How can we prevent cancer in people with Fanconi anemia? Which changes can help us find it earlier? And how can treatment become safer when someone is diagnosed with cancer?

At the 2026 FA Scientific Symposium in Phoenix, researchers shared progress toward answering these questions, alongside work to protect blood-forming cells and better understand the broader effects of FA. Some approaches are entering clinical studies. Others are helping researchers decide which ideas deserve further testing.

The gathering also brought community experiences into focus. On Oct. 3, FCF held an Externally Led Patient-Focused Drug Development (EL-PFDD) meeting, providing a forum for people with FA, caregivers and bereaved families to share their perspectives. Together, these events underscored the importance of pursuing research that responds to the realities of living with FA.

Community experiences belong in the research conversation

Research can measure changes in cells, tumors and blood counts. Understanding the impact of FA also requires hearing directly from the people affected by it.

The EL-PFDD meeting created a dedicated opportunity to share those experiences and perspectives to help inform future research and treatment development. We’re grateful to everyone who contributed, in person or virtually, and to those who shared deeply personal experiences.

FCF will share reports and meeting recordings in the coming months, providing more opportunities to learn from the discussion.

Cancer prevention is moving into clinical testing

One important step is a study of naproxen and metformin, drugs already approved for use in  other conditions. Researchers at The Rockefeller University and the University of Minnesota are leading a clinical trial to assess safety, tolerability and changes in oral tissue, including biological changes that may precede cancer in people with FA. The study is the first step in understanding whether the drugs can eventually be used to prevent cancer.

Other cancer prevention research for FA starts with a different question: Can we reduce some of the DNA damage that occurs inside the body? Researchers at Cornell University and Boston Children’s Hospital are studying aldehydes, naturally occurring byproducts of metabolism that damage DNA. The research teams are conducting laboratory-based experiments to investigate ways to strengthen cells’ defenses or intercept DNA damaging byproducts before they cause harm. 

Screening is helping researchers ask better questions

The NIH comprehensive cancer screening program has enrolled more than 100 people with FA. Alongside screening for cancers including head and neck, esophageal, skin, and breast, the program collects biological samples over time that can help researchers investigate potential early warning signs of cancer.

Following people and collecting their samples over time is essential. A biological difference becomes more useful when researchers can determine whether it is associated with changes that actually lead to cancer or other serious health problems.

Oral brush sampling of the oral cavity is a crucial early detection technique that is being used in the NIH study. Researchers study whether abnormal amounts of DNA in cells collected with a brush, along with other biological markers, can help identify oral changes that need closer evaluation. The goal is to improve assessment with less burden, while establishing how reliably these tools identify risk.

Lab grown tissue is helping identify treatment candidates

For people with FA, finding a drug that kills cancer cells is only part of the challenge. Researchers also need to understand what that drug does to healthy FA cells.

A research team from Columbia University and Stanford University reported developing lab-grown tissue models, called organoids, that are derived from healthy tissue, precancerous tissue and head and neck cancers from people with FA. The team performed a drug screen using 450 compounds and identified 20 that preferentially killed the cancer cells in the organoid models. 

Although these are laboratory results, and more testing is needed before drug candidates can move toward clinical studies, comparing healthy and cancerous FA tissue gives researchers a practical way to investigate the selectivity that safer treatment requires.

Other work is examining how FA tumors interact with the immune system. Dr. Alfredo Rodríguez, recipient of the 2026 David B. Frohnmayer Early-Stage Investigator Award (pictured below), presented findings on differences in the immune cells within and around FA tumors. Understanding those differences could help guide future approaches to immunotherapy for FA cancer.

New approaches aim to protect blood forming cells

Progress in FA research also includes preclinical efforts to prevent or treat bone marrow failure. Researchers are developing methods to insert a functioning gene into blood-forming cells, with the longer-term goal of enabling correction directly in the body. 

Stanford University and the University of California, San Francisco reported on a new clinical project that will study transplantation before birth using blood-forming stem cells from the mother. The researcher team will establish maternal and fetal safety and whether the approach provides lasting benefit.

These strategies address blood and marrow disease. Correcting blood-forming cells does not automatically correct other tissues affected by FA or eliminate the risk of solid tumors. Continued work on cancer prevention and treatment remains essential.

Shared information can help the whole field move forward

With a condition as rare as FA, no single institution can answer every question alone. FRIENDS, a consortium spanning 19 institutions, is developing shared ways to organize clinical information so researchers can study questions across centers.

In 2020, FCF created the FA Virtual Tumor Board (VTB) program to provide expert advice on cancer treatment for individuals with FA. Researchers from the Rockefeller University, working in collaboration with FCF, reported on a funded outcomes study that is examining VTB specialist recommendations, treatments people received, side effects and results. Connecting those pieces can help clinicians assess how the service is working and where evidence is still missing. Learning from the outcomes of the FA VTB will enable future implementation of best practices for treating FA cancer.

Across these efforts, progress depends on people who contribute samples, participate in studies, share their experiences and support the work. Newly approved research grants will help several of these projects take their next steps. Read our companion article for an overview of the nine October awards and the questions they will help researchers answer.

Want to explore the science further? 

Read on for more detailed findings and methods from selected symposium presentations.

Additional findings presented at the Symposium explored the mechanisms underlying FA, potential therapeutic targets and new tools for studying disease progression. These selected highlights include investigator-reported results, with further validation needed before clinical application.

DNA repair mechanisms and potential therapeutic vulnerabilities

Alberto Ciccia’s team at Columbia University used Cas12a genetic screens to examine more than 27,000 pairs of DNA damage response genes. The work identified synthetic lethal interactions involving FA genes and GEN1, CIP2A, RHNO1, and the FANCM–SMARCAL1 pair. These interactions occur when two defects together kill a cell, even though either defect alone can be tolerated.

The findings suggest potential targets for treatment discovery. In inherited FA, however, healthy tissues also have DNA repair defects. Establishing whether these dependencies can be targeted selectively in cancer cells will be essential.

Agata Smogorzewska’s team at The Rockefeller University presented mechanistic work showing how FANCI–FANCD2 recruits the XPF and SNM1A nucleases to damaged DNA and how repair enzymes can compensate for one another. These findings clarify the coordination required for DNA crosslink repair and how its disruption can contribute to chromosome instability.

Distinctive immune features in FA tumors

Alfredo Rodríguez’s analysis used imaging and computational methods to map immune cells in 33 squamous cell carcinoma samples from people with and without FA. FA tumors showed distinctive patterns of TIM-3-positive exhausted T cells in the surrounding stroma, alongside suppressive macrophages and regulatory T cells. These patterns differed from the PD-1-associated pattern observed in non-FA samples.

The findings raise questions about whether FA-associated cancers may require immunotherapy approaches tailored to their immune environment. They identify potential research targets but do not yet demonstrate clinical benefit from targeting TIM-3 or related signals.

Two approaches to reducing aldehyde damage

Grant Rowe’s work at Boston Children’s Hospital began with an observation of an adaptive ALDH9A1 variant in blood-forming cells from a person with FA who had not developed marrow failure. Modeling the variant increased aldehyde-detoxification activity, reduced endogenous DNA damage and improved blood-cell production. The next steps include screening for enzyme activators and testing their relevance in FA epithelial cells.

Meng Wang’s team at Cornell University is investigating a complementary approach: intercepting formaldehyde before it damages DNA. Preliminary mouse studies suggest that D-penicillamine can trap circulating formaldehyde and reduce formaldehyde–DNA adducts in bone marrow. Screening more than 2,000 compounds identified additional candidates. Further work will test sustained protection against marrow failure and leukemia in FA models and verify how the candidates act.

Gene insertion in blood-forming cells

Branden Moriarity and John Wagner’s University of Minnesota project is developing gene insertion through homology-mediated end joining, or HMEJ. The approach is being evaluated in FA blood-forming cells and mouse models, with the longer-term goal of enabling gene correction directly in the body.

This work remains preclinical and is distinct from the prenatal transplantation study. Both approaches address hematologic disease; neither has established prevention of FA-associated solid tumors.

Emerging investigators and award-winning research

Three poster award recipients presented additional approaches to understanding FA biology and improving risk assessment:

• Basic research award: Abigail Molnar. In FA-derived cell lines, nicotinamide riboside supplementation restored activity of NAD-dependent enzymes and improved markers of DNA damage, replication stress and mitochondrial health. These cell findings support further investigation but do not establish the safety or effectiveness of supplementation in people with FA.
• Clinical research award: Lobna Kammoun. A machine learning model developed using retrospective records from 233 people with FA achieved an internally cross-validated AUC of 0.78 for predicting severe hematologic progression. External and prospective validation are needed before clinical use.
• Translational research award: Jiayue “Wendy” Wu. Mouse-derived oral and esophageal organoids developed progressive precancer-like abnormalities in FA-deficient tissue without added carcinogens. Restoring FA genes corrected sensitivity to DNA crosslinking agents but did not reverse established abnormalities in tissue differentiation, raising questions about the timing of preventive interventions.

The post New Findings, Next Steps: Research Highlights From the 2026 FA Scientific Symposium appeared first on Fanconi Cancer Foundation.

Some people lead organizations. A rare few create the conditions for an entire field and community to grow.

More than four decades ago, Lynn Frohnmayer was a mother searching for answers after learning that three of her five children had Fanconi anemia. There was no roadmap and no established network of families or experts. Information was scarce, treatments were limited, and the future her family had been given was devastating.

So Lynn began learning.

She read every scientific paper she could find and called the researchers who had written them. She reached out to other families by mail. She listened, asked questions and shared what she learned.

On Oct. 2, the Fanconi Cancer Foundation honored that lifetime of work with its Lifetime Achievement Award at the FA Scientific Symposium in Phoenix. The audience rose in a standing ovation, recognizing a woman whose persistence and care helped build the community gathered in the room.

From the first letters to a worldwide community

In 1985, Lynn’s outreach became a family support group and the FA Family Newsletter. Families who had been searching on their own could now share information and find someone who understood.

In 1989, Lynn and her husband, David, invited researchers to Portland and asked them to “bring their brains.” Together, they established principles that still guide our work: bring people together, share knowledge, support promising science, encourage collaboration and keep the needs of families at the center.

That same year, a few checks made out to an organization that didn’t technically exist yet led Lynn and David to establish the Fanconi Anemia Research Fund in Eugene, Oregon.

It was, as Lynn has called it, an accidental organization. But what followed was anything but accidental.

For decades, Lynn wrote and edited newsletters, helped develop clinical care guidelines, evaluated research proposals, organized scientific and family meetings, served on the board, raised research funding and supported families through some of the most difficult moments of their lives.

“Lynn brought families’ questions directly to researchers and helped secure the funding to pursue answers,” said FCF CEO Isis Sroka. “She also understood that families needed more than scientific progress. They needed reliable information, someone who would listen, and a community they could count on. Her work helped build all three, and those needs still guide every decision we make.”

More years of life and more work ahead

Lynn kept returning to a question that has moved this organization forward: What must we do next to help people with FA live longer, fuller lives?

That question helped focus research on gene discovery, safer bone marrow transplantation, gene therapy and, increasingly, the prevention, detection and treatment of cancer.

With substantial support from the Eugene community and donors beyond it, Lynn and David helped raise tens of millions of dollars for research. Today, the Fanconi Cancer Foundation has invested more than $35 million in studies worldwide.

Many children with FA once were not expected to reach adulthood. Today, adults are living into their 30s, 40s and beyond. Bone marrow transplant survival exceeds 90% for people treated at experienced FA centers. Scientists have identified 23 genes associated with FA, including BRCA1 and BRCA2, two genes linked to inherited breast cancer risk.

These advances mean more time together and more possibilities for the future. They also make safer cancer care increasingly urgent. People with FA face a high cancer risk, and standard chemotherapy and radiation can cause severe harm because of their DNA-repair disorder. FCF supports research to prevent cancer, detect it earlier and develop safer treatments, alongside gene therapy, gene editing and other approaches to FA and its complications.

A commitment that continues

Lynn and David’s three daughters with FA, Kirsten, Katie and Amy, all died from complications of the condition. David, who served as University of Oregon president from 1994 to 2009, died in 2015. Lynn has continued her work for the FA community, supporting families and helping advance the research they need.

The progress we celebrate belongs to many people: families who shared their experiences, scientists and clinicians who pursued answers, and donors and fundraisers who made the work possible.

But every community needs someone willing to write the first letter, make the first call and invite the first people into the room. Lynn was that person, again and again.

This award honors what Lynn has accomplished and how she has done it: with intellectual curiosity, honesty, persistence and compassion. We’re grateful for the community she helped build and for the care she continues to bring to it.

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The Fanconi Cancer Foundation (FCF) and the American Cancer Society (ACS) have opened the 2026 application cycle for the ACS-Fanconi Cancer Foundation Discovery Boost Grant.

Through this partnership, FCF and ACS are inviting proposals for translational cancer research that addresses the unique challenges faced by people with Fanconi anemia (FA). The grant is designed to advance promising ideas with the potential to improve how cancers in people with FA are detected, prevented or treated.

Scientific scope

Proposed research must be directly applicable to FA-associated cancers, particularly cancers influenced by defects in the FA/BRCA DNA repair pathway. Applications should clearly explain how the work could advance FA cancer research and ultimately benefit people with FA.

Applications are welcome from established FA investigators as well as researchers in related areas of cancer biology who want to apply their expertise to FA. Researchers who are new to the field should demonstrate a clear connection between their proposed work and the grant’s priorities.

Areas of interest include, but aren’t limited to:

• Early detection technologies and biomarkers for FA-related squamous cell carcinomas
• Mechanisms or interventions to prevent FA-related tumors
• Therapeutic strategies tailored to the sensitivity of people with FA to DNA-damaging agents
• New models for studying FA tumor development and treatment response
• High-throughput or systems biology approaches to identify cancer vulnerabilities specific to FA

Preference will be given to projects with a clear path toward clinical application, including collaborations with clinicians, diagnostic developers or pharmaceutical partners.

Both new applications and resubmissions from the previous application cycle will be accepted.

Eligibility

Applicants typically must:

• Work at a U.S. academic institution or eligible nonprofit organization
• Be an independent investigator at any career stage
• Hold a full-time faculty appointment or equivalent position

Applicants should review the complete grant policies and instructions before applying. Applications that don’t align with the scientific scope of the funding opportunity will be returned without review.

Term and budget

Awards provide up to $135,000 in direct costs per year for up to two years, plus 10% in indirect costs. The maximum allowable budget is $297,000 for a two-year project.

Key dates

• Application deadline: Dec. 1, 2026
• Application review: March 2027
• Anticipated award notification: August 2027
• Anticipated grant start date: Oct. 1, 2027

Why this matters

People with FA face an extraordinarily high risk of cancer and can be especially vulnerable to the effects of standard cancer treatments. Progress requires research designed around their specific biology and medical needs.

This partnership combines FCF’s deep knowledge of FA research and community priorities with ACS’s scientific reach and grant-review infrastructure. It also creates an opportunity to bring new investigators and approaches into the FA field while advancing research with a clear path toward better cancer care.

Learn more and apply

Applications are now open. Researchers can review the complete funding opportunity, eligibility requirements, policies and application instructions on the American Cancer Society website.

Questions about the grant may be directed to Doug Hurst, PhD, at doug.hurst@cancer.org.

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Research progress is often described through its most visible moments: a published finding, a clinical trial or a new treatment. But those moments depend on years of less-visible work: researchers must gather evidence, develop the right tools, test promising ideas and determine what is safe before a new approach can reach people.

For those affected by Fanconi anemia, this groundwork is especially important. People with FA face an extraordinarily high risk of cancer and can be particularly vulnerable to the harmful effects of standard treatments.

Three recent FCF investments show how laboratory research and clinical experience work together to enable us to pursue better options.

Exploring whether gene therapy could prevent oral cancer

People with FA face a substantially increased risk of head and neck cancer, particularly cancer in the mouth. Researchers are asking whether gene therapy might one day help reduce that risk before cancer develops.

With FCF support, Markus Grompe and his team at Oregon Health & Science University are testing this idea in FA mouse models. The researchers are studying whether gene therapy can be delivered to tissues lining the mouth and evaluating its safety and potential effectiveness.

This work is preclinical, meaning more laboratory research will be needed before researchers can determine whether this approach should advance toward study in people.

Identifying drugs that may be safer for people with FA

Cancer prevention and treatment both present a central challenge in FA: A drug must not only work against cancer, but also be safe for people with underlying DNA-repair vulnerabilities.

Markus Grompe and Craig Dorrell at Oregon Health & Science University are testing potential cancer-prevention compounds and screening chemotherapy drugs in FA mouse models.

The goal is to build a stronger body of evidence about which compounds may prevent or treat cancer without causing unacceptable harm in FA. This research is also preclinical, with the idea that it will help researchers prioritize the most promising approaches for further study.

Turning shared clinical experience into evidence

Because FA-associated cancers are rare, important information can remain scattered across individual cases and institutions. FCF’s Virtual Tumor Board brings clinicians and researchers together to discuss complex cancer cases and share their expertise.

Now, FCF is funding Agata Smogorzewska and Tamar Berger at The Rockefeller University to take the next step: gathering and analyzing medical information from individuals whose cases were presented through the Virtual Tumor Board.

Many individuals and families have already consented to participate, and information has been shared with the research team for analysis. The project is expected to produce two scientific publications, including the first published analysis of a range of FA-associated cancers discussed through an FA-specific tumor board.

This work will provide the first comprehensive analysis of FA-associated cancers presented through a virtual tumor board housed outside an academic institution. The findings will give clinicians and researchers valuable information about the diagnosis, treatment and outcomes of FA-associated cancers and help influence future cancer care guidance.

Connecting research at every stage

Each project addresses a different part of the same urgent challenge:

• Testing whether oral gene therapy could reduce cancer risk
• Screening prevention and treatment drugs for effectiveness and FA-specific safety
• Turning clinical experience into evidence the field can use

Together, they show why laboratory and clinical research can’t happen in isolation. Questions and experiences from cancer care can help guide research priorities, while laboratory studies can identify approaches that may eventually warrant further clinical investigation.

Across these three projects, FCF has committed $631,164. This is what sustained research investment makes possible: connecting work across different stages so that evidence, tools and promising ideas can continue moving toward safer cancer care.

The post Building the Evidence for Safer Cancer Care in FA appeared first on Fanconi Cancer Foundation.

Living with Fanconi anemia, or caring for someone with FA, brings ongoing uncertainty, complex medical experiences and emotional strain. These experiences affect more than physical health. They can also shape mental health, relationships, daily routines and a person’s sense of safety and connection.

The Fanconi Cancer Foundation is pleased to introduce the Mental Health and Wellbeing Toolkit, a new resource offering practical tools and trusted guidance for people living with FA and those who care for them.

Why this resource matters

Research is helping us better understand the mental health experiences of adults with FA. Nearly half of adults who participated in one recent study screened positive for symptoms of post-traumatic stress. Many also reported symptoms of anxiety and depression, along with fatigue, sleep disturbance, chronic pain and unmet mental health needs.

Caregivers and care partners may also carry significant emotional strain as they navigate complex care, repeated medical stress and uncertainty about the future.

These experiences can feel isolating, but no one should have to navigate them alone. Mental health support is an important part of caring for the whole person and the people who support them.

Practical tools for real-life needs

Developed in partnership with Give an Hour, the toolkit brings together research-informed guidance, community perspectives and exercises that can be used during everyday stress as well as more difficult moments.

The toolkit includes resources to help individuals and caregivers:

• Recognize signs of emotional distress
• Practice self-compassion and manageable forms of self-care
• Navigate isolation, grief and uncertainty
• Identify and strengthen support systems
• Talk with children about mental health
• Prepare for emotional or medical crises
• Find a mental health professional who understands trauma and medical complexity
• Explain FA-related experiences and care needs to a provider

The toolkit also includes worksheets that can be completed, printed or shared, including an emotions tracker, support system map, crisis response plan and mental health storyboards for individuals with FA and caregivers.

For moments when everything feels overwhelming, the toolkit begins with a simple PACE exercise: pause, act on one simple step, connect, engage in self-care and engage in extra support.

Use the toolkit in the way that works for you

You don’t need to read the toolkit from beginning to end. You might begin with one exercise, return to a section during a challenging time or share a provider resource with a counselor or member of your care team.

The toolkit is grounded in choice, pacing and safety. Some topics may bring up strong emotions, and it’s OK to pause, skip a section or reach out for support.

FCF advocates Erica Williams and Faith Barbe provided feedback to help ensure the resource reflects the experiences and needs of the FA community. Clinical and research experts also reviewed and contributed information. Finally, we thank partners Give An Hour for providing much of the resources we could adapt to the FA community.

We hope this toolkit helps you feel more prepared, more supported and less alone in whatever you’re carrying.

You can also visit FCF’s mental health webpage to learn about counseling, one-on-one coaching, research and other resources available to the FA community.

This toolkit is an educational and supportive resource. It isn’t a diagnostic tool or a substitute for individualized medical or mental health care. If you’re in the United States and experiencing emotional distress or need immediate support, call or text 988. If you’re outside the U.S., visit FindAHelpline.com.

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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.

At the 2025 Fanconi Cancer Foundation Scientific Symposium in Minneapolis, the Foundation presented its Lifetime Achievement Award to Dr. John E. Wagner, MD, in recognition of his decades of groundbreaking work and unwavering commitment to improving the lives of people with Fanconi anemia (FA).

The award was introduced by Lynn Frohnmayer, co-founder of the Fanconi Cancer Foundation, who reflected on Dr. Wagner’s remarkable influence on the field, and on her own family’s journey. “I recently wrote to John telling him I’d be introducing him for this award,” she said. “He replied, ‘Ha ha. This makes sense. You got me into this—and what a journey it has been.’”

A Legacy of Compassion and Discovery

Dr. Wagner serves as Professor of Pediatrics, Co-Director of the Center for Translational Medicine, and Founding Director of the Institute for Cell, Gene and Immunotherapies at the University of Minnesota. His pioneering research in cellular therapies has transformed the landscape for children and adults with FA.

Lynn recounted how, in the 1980s, families affected by FA faced devastating barriers to care. “If you had a child with FA and no matched donor, you could not find a transplant center willing to help,” she said. “One huge concern was graft-versus-host disease, a potentially lethal complication.”

At that same time, Dr. Wagner, then at Johns Hopkins, was developing an innovative method called counterflow elutriation, which removed specific immune cells from donor marrow to reduce the risk of graft-versus-host disease.

In 1994, when Lynn and her husband, David, learned that their daughter Kirsten had developed leukemia, they turned to Dr. Wagner for help. He agreed to try the new elutriation approach with her, the first time it had been used in an FA transplant. “He was a magnificent physician,” Lynn said. “Brilliant, deeply caring, creative, and forever willing to try a new approach when faced with a challenge.”

Left: Dr. Wagner accepting the Lifetime Achievement Award from FCF Co-Founder Lynn Frohnmayer (L) and Board President Lisa Mingo (R)

Right: Dr. Wagner with his family

Transforming Transplantation for FA

Dr. Wagner went on to pioneer the use of umbilical cord blood as a source of stem cells for transplant, a breakthrough that has since saved countless lives. His work also advanced the idea of embryo selection, allowing parents to conceive a healthy, genetically matched sibling who could serve as a stem cell donor. This innovation led to the birth of FA patient Molly Nash’s brother, Adam, in 2000, an event that captured global attention and opened new ethical and scientific conversations.

Another of Dr. Wagner’s lasting contributions came through his 1998 Fanconi Anemia Research Fund grant to test the safety and effectiveness of a then-novel drug, fludarabine. The results were transformative: transplant survival rates for individuals with FA rose from 15–20 percent to more than 60 percent, and later to over 90 percent today. “Literally overnight,” Lynn said, “we went from near-hopeless odds to outcomes we could only dream of.”

A Journey of Bold Ideas

In his acceptance remarks, Dr. Wagner reflected on that journey with humility and humor. He shared stories from his early days at Johns Hopkins and the many families, scientists, and clinicians who shaped his work. “As every parent would say,” he noted, “we don’t have enough time. We have to have bold ideas. We have to take risks.”

He revisited the controversies and ethical challenges surrounding embryo selection, recalling debates with religious leaders and global media attention that led to threats to his own safety. However, he emphasized the value of open, respectful dialogue between science, ethics, and faith, a point shared with him by Pope Benedict when he was invited to the Vatican in 2011.

Dr. Wagner closed his remarks by honoring the individuals with FA whose courage has guided every advance in his career. “We have to take chances because we might make a difference,” he said. He recognized his colleagues, his wife, Lisa, and the many families who trusted him with their care. “These are the true pioneers,” he told the audience, inviting all who had participated in FA research and treatment to stand together.

Before concluding, he offered a message to clinicians and researchers carrying the work forward: “Engage the public. Tell the truth, even when it’s hard or not well received. Think deeply about what should be done, not only what can be done. Collaborate with ethicists and always keep your promises to the people you serve. Even when an experiment doesn’t achieve what you hoped, learn from it, because that learning will move the field forward.”

Continuing the Work

Today, Dr. Wagner’s commitment to the FA community continues through his service on the Fanconi Cancer Foundation’s Board of Directors and Scientific Advisory Board, and through his focus on one of the greatest challenges ahead: understanding and preventing FA-related cancers. His leadership and collaboration across disciplines are helping to bridge the fields of immunotherapy, gene editing, and cancer biology, advances that will shape the next generation of care for people with FA.

As Dr. Wagner reminded the community, progress requires courage. The work is not finished. To answer the next unanswered questions, researchers and advocates must continue to take bold risks, ask hard questions, and invest in ideas that have the power to transform what’s possible once again.

Through decades of scientific innovation and personal dedication, Dr. Wagner has helped transform the outlook for individuals with Fanconi anemia, from a disease once defined by childhood loss to one where longer, fuller lives are possible. The Fanconi Cancer Foundation is honored to celebrate his extraordinary contributions and his enduring partnership with the FA community.

The post Honoring Dr. John E. Wagner for a Lifetime of Impact appeared first on Fanconi Cancer Foundation.

Nearly 300 members of the global Fanconi anemia community gathered in Minneapolis for the 2025 Scientific Symposium and Retreat for Adults with FA, three days that blended science, lived experience, and hope.

Attendees joined from 18 countries across six continents, representing Argentina, Australia, Canada, Denmark, the Dominican Republic, Germany, Kenya, Mexico, the Netherlands, Pakistan, South Africa, the United Kingdom, the United States, France, Spain, Egypt, Israel, Brazil, Poland, and Portugal.

Community Voices Lead the Way

The meetings opened with a joint town hall that united adults with FA, caregivers, clinicians, and researchers. In heartfelt discussions, individuals with FA shared the realities of daily life with the condition, reminding all in attendance that every scientific advancement begins with real, human experiences.

At the Retreat for Adults with FA, sessions focused on quality of life and access to care. A standout mental health discussion emphasized the need for accessible, FA-informed support and highlighted emerging efforts to connect community members with specialized providers.

Cancer prevention was another central theme. Researchers from the NIH, Germany’s Cancer Awareness Team, and The Rockefeller University shared updates on cancer screening initiatives, while Dr. Agata Smogorzewska previewed the upcoming cancer prevention study. Many attendees participated in on-site oral screenings, underscoring the event’s practical and preventive focus.

“Science doesn’t move forward without community, and community is stronger because of the science.” – attendee 

Members of the FCF Patient Advocacy Program also made history this year, presenting posters for the first time that explored advocacy’s impact on health and daily life. Advocates led panels and spoke alongside researchers, strengthening the bridge between lived experience and scientific discovery.

And of course, no global gathering is complete without a little celebration. The after-party hosted by the German Team was a hit! It was complete with traditional foods and drinks, a lively photo backdrop (featuring some legendary poses), spontaneous singing, and plenty of dancing. 

Shaping the Future of FA Research

At the Scientific Symposium, collaboration took center stage. And behind the scenes, the Scientific Advisory Board (SAB) met to refine FCF’s scientific strategy, focusing on the FA Cancer Consortium and Gene Editing Initiative.

The first in-person FRIENDS Executive Committee meeting marked another milestone. The group’s discussions advanced data harmonization and helped identify top priorities for the FA Research Data Commons, ensuring a unified, global approach to FA research.

International Summit

This year’s International Summit brought together researchers, clinicians, and patient support group leaders from across Europe, Africa, North and South America, and beyond. The exchange of ideas across borders continues to be one of the greatest strengths of this community, and it was inspiring to see collaborations forming in real time.

Discussions spanned topics from cancer prevention to emerging genetic therapies, reflecting a shared commitment to ensuring that progress in FA research benefits individuals and families everywhere. The energy and openness of the Summit embodied what makes the FA community truly global.

Dive Deeper into the Science

Two keynote speakers showcased groundbreaking research shaping the future of cancer and FA biology.

Dr. Siyuan (Steven) Wang, PhD presented “Chromatin Tracing and the Evolution of Single-Cell 3D Genomes in Kras-Driven Cancer.” His work revealed stage-specific changes in 3D genome organization as cancer progresses, offering new pathways to potential diagnostic biomarkers.

Dr. Mike Spencer Chapman, PhD shared insights on “Clonal Dynamics of Stem Cell Transplantation.” His study uses somatic mutations as clonal markers to track donor and recipient cell behavior over time—findings that may guide improved transplant strategies.

Poster Award Highlights

• Best Basic Poster – Cecilia Ayala-Zambrano: Loss of FANCA modifies the 3D organization of the genome in squamous carcinoma cells. FANCA deficiency was shown to alter genome architecture, increasing translocations and new gene fusions.
• Best Translational Poster – Colette Rogers: In vivo correction of a genetically humanized FA murine model using digital editing technologies. Demonstrated proof-of-concept for in vivo gene editing in bone marrow stem cells for FA.
• Best Clinical Poster – Luitpold Distel: Radiosensitivity in patients with breast cancer risk genes in comparison to Fanconi anemia. Found that radiation sensitivity among individuals with certain breast cancer risk genes was modestly higher than average but variable.

Recognizing Excellence and Commitment

The meetings also honored outstanding contributions across the FA community:

• Lifetime Achievement Award: Dr. John Wagner—Professor of Pediatrics and Founding Director of the Institute for Cell, Gene and Immunotherapies at the University of Minnesota—for his pioneering leadership in FA research and cell therapy.
• Winn/Byrd Award for Adults with FA: Fatma Isaak, with Louise Dalgleish as first runner-up.
• Award of Appreciation: Kidz1stFund, recognized for its extraordinary commitment to FA research. Every dollar raised supports research at the University of Minnesota, totaling more than $13.6 million, while 7,700 individuals have joined the national marrow registry through its drives.
• David B. Frohnmayer Early Investigator Award: Dr. Lisa McReynolds for her promising work advancing FA science.

Looking Ahead

The 2025 meetings captured what defines the Fanconi Cancer Foundation community: collaboration, compassion, and shared purpose.

From deeply personal discussions about mental health to forward-looking conversations on data sharing and gene editing, the Symposium and Retreat demonstrate how community and science move forward together.

We look forward to seeing you in Phoenix, Arizona, October 1-3, 2026!

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EUGENE, OREGON – In 2015, Phil and Penny Knight made a bold ten-year pledge of $10 million to the Fanconi Cancer Foundation (FCF) to address the extraordinarily high risk of life-threatening cancer in people with Fanconi anemia (FA), a rare genetic disorder that often leads to highly aggressive malignancies at a young age. Their investment in research focused on FA cancer has provided new knowledge on understanding of DNA-repair biology and its effects on cancer. Research supported by the Knights has shaped best practices in prevention, early-detection, and treatment strategies for cancer, benefiting people with FA and providing far-reaching benefits for the broader population.

Katherine De Los Santos’ lived experience shows the impact Phil and Penny Knight have made. A few years ago, persistent chest pain led her to enroll in the FCF-funded cancer screening trial at the National Institutes of Health, supported by the Knights’ gift. Her esophageal cancer was found early, allowing for swift treatment and recovery. Today, Katherine is cancer-free, continuing her studies toward her dream of becoming a pediatric hematologist-oncologist, and is living proof that early detection saves lives.

“If not for this research,” Katherine shares, “not only would I not be here today, but I wouldn’t have a second chance to pursue my dreams and enjoy the small pleasures of life. Since being in remission this year, I have graduated Mercer University with my master’s degree and gotten engaged to the love of my life thanks to this research!” 

A Decade of Breakthroughs

Over the last ten years, the Knights’ support has enabled research that would never have happened without private philanthropy. Their gift has been instrumental in:

• Advancing early cancer detection: Funding worldwide efforts focused on using brush biopsies, a noninvasive screening tool now showing promise for cancer detection in the broader population.
• Driving innovation in cancer prevention trials: Laying the groundwork for therapies that can prevent cancer, leading to an upcoming clinical trial. 
• Pursuing targeted cancer treatments: Supporting the first head and neck cancer clinical trial for advanced oral cancer in FA, aiming for more effective and less toxic treatment options.
• Advancing gene editing approaches: Supporting research into innovative techniques like base and prime editing to fix the mutations in DNA that cause FA. By correcting these mutations in FA cells, scientists are developing a precise, less risky alternative to bone marrow transplantation and cancer therapy. The ultimate cure for FA will entail gene therapy, which has the potential to fix the underlying genetic cause of this disease. 
• Expanding understanding of the BRCA (breast cancer)–DNA repair pathway: Illuminating mechanisms that cause tumor formation and informing new strategies to prevent and treat cancers affected by faulty DNA repair in all people.

Inspired by Friendship and Shared Vision

The Knights have been loyal supporters of the Fanconi Cancer Foundation for decades. In 2015 they became champions for the FA community with their commitment of a $10 million pledge focused on addressing the urgent cancer risk in FA. By then, two of Lynn and David Frohnmayer’s three daughters had passed away from complications of the disease, and David himself died in 2015 from cancer. Their third daughter, Amy, died of leukemia the following year. 

“The deep sadness of losing three remarkable daughters to FA and the loss of my terrific husband to cancer is with me daily,” shares Lynn Frohnmayer, FCF Co-Founder. “It is mitigated only by the knowledge and belief that the generosity of others, and most especially the transformative gifts of the Knights, is preventing early deaths, greatly extending life expectancy, and has given hope to FA families around the world. Words cannot express the enormity of my gratitude.”

Impact Beyond FA

Although FA is a rare disease, the genes involved are part of a critical DNA repair pathway present in everyone, meaning the Knights’ investment in FA research has had a truly global impact. Our understanding of FA and FA cancer is advancing the broader field of cancer biology, influencing studies on breast, ovarian, and head and neck cancers, and informing prevention strategies that could help countless people.

“When our organization was founded in 1989, physicians considered this a pediatric disease, killing almost every patient in the first or second decade of life, writes Fanconi Cancer Foundation CEO Isis Sroka, PhD. “Today, most patients live into their late 20s, 30s 40s and even later. The game-changing gifts from the Knights are largely responsible for this remarkable expansion in life expectancy. Knowledge about the causes, prevention and non-toxic treatment of cancer developed because of their generosity has applicability for the population in general.”

John E. Wagner, MD, professor of pediatrics and co-leader of the Transplant and Cellular Therapy Program at the Masonic Cancer Center, University of Minnesota, underscores the impact of this research on patients: “Thanks to sustained FA research, survival after blood and marrow transplant now exceeds 90 percent, gene therapy is restoring marrow function in children, and earlier detection and new immunotherapies are changing what’s possible for people with FA. The Knights’ support helped turn discoveries in DNA repair and stem cell biology into today’s life-saving care.”

The Power of Philanthropy in Scientific Research

In today’s climate, with national research budgets under pressure, private donors like Phil and Penny Knight are vital. Their decade-long commitment is transformational, bringing hope to families and changing the trajectory of cancer research.

The discoveries made possible by the Knights’ gift will continue to shape the future of FA and cancer research for years to come. Their legacy shows how vision and generosity can spark remarkable progress, and reminds us that transformative change often starts with a single bold act. 

Learn more: The FA and Cancer Story

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About Fanconi Cancer Foundation
The Fanconi Cancer Foundation (FCF) is the leading organization worldwide dedicated to advancing research, advocacy, and support for people affected by Fanconi anemia (FA) and associated cancers. FA is a rare inherited disease characterized by bone marrow failure, leukemia, and a very high risk of cancer. FA stems from mutations in one of 23 genes, including notable breast cancer susceptibility genes BRCA1 and BRCA2. 

Founded in 1989 by parents Lynn and David Frohnmayer, FCF’s contributions have been instrumental in improving treatments such as hematopoietic cell transplant, significantly enhancing success rates and improving patient outcomes and life expectancy. Studying FA and its connection to cancer not only provides crucial insights into the disease itself but also contributes to a deeper understanding of the complex interplay between DNA repair mechanisms and cancer development. This research has the potential to inform the development of novel diagnostics, preventive strategies, and therapies for various types of cancer. By fostering collaboration and innovation, FCF continues to lead the charge toward effective treatments and ultimately a cure for Fanconi anemia and associated cancers.

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We know that caring for the whole person includes supporting emotional health. Recent research shows that many adults with FA and caregivers experience high rates of anxiety, depression, and post-traumatic stress. These challenges affect well-being and long-term health, as well as participation in research. We also know that there are many barriers to accessing quality mental health, let alone providers that understand FA. We’re committed to addressing this need by making mental health support more accessible for our community.

Quick Link: Access Support Here

Our Partnership With Give An Hour
To advance this commitment, FCF has partnered with Give An Hour (GAH), a national nonprofit dedicated to expanding access to no-cost mental health care and education. 

What This Means for You

• Access to care: Adults with FA and caregivers can connect to trained mental health providers through self-referral, referral from FCF, or referral from peer support volunteers.
• Peer support: GAH is training FCF volunteers in trauma-informed peer support, designed specifically to the rare disease community.
• Resources and education: We’re working with GAH and FCF advocates to  develop an FA-tailored mental health toolkit and educational materials.
• Rare-competent providers: GAH plans to train mental health professionals nationwide to better understand and support individuals and families affected by rare conditions.

See a message below from Julie Wells from Give An Hour:

Our Vision
This partnership is part of FCF’s broader commitment to improving quality of life for every person with FA and their caregivers. By addressing emotional well-being alongside medical care, we’re helping to build resilience, strengthen families, and ensure that no one faces FA alone.

Access Support by Clicking Here

Interested in becoming a trained FCF peer support volunteer? Contact communitysupport@fanconi.org. 

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