associated cancers. FCF’s continued investment in this work—and the collaboration of dedicated partners like Fanconi Canada—helps drive meaningful progress toward earlier detection, improved care, and ultimately, prevention.

The post Fanconi Cancer Foundation Expands Cancer Consortium Research with New and Continued Grants appeared first on Fanconi Cancer Foundation.

Katherine was born into a world shaped by loss. Her older sister, Gracie, was diagnosed with Fanconi anemia (FA) shortly after the family moved to the United States from the Dominican Republic, seeking better medical care. Despite their best efforts, Gracie’s transplant was unsuccessful, and her parents were left heartbroken by her passing.

When Katherine was born, her parents were told she did not carry the FA gene—a momentary sigh of relief. But their world was once again shaken when a lab error was revealed, and Katherine, too, was diagnosed with FA. From the start, she was a fighter, with parents who believed in giving her every possible chance at life.

Katherine’s journey hasn’t been easy. At just eight years old, she underwent a bone marrow transplant, a procedure that brought both hope and fear. The transplant was successful, though not without complications. But thanks to her unwavering spirit and the donor community that helped make this treatment possible, Katherine survived.

And yet, as with so many people living with FA, the fear of cancer loomed large.

The Life-Saving Moment: Cancer Caught Just in Time

As Katherine grew older, she became determined to make the most of her life, excelling academically and dedicating herself to becoming a pediatric hematologist-oncologist to help children like her. But amidst her studies and advocacy work, something was wrong. Katherine started experiencing intense pain in her chest, a symptom that persisted despite numerous tests by her doctors, who told her everything was normal.

Frustrated but undeterred, Katherine continued to advocate for her own health. She enrolled in the FCF-funded cancer screening trial at the National Institutes of Health (NIH), a program supported by generous donors like you. There, in a moment that would change everything, her cancer was detected.

Thanks to early detection and quick intervention, Katherine’s cancer was caught and treated. She endured the grueling process of cancer treatment with the same resilience she’s shown throughout her life. But this time, she had something that made all the difference: hope.

The cancer screening trial that identified her cancer was made possible by donors who believe in the power of early detection and cutting-edge research, and by the dedicated researchers who work every day to save lives.

We Must Do More: Protecting People Like Katherine

While Katherine’s story is one of triumph, it also reveals the urgency of our mission. People with FA are 500-1000 times more likely to develop cancer than the general population. And without continued support for early detection programs like the one that saved Katherine, many will face cancer that is detected too late.

That’s why we’re pioneering the first-ever data platform for FA, developing cancer model systems for cutting-edge translational research, and advancing the groundwork for an FA cancer prevention trial. With your support, we can deepen our understanding of FA cancers and work towards a future where these cancers never develop in the first place.

We’re also investing in gene editing, a groundbreaking approach that targets and fixes the very gene mutations responsible for FA and the cancers that follow. This research has the potential to not only transform the lives of people like Katherine but also revolutionize how we approach cancer for millions of people.

Gifts Are Life-Saving

Katherine is alive today because of the FCF village, a dedicated community that includes people with FA, families, researchers, clinicians, advocates, caregivers, staff and volunteers. Her story of survival and resilience is just one example of the life-changing work that donor gifts make possible. But we cannot stop here. With continued generosity, we can not only save lives but also prevent the tragedy of cancer before it ever begins.

Click here to make a year-end gift.

The post It Takes a Village to Save a Life: Katherine’s Story appeared first on Fanconi Cancer Foundation.

Research is the answer to one day making FA a treatable, manageable disease.

Here, you’ll discover the most recent strides in FA research and activities funded by FCF. Every quarter, we’ll bring you updates on newly funded grants, ongoing projects, and significant milestones.

None of this progress would be possible without the unwavering support of our generous donors, fundraisers, and passionate researchers. Join us in fueling this vital research by making a gift today.

Last updated: December 31, 2025

Projects Awarded in 2025

Testing Chemoprevention Approaches for Oral Cancer
Investigators: Agata Smogorzewska, MD, PhD and Rachel Uppgaard, DDS
Institution: The Rockefeller University and University of Minnesota
Amount Funded: $250,000

With a 500–700 times greater risk of head and neck squamous cell carcinoma, individuals with FA face a pressing need for prevention strategies. Building on findings from FCF’s collaboration with Stand Up to Cancer, this multi-institute clinical trial evaluates naproxen and metformin as potential chemopreventive drugs for oral cancer. The study will assess both safety and biological markers of cancer prevention, establishing the framework for future chemoprevention trials in FA.

Development of Translational Read-Through-Inducing Drugs for Fanconi Anemia Caused by Nonsense Mutations
Investigators: Marco Cipolli, MD and Valentino Bezzerri, PhD
Institution: Azienda Ospedaliera Universitaria Integrata, Verona
Amount Funded: $129,210

This project focuses on finding new treatments for people with Fanconi anemia (FA) that can protect healthy stem cells, stabilize DNA, and delay the development of cancer. Drs. Cipolli and Bezzerri are testing new types of drugs designed to “read through” genetic stop signals, stabilize faulty genetic messages, and restore missing proteins. These drugs—called translational read-through–inducing drugs (TRIDs), nonsense-mediated decay (NMD) inhibitors, and anticodon-engineered tRNAs (ACE-tRNAs)—may help correct the effects of certain genetic mutations found in about 20–30 percent of people with FA.

The researchers aim to restore normal FA protein function by combining these drugs in cells derived from individuals with FA. If successful, this approach could lead to new treatment options for many people with FA and could eventually be applied to other bone marrow failure disorders.

Cancer Prevention in Fanconi Anemia through Alleviating Formaldehyde Genotoxicity
Investigator: Meng Wang, MD, PhD
Institution: Weill Cornell University
Amount Funded: $488,000

This Fanconi Cancer-AACR NextGen Grant for Transformative Cancer Research was awarded in 2024 in collaboration with the American Association of Cancer Research and focuses on cancer prevention in FA individuals by investigating specific nutritional and metabolic pathways. Utilizing both animal models and FA patient samples, Dr. Wang is studying the pathways that regulate the production of aldehydes, organic compounds naturally produced in the body during metabolic processes. This work aims to target metabolic and nutritional pathways for novel cancer prevention in FA patients. 

Fanconi Anemia Cancer Consortium (FACC)
Investigators: Martial Guillaud, PhD; Denise Laronde, PhD; Neelam Giri, MD; Lisa McReynolds, MD, PhD; Eunike Velleuer-Carlberg, MD; Christine Krieg; Agata Smogorzewska, MD, PhD; Alfredo Rodriguez, PhD; 
Institutions: B.C. Cancer; NIH; Children’s Hospital, Department for Pediatric Haemato-Oncology, Krefeld, Germany; University of Düsseldorf, German Fanconi Anemia Family Group and Research Fund; The Rockefeller University; National Autonomous University of Mexico
Supplemental funding awarded in 2025

The FACC is an FCF-funded collaborative partnership between interdisciplinary cancer research teams, the FA community, and a network of clinicians and physician scientists who have expertise in FA cancer research and the diagnosis and treatment of FA cancers. Several FACC researchers were recently awarded supplemental funding from FCF to continue their research efforts on a variety of topics ranging from early cancer detection/screening to patient education and advocacy. Researchers from the FACC will be attending FCF’s upcoming Scientific Symposium and FA adult retreat to share their research and offer brush biopsies to FA individuals in attendance. 

Small Molecule Screening in Fanconi Anemia Mice
Investigators: Markus Grompe, MD and Craig Dorrell, PhD
Institution: Oregon Health and Science University
Amount Funded: $215,991

This newly funded research project aims to better understand prevention and treatment of squamous cell carcinoma (SCC) oral cancer in FA. By utilizing FA mouse models, these researchers can determine which medications are the safest and most effective at treating oral cancer in people with FA. This research project will screen cancer chemotherapy drugs for FA-specific toxicity as well as screening small molecules for cancer chemoprevention drugs in mouse models of FA. Together, this work will inform future clinical trials for oral cancer treatment and SCC chemoprevention in FA. 

Oral Cavity Gene Therapy
Investigator: Markus Grompe
Institution: Oregon Health and Science University
Amount Funded: $91,173

FA patients are at a high risk for SCC and this recently funded research project explores oral cavity gene therapy in mouse models of FA. The ability to utilize oral cavity gene therapy would revolutionize oral cancer prevention strategies in FA. However, it is necessary to determine the feasibility of this approach first in animal models before developing this method for human FA patients, which is what this work aims to do. 

Modeling environmental responses of Fanconi anemia epithelial stem and progenitor cells to prevent squamous cell carcinoma
Investigators: Joel Walker Ideas Lab Team: Kenneth Weinberg, MD and Hiroshi Nakagawa, MD, PhD
Institutions: Stanford University; Columbia University
Supplemental funding awarded in 2025

This research project, first funded in 2022, created new models to prevent SCC, studying how this cancer develops in the mouth and esophagus while simultaneously testing potential drugs to stop cancer growth. FCF’s original funding allowed Dr. Weinberg and Dr. Nakagawa to make incredible strides in data collection and tool development for this project. Now with newly awarded supplemental funding, this work continues to identify potential cancer stem cells for FA associated SCCs, testing new SCC-inhibiting drugs, and applying findings from mouse models to human samples. Together, this work will help other researchers detect similar cancer types in their studies and test new ways to treat/prevent SCCs before they become advanced. 

Fanconi Anemia Research Materials Program (FARM) 
Investigators: Markus Grompe, MD and Leslie Wakefield
Institution: Oregon Health and Science University
Supplemental funding awarded in 2025

This research program, first funded in 2023, focuses on advancing FA research through the distribution of established Fanconi anemia related cell lines and antibodies. This work continues through supplemental funding from FCF which supports facilitation of distribution of research materials throughout the FA research community. 

Projects that Wrapped Up in 2025

Projects to be added once they are completed.

Updates From Ongoing Projects

Spatial Analysis of FA Tumors for Detection of Their Immune Repertoire and Potential Actionable Targets
Investigator: Alfredo Rodríguez, PhD
Institution: National Autonomous University of Mexico
Funded in 2024

This recently funded research project aims to better understand the cellular make up of SCC in patients with FA. SCC tumors are comprised of many different cell types; of particular interest to this study are immune cells. By utilizing advanced imaging techniques, Rodriguez’s team hopes to uncover cellular interactions in these tumors and use that understanding to discover new cancer treatments for FA patients. In both human and mouse models, this group has found unique groupings of immune cells that help these tumors evade immune system detection. This continuing work offers incredible insights into how the immune system interacts with cancer cells and could lead to new targets for immunotherapy in FA patients with SCC. 

Transforming treatment of inherited bone marrow failure in Fanconi anemia by precise in vivo genome editing
Investigators: Paula Rio, PhD; David Liu, PhD; Jacob Corn, PhD; Andrew Deans, PhD; Hans-Peter Kiem, PhD; Branden Moriarity, PhD; Toni Cathomen, PhD
Institutions: Instituto de Investigación Sanitaria Fundación Jiménez Díaz; Harvard University; ETH Zurich; St. Vincent’s Institute Fitzroy; Fred Hutch Cancer Center; University of Minnesota; University of Freiburg, Institute for Transfusion Medicine and Gene Therapy
Funded in 2023-24

This multi-investigator research project focuses on gene editing strategies for FA. Hematopoietic stem cells (HSCs) in individuals with FA are greatly affected by bone marrow failure, resulting in fewer HSC reserves. To overcome this, this project is developing in-vivo gene editing strategies which reduce associated HSC risks and allow for increased treatment accessibility. Recently this group has optimized gene editing tools to correct specific mutations found in FA patients. Additionally, this team has created the necessary models to test these gene editing tools using various delivery methods. 

NIH Center Comprehensive Program for Natural History of Development of Squamous Cell Carcinoma in Fanconi Anemia
Investigators: Neelam Giri, MD and Sharon Savage, MD
Institution: Clinical Genetics Branch, National Cancer Institute NIH
Funded in 2022

This research project established a central facility and team of expert clinicians and scientists at the NIH to conduct comprehensive longitudinal cancer screening of individuals with FA who are at high risk of SCC. This study utilizes detailed clinical evaluations, biospecimen collection, and a recently developed tissue repository to facilitate collaborative studies within the FA research community. More than 80 participants are enrolled and 30+ FA patients have been evaluated at the NIH, resulting in numerous brush biopsy samples from oral lesions. This research project has also fostered numerous collaborations with other FA researchers across the world including psychosocial researchers who are exploring screening-related anxiety in FA patients. 

Cytology Based DNA Analysis to Investigate the Malignant Potential of Oral Lesions in Patients with Fanconi Anemia
Investigators: Martial Guillaud, PhD and Denise Laronde, PhD
Institution: BC Cancer Research Institute
Funded in 2022

The goal of this research project is to detect oral premalignant disease in FA patients using samples collected through non-invasive brush biopsy. Dr. Guillaud and Dr. Laronde have made great progress on this work using automated detection of individual high-risk oral lesions in FA patients. This project is partnered with the FA NIH longitudinal study (update above) and automated DNA detection findings have been integrated into the main NIH database. Additionally, these researchers are working on DNA software that will be of use to other investigators in the FA community. 

Fanconi Anemia Data Commons (FRIENDS)
Investigator: Sam Volchenboum, MD, PhD
Institution: University of Chicago 
Funded in 2023

The FA Data Commons project establishes a platform for the FA research community to search, analyze, and share data for discovery of new pathways to treatment and cure of FA. The data commons currently has 13 institutions from all over the world contributing data. This research group has been working together to create a data dictionary consisting of many high priority issues for the FA community such as bone marrow failure, Fanconi Associated Neurological Syndrome (FANS), cancer, fertility, and psychosocial impacts. For more information about this project check out the FRIENDS page.

Updates on Other Research Initiatives

Updates to be added once they are available.

The post 2025 Research Updates appeared first on Fanconi Cancer Foundation.

When it comes to managing life with Fanconi anemia (FA), knowledge is power. That’s why FA researchers, adults with FA, and the FARF team have been working to increase education and empowerment for all people with FA. 

We’re proud to introduce FAexam, a brand-new app designed to assist individuals with FA in performing and documenting oral self-examinations.

The power of at-home screening

Driven by Christine Krieg, Executive Director of the German FA Support Group, and Eunike Velleuer, FA clinician and researcher, this app is a product of their long-running study “Reducing the Burden of Squamous Cell Carcinoma.” Through this 15+ year study, the team has seen hundreds of people with FA, inspecting their mouths for any spots or changes. During these visits, Christine and Eunike began educating people with FA how to conduct their own exams at home, which can be very helpful in monitoring oral health between visits to the dentist or ENT. 

It’s important to note that these self-screenings are complementary to regular, six-month visits to dentists or ENTs. They are not meant to replace regular doctor visits, but serve as an additional tool for care.

In addition to research, education and empowerment are key to intercepting cancer

Because people with FA are at a higher risk of cancer than those in the general population, it is essential to be proactive. That means not only practicing good oral hygiene, but also actively participating in screenings. The goal is to prevent any potential diagnoses from occurring too late, ensuring timely interventions and treatments.

Of course, when facing a something as terrifying as cancer, it’s natural to resist engaging with anything cancer related. That’s where the empowerment piece comes in. 

Enter: FAexam. This app provides the necessary guidance and resources to perform thorough oral self-examinations and it’s designed to empower users to learn about their care, participate in prevention, and even track their emotional well-being.

Who is the app for?

For those with a heightened sensitivity of the oral mucosa and who may experience oral lesions at an earlier stage, the app serves as a valuable tracking tool. It was designed for people with FA, but could even be used by others with higher risk of oral cancer, as well as physicians. 

Our recommendation is to initiate oral self-screening around age 16. Parents can also use the app to monitor their children’s oral health.

See what’s inside the app

• Step-by-Step Guide: Follow a detailed, user-friendly guide (and videos) on how to perform thorough oral self-examinations. FAexam allows you to draw directly onto a mouth map, ensuring clarity and precision during your self-examinations. Additionally, color-coded elements provide visual cues, making it easier to identify and understand different areas of concern.
• Automatic Reminders: Receive timely reminders to check in and perform your oral self-exam, ensuring consistency and a proactive approach to your oral care.
• Documentation Management: Easily track areas of concern and compare changes over time. Export your oral exam records and documentation to share with your care team. 
• Info Library: Access a comprehensive library of resources about Fanconi anemia, oral self-exams, and oral care tips.
• Mood Tracker: Track your moods and emotions related to your oral health journey, helping you monitor the impact of your self-care routine.

 How to get access:

You can download the app in the App Store for iPhone or the Google Play Store for Androids.

You can visit the informational library and watch the video all about oral-screenings at www.fanconi.de/faexam.

Note: this app is a collaborative project between individuals with FA from all over the world, the Fanconi Anemia Research Fund and the German Fanconi Anemia Support Group.

The post Introducing FAexam, the essential screening app for people with FA appeared first on Fanconi Cancer Foundation.