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.

Read the complete publications from this study:

FA Mental Health & Wellbeing Considerations: A Lay Summary

Mental health in the first generation of adults with Fanconi anemia 

‘‘I would love to talk to someone that actually understands’’: Psychosocial experiences of adults with Fanconi anemia

Overview of Psychosocial Experiences in Adults with Fanconi Anemia

The Psychosocial Experiences of Adults with Fanconi Anemia: A Participatory Mixed-Methods Research Study offers valuable insights into the mental health of adults with FA. The study, led by Drs. Megan Voss and Kathleen Bogart with an advisory council of FA adults, was funded by FCF in 2022. The study highlights that adults with FA report significantly poorer health-related quality of life compared to the general population. This includes higher rates of anxiety, depression, fatigue, sleep disturbance, and pain, as well as challenges related to cognitive function, physical function, and social participation.

One of the study’s key findings is that half of the participants screened positive for symptoms of post-traumatic stress disorder, with 33% screening positive for anxiety and 25% for depression. Additionally, 44% reported a known mental health disorder at some point in their lives, and half of those were currently experiencing active symptoms. Finally, 15% believed they were experiencing symptoms of a mental health disorder but had not been diagnosed with one. These findings highlight the high prevalence of mental health concerns within our community and the critical need for increased mental health support and screening by licensed professionals.

Understanding the Experiences of Family Caregivers

While this study focused on adults with FA, it is essential to acknowledge the experiences of family caregivers as well. Research on cancer caregivers shows that their mental health is closely linked to the health of the person they care for. When their loved ones receive mental health care, caregivers are three times more likely to access mental health support themselves (Litzelman, et al., 2021). Caregiving is an immense responsibility.

The burden of caregiving can lead to significant mental health challenges, with caregivers reporting higher rates of anxiety and depression than non-caregivers (Cleveland Clinic, 2022). Although we lack specific data on FA caregivers, we can infer from our community that they face similar challenges and need mental health support just as much as those they care for. Additional research focused specifically on caregivers is needed.

Summary of Evidence-Based Interventions to Support Mental Health & Well-Being

While there is much more to learn about the mental health challenges faced by the FA community, there are strategies that can be helpful. By addressing psychosocial factors, managing physical symptoms, and utilizing mental health interventions, the hope is to reduce the risk of individuals with FA developing mental health diagnoses.

Taking a whole-person approach to caring for individuals with FA and their caregivers is the most effective way to both modify risk and enhance overall well-being. This approach is best understood in the context of a broad definition of well-being, such as the one depicted in the model from the University of Minnesota. Well-being includes being happy and healthy in the broadest sense—not just physically, but also mentally, emotionally, and spiritually. It is possible for a person to experience significant physical health challenges yet still maintain high levels of well-being. Well-being is a state of being in balance or alignment, encompassing feelings of contentment, peace, purpose, harmony, and safety (University of Minnesota, 2024).

This model of well-being identifies six domains that impact mental health: health, purpose, relationships, community, security, and environment. The strategies recommended in this study can help enhance well-being by focusing on these domains.

At FCF, we are committed to prioritizing mental health as we continue to foster a supportive and resilient community.

We encourage you to explore the published studies at the top of this page, where you can find detailed evidence-based recommendations and insights to support mental health and well-being within the FA community. The report breaks down strategies into three practical levels, including those that can be done at the individual level, with the support of the local community, and with the support of one’s healthcare team. Individuals with FA and their family caregivers can advocate for themselves by providing their local providers with this information.

Furthermore, five key themes emerged from the research, which provide deeper insights into the mental health experiences of adults with FA:

1. Living with FA is a full-time job: Managing FA is a constant, all-encompassing task that requires ongoing attention and effort.
2. Struggling to find and access mental health care: Many adults with FA experience difficulties in finding mental health professionals who understand their unique needs, let alone their chronic illness.
3. Facing stigma and isolation: Stigma and trauma take a toll on mental health. Discrimination, body image issues, gender norm violations, isolation, and healthcare trauma can lead to mental health symptoms.
4. Grief, loss, and community connections: Connecting with the FA community has many benefits, but it can also involve grief when friends encounter serious medical problems.
5. Finding ways to cope and stay optimistic: Despite the challenges, many individuals with FA use various strategies to cope, such as staying occupied, cultivating optimism, and embracing their uniqueness.

These findings emphasize the need for tailored mental health care and the importance of trauma-informed support. Because individuals with FA often live far from FA Centers of Excellence, these findings also underscore the need for collaboration with local primary care providers, oncology teams, and mental health professionals.

The post Mental Health and Wellbeing for Individuals with FA and Caregivers: Key Insights and Recommendations from Research appeared first on Fanconi Cancer Foundation.

Name: Meng Wang, MD, PhD, FRCPath

Institution: Division of Nutritional Sciences, Cornell University, Ithaca, USA

Area of expertise: Fanconi anemia, DNA damage, aldehyde metabolism

My work:  

My lab aims to better understand what causes DNA damage in individuals afflicted with Fanconi anemia. During my postdoc with Dr. KJ Patel in Cambridge, UK, I became deeply fascinated by formaldehyde as an endogenously produced toxin that can cause DNA damage, leukemia, and accelerated aging of blood cells. Formaldehyde is especially toxic to Fanconi anemia patients due to their loss of protective mechanisms against formaldehyde-induced DNA damage. Building on this foundation, my lab at Cornell University now addresses two major questions: defining the biological factors and metabolic pathways that impact formaldehyde levels in the body, and devising novel therapies to reduce formaldehyde toxicity. By addressing these questions, we aim to develop preventative treatments for bone marrow failure and cancer in Fanconi anemia patients.

What motivates me to work on FA:  

When I was in clinical practice as a hematology specialty registrar (equivalent to hematology-oncology fellow) in the UK, I had the privilege of caring for young adults with leukemia, including individuals with Fanconi anemia. Witnessing the devastating impact of this disease on patients and their families motivated me to pursue postdoctoral research on this condition. I was fortunate to be awarded a Cancer Research UK fellowship to work with Dr. KJ Patel on aldehyde biology in Fanconi anemia. During my fellowship, I realized that our understanding of what causes DNA damage in Fanconi anemia remains limited. This insight convinced me that identifying and reducing these DNA damaging factors could offer real hope for preventing cancers in these patients.

When I’m not in the lab, you could find me: 

My family and I love living in Ithaca as we get to work in a great academic institution with beautiful natural surroundings. I enjoy taking my two kids swimming in the lake and playing in the parks followed by cooking them a good meal (as long as they eat it). My wife and I recently joined our local Finger Lakes Running Club where we run along spectacular gorges and lakesides. Despite the cold winters in Ithaca, you might also find me in Cornell University stadium supporting the men’s lacrosse team.

Anything else you want FA families to know?  

One of the most rewarding experiences in my career has been attending Fanconi Cancer Foundation (FCF) meetings to discuss my research directly with Fanconi anemia patients and their families. The excitement and interest from FA families in our research is both overwhelming and humbling. I particularly value how these families relate to research through their personal lived experiences, such as insights into the dietary patterns and food preferences of FA patients. This type of information injects new ideas into our research and drives us toward better treatments for Fanconi anemia.

The post Behind the Research with Meng Wang appeared first on Fanconi Cancer Foundation.

Institution: Laboratorio de Citogenetica, Instituto Nacional de Pediatría, Mexico City, México

Area of expertise: Medical genetics, dysmorphology.

My work:  

I am a medical geneticist from Mexico City, introduced to the field of Fanconi anemia (FA) by my mentor, Dr. Sara Frias, whom we fondly call the “Fanconizer in Chief.” Together with my colleague Moisés Fiesco Roa, we manage the Fanconi Anemia Registry in Mexico (RAFMex). We focus on studying the physical traits associated with the condition. While the physical phenotype of individuals with FA is known to be highly variable, there are recognizable patterns of physical features consistent with an FA diagnosis.

Leveraging our background as dysmorphologists—the study of human body structure variations—we systematically document the physical characteristics of individuals with FA. Our goal is to better understand which traits are part of Fanconi anemia and explore hypotheses about how these features develop.

Ultimately, we aim to propose clinical diagnostic criteria for FA. This would help raise diagnostic suspicion during initial medical visits and improve the selection of individuals for confirmatory FA testing, which is often difficult to access and expensive, particularly in low- and middle-income countries.

A detailed description of the physical phenotype, one of the least studied aspects of FA, could also provide valuable data for making genotype-phenotype associations and help explain why certain physical patterns are linked to specific genotypes.

What motivates me to work on FA:  

Working on FA is exciting! Despite astonishing advances in the field there is still much to learn. The community is vibrant, the collaborative spirit between individuals with FA, caregivers, physicians and scientists is a fantastic setting that ensures research has a direct impact in the lives of people living with FA.

There are abysmal differences around the world regarding access to information, follow-up, and treatment for individuals with FA. I am committed to do everything I can to reduce this gap, and to put a spotlight on the work that we do in Mexico that can benefit the FA community worldwide.

When I’m not working, you could find me:  

Asking my daughters to wear shoes and sweaters, reading adventures books with them, and practicing spells to keep scary thoughts away. You can also find me laughing at my husband’s jokes and enjoying good times with friends and family.

What I want FA families to know:

Complicity between individuals with FA and scientists/physicians is a very potent tool to tackle the relevant and pressing questions that result in advancing the well-being of individuals with FA. It is also a powerful motor to stimulate scientists to bring their best to the table. Being part of the FA community is a real privilege.

The post Behind the Research: Benilde García de Teresa appeared first on Fanconi Cancer Foundation.

Name:  Associate Professor Andrew Deans

Institution: St Vincent’s Institute, Melbourne, Australia

Area of expertise: DNA repair, biochemistry and gene editing

My work:

I’ve spent the last 18 years trying to understand how Fanconi anemia proteins work together to fix damaged DNA. This work is essential to understand the underlying cause of FA, and why there are difference outcomes in patients with different gene mutations. In my lab we have used protein chemistry to understand (among other things) how FANCM recognizes DNA damage, how the Fanconi core complex assembles, and the critical role of ubiquitination (the process of adding the ubiquitin protein to other proteins) in clamping FANCD2 and FANCI onto damaged DNA. These functions of FA proteins are central to the sensitivity of FA patients to certain DNA damaging agents, but also how they will respond to new therapies such as gene editing.

My lab’s vision for the next five years is to apply what we have learned to develop molecules that can alter FA protein behavior. These could be used to treat cancer or alter gene editing outcomes. We are also excited to be part of an international team of researchers supported by FCF that aims to realize gene editing as a near-future therapy for individuals with FA. 

What motivates me to work on FA: 

As an eager young scientist I was originally motivated by the complexity of FA – there was so much that was unknown! Later, at FCF meetings, I was introduced to clinicians and so many families, who showed me that my work meant more than just scientific discovery. Now, while the science is still revealing new things every week, I always work to make a difference that can change lives.

When I’m not working, you could find me: 

With my wife and two beautiful boys. We love the outdoors of Australia, be it on a bushwalk in the outback, wildlife spotting in our local Gippsland, or a boat trip to the Great Barrier Reef. You all should visit!

Anything else you want FA families to know?

I admire you! Research never feels fast enough, but lab researchers are as keen as you are to find new knowledge, new treatments and new cures. You should also know that FCF has put FA at the front of the queue in so many areas of discovery.

The post Behind the Research: Andrew Deans appeared first on Fanconi Cancer Foundation.

This groundbreaking grant is designed to empower young investigators to pursue highly innovative research projects that may not fit within traditional funding channels. By promoting and supporting creative, paradigm-shifting cancer research, we aim to catalyze significant scientific discoveries and help talented researchers gain scientific independence.

Understanding Fanconi Anemia (FA) and Cancer

Fanconi anemia (FA) is a rare genetic disease caused by mutations in FA genes, integral to the FA/BRCA DNA repair pathway. Individuals with FA face a heightened risk of developing various cancers, including squamous cell cancers of the head and neck, esophagus, and anogenital regions, along with an elevated risk for other solid tumors.

Advancements in stem cell transplants have transformed FA from a childhood disease characterized by bone marrow failure to a recognized cancer predisposition syndrome. However, treating tumors in individuals with FA poses unique challenges due to underlying defects in the FA/BRCA DNA repair pathway.

Fostering Innovation and Collaboration

Through this grant, we seek to deepen our understanding of the FA/BRCA DNA repair pathway and its link to FA-associated cancers. By supporting research in this area, we aim to inform the development of novel diagnostics, preventive strategies, and therapies for individuals with FA and beyond.

Opportunities for Researchers

Applications are invited from researchers currently working in the FA field, as well as investigators with experience in other areas of cancer or biomedical research with an interest in studying FA-associated cancers. The grant provides $450,000 over three years to cover various research expenses, from salary and benefits to laboratory supplies and travel.

Apply Now

Are you ready to make a difference in cancer research?

Visit here to learn more about eligibility requirements, application details, and more.

The post Breaking Ground in Cancer Research: Introducing the Fanconi Cancer Foundation-AACR NextGen Grant 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.

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 16, 2024

Projects Awarded in 2024

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

In collaboration with the American Association for Cancer Research, a global leader in cancer research, we’ve presented Dr. Wang with the 2024 Fanconi Cancer Foundation-AACR NextGen Grant for Transformative Cancer Research. Through this groundbreaking work, Dr. Wang seeks to prevent cancer in patients with Fanconi anemia (FA) by targeting specific nutritional and metabolic pathways.

The accumulation of DNA damage and genetic mutations ultimately causes cancer. This process is greatly accelerated in children and young adults with FA. A recent advancement in the field is the discovery that our bodies produce high quantities of reactive chemicals called aldehydes, which cause DNA damage in FA patients. In this project, Dr. Wang will leverage mouse models and FA patient samples to study the nutritional and metabolic pathways that regulate aldehyde production, with the aim of targeting these pathways as novel cancer prevention strategies for FA patients.

Oral Cavity Gene Therapy
Markus Grompe, MD
Oregon Health and Science University
$91,173

This supplemental funding builds on the groundwork laid by the 2022 grant awarded to Drs. Markus Grompe and Raymond Monnat, titled Oral Mucosal Gene Therapy as a Prevention for FA-Associated Cancers. The proposed research focuses on reducing the risk of squamous cell carcinoma (SCC) in individuals with Fanconi anemia (FA) by correcting the FA genetic defect in K14-positive basal stem cells, which are the origin of SCC.

People with FA are at much higher risk of developing SCC because their K14 basal stem cells in the squamous epithelium are particularly vulnerable. Gene therapy that corrects this genetic defect directly in these cells offers a potentially transformative approach to cancer prevention. This research seeks to determine if gene-corrected oral stem cells have a selective advantage, allowing healthy cells to outcompete those with mutations. The results will help assess the viability of targeted gene therapies for FA, advancing a new and highly promising strategy to reduce cancer risk in this population.

Small Molecule Screening in Fanconi Anemia Mice
Markus Grompe, MD
Oregon Health and Science University
$215,991

This supplemental funding builds on the work from the 2020 Fanconi Cancer Foundation grant awarded to Dr. Grompe, titled Chemoprevention of Cancer in Fanconi Anemia, and additional research supported by the Stand Up To Cancer head and neck cancer team in 2022. Chemoprevention studies are crucial because people with FA have an extremely high risk of developing squamous cell carcinoma (SCC), and standard cancer treatments are often too toxic for them. This project uses advanced animal models to identify compounds that may delay or prevent cancer from developing. It addresses a critical need in FA care by identifying chemopreventive agents that are both safe and effective for this vulnerable population. These findings will help lay the groundwork for future clinical trials, aiming to improve cancer prevention and treatment outcomes for people with FA.

Supplemental Funding: Development of In Utero Therapies for Fanconi Anemia
Agnieszka Czechowicz, MD
Stanford University
Additional Amount Funded: $50,000

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 experiments to determine whether gene editing in utero (during gestation) can correct FA gene variants in various tissues of the body.

Spatial Analysis of FA Tumors for Detection of Their Immune Repertoire and Potential Actionable Targets
Alfredo Rodríguez, PhD
National Autonomous University of Mexico
Amount Funded: $250,000

This newly funded research project aims to better understand the unique challenges Fanconi anemia (FA) patients face when it comes to developing squamous cell carcinoma (SCC). SCC tumors consist of various cell types, including cancer cells, immune cells, and other supportive cells. By studying how these cells interact, scientists hope to uncover new ways to treat cancer in FA patients, especially by boosting the body’s immune response. Using advanced technologies, the research team will analyze archived tumor samples to identify key markers that could lead to better diagnosis, personalized treatment, and new therapies, particularly immunotherapy, for FA patients with cancer.

Supplemental Funding: Development and Characterization of FA-HNSCC DX Models
Jennifer Grandis, MD; Daniel Johnson, PhD
University of California San Francisco
Amount Funded: $50,000

This project focuses on improving treatment options for young adults with Fanconi anemia (FA) who develop squamous cell carcinoma (SCC). Because FA patients have DNA repair defects, traditional cancer treatments that damage DNA can be harmful or ineffective. To address this, researchers are creating specialized preclinical models to find cancer therapies that do not rely on DNA damage. With additional funding, they plan to expand these models, develop new ones from metastatic cancer samples, and make them widely available to help identify safer and more effective treatments for FA patients.

Transforming Treatment of Inherited Bone Marrow Failure in Fanconi Anemia by Precise In Vivo Genome Editing
Paula Rio, Jacob Corn, Andrew Deans, Hans-Peter Kiem, Branden Moriarity, David Liu, Toni Cathomen
Instituto De Investigación Sanitaria Fundación Jiménez Díaz; Harvard University; Eth Zurich; St. Vincent’s Institute Fitzroy; Fred Hutchinson Cancer Center; University Of Minnesota; Medical Center – University Of Freiburg, Institute For Transfusion Medicine And Gene Therapy
Amount Funded: $1,258,190

FA is characterized by chromosomal abnormalities and increased susceptibility to cancer. Allogeneic bone marrow transplantation is currently the only treatment for bone marrow failure, but its use is limited by the need for a suitable donor and potential side effects.

Base and prime editing will be implemented to target frequent mutations described in individuals with FA and will be combined with optimized viral and non-viral delivery systems to target HSCs in vivo to provide a promising avenue for the treatment of this inherited bone marrow failure syndrome.

Progress update: The main goal of the project is to show that it is possible to correct blood stem cells directly in the body using gene editing. In the first phase of their work, researchers have fine-tuned various gene editing tools to effectively correct FA cells. They have also created the necessary models to test these gene editing and delivery methods. Since the grant began in February 2024, the team has accomplished the following:

• Has achieved high levels of editing in human HSCs.
• Received ethics approval to use prime editor derivatives to increase the potential for allele editing,
• Begun testing RNA delivery methods,
• Used digital editing technology to correct the Spanish founder FA mutation,
• Generated a humanized mutant mouse model that has reduced stem cell fraction, craniofacial developmental defects, and increased mitomycin sensitivity, and
• Has achieved high levels of editing in human HSCs.

Projects that Wrapped Up in 2024

Precision Therapy for FA and Human Papillomavirus (HPV)-Related Head and Neck Cancer
Agata Smogorzewska, MD, PhD; Barbara Burtness, MD; Markus Grompe, MD; Silvio Gutkind, PhD; Amanda Paulovich, MD, PhD; Alexander Pearson, MD, PhD; and Bing Zhang, PhD
The Rockefeller University, Yale University, Oregon Health and Science University, University of California San Diego, Fred Hutchinson Cancer Research Center, University of Chicago, and Baylor College of Medicine

Funded in 2021 in collaboration with Stand Up to Cancer, the Farrah Fawcett Foundation, the American Head and Neck Society, and the Head and Neck Cancer Alliance

The goal of the SU2C grant was to develop new approaches to address head and neck cancers, particularly cancers related to HPV and FA. Led by Fanconi Cancer Foundation (FCF) Scientific Advisory Board Members Dr. Agata Smogorzewska and Dr. Barbara Burtness, the team tested preventive and therapeutic strategies for head and neck cancer prevention in cellular and animal models of FA- and HPV-associated head and neck cancer. Key accomplishments during the study period included the following:

• Algorithms developed by Dr. Pearson’s lab are improving in classifying head and neck cancers in individuals with FA. 
• Onvansertib works well with dacomitinib and afatinib to slow the development of HPV positive HNSCC cells.
• Metformin and naproxen administered together more efficiently prevent cancer development in mouse oral mucosa than when administered separately.
• Chemoprevention studies have revealed that treatments using combinations of drugs significantly reduce the number of abnormal epithelial tongue lesions.
• A lack of ADH5 and other aldehyde detoxification enzymes led to poorer growth of FA-deficient cells, suggesting that enzyme activity may be needed to slow cancer development in individuals with FA.

Fanconi Anemia Associated Neurological Syndrome – A Search for a Cause with Advanced Technologies
Investigators: Prashanth Ramachandran, MBBS, BMedSci and Michael Wilson, MD, MAS
Institutions: University of Melbourne and University of California, San Francisco
Funded in 2022

The goals of Dr. Ramachandran and Dr. Wilson’s study were to describe a phenotype for Fanconi Associated Neurological Syndrome (FANS), profile the peripheral blood and cerebrospinal fluid (CSF) immune response in individuals with FANS, and detect possible inflammatory triggers. FANS is characterized by the development of brain lesions, with some individuals developing large pseudo-tumors. Dr. Ramachandran and Dr. Wilson recruited six individuals with FANS into their study. All six individuals consented to phenotyping, and three individuals consented to the collection of blood and CSF for further analysis. Dr. Ramachandran and Dr. Wilson’s overall findings suggested that thickening and leakage of the blood vessels in the blood and eyes is the primary driver of FANS development. All six individuals enrolled in this study developed retinal vasculopathy, which can result in the progressive loss of vision. These findings are significant for individuals with FANS because prior studies have failed to demonstrate clear causes of FANS development, and knowledge of the cause of FANS may help develop improved screening practices and treatments. 

Psychosocial Experiences of Adults with Fanconi Anemia: A Participatory Mixed-Methods Research Study
Kathleen Bogart, PhD, and Megan Voss, DNP
Oregon State University and University of Minnesota
Funded in 2022

Dr. Bogart and Dr. Voss conducted the first large study on mental health in adults with Fanconi anemia (FA), revealing high rates of PTSD, anxiety, and depression. Interviews with participants highlighted challenges like stigma, fertility issues, and bone marrow transplants, while positives included support from the FA community, overcoming transplant, and unique opportunities because of FA. A key finding was the need for more accessible mental health care, especially for underrepresented groups. The researchers recommend standardized mental health screenings and treatments for people with FA. You can learn more about their recommendations here.

Synthetic Lethal Approaches to Treatment of Fanconi Anemia (FA) Gene Mutant Head and Neck Cancer
Barbara Burtness, MD, and Gary Kupfer, MD
Yale University and Georgetown University
Funded in 2020

Dr. Burtness and Dr. Kupfer’s study aimed to achieve several objectives: first, they sought to pinpoint and confirm specific genetic mutations in a type of head and neck squamous cell carcinoma. Next, they aimed to create laboratory models of this cancer using samples that had the identified mutations. Finally, they tested different drugs to see if they could effectively target the vulnerabilities in these mutated cells.

Their research revealed two promising approaches for treating head and neck cancer with Fanconi gene defects. One approach involves using existing drugs, which are ready for immediate testing and could soon be used in clinical trials. The other approach focuses on developing a new drug that targets a previously unexplored biological pathway. Both strategies hold potential for improving treatment outcomes for individuals with Fanconi anemia who are at risk of developing head and neck cancer.

A Small Molecule Approach to Overcome Replication Dysfunction in FA
Sharon Cantor, PhD, and Peter Kurre, MD
University of Massachusetts Medical School and Children’s Hospital of Philadelphia
Funded in 2020

Dr. Cantor and Dr. Kurre’s study aimed to address bone marrow failure in individuals with FA by targeting the DNA replication issue underlying the condition. They developed a reliable method to assess DNA replication gaps, which are elevated in cells lacking the FA pathway. Using bone marrow from mice with specific FA gene deficiencies, they successfully expanded long-term hematopoietic stem cells (HSCs) in vitro, demonstrating their potential for transplantation. This discovery is significant because hematopoietic failure due to HSPC loss is a major cause of health problems and death in FA patients. The adapted protocol for this research is available upon request by contacting Dr. Cantor or Dr. Kurre via email. Sharon.Cantor@umassmed.edu and KURREP@chop.edu. 

Acetaldehyde Exposure and DNA Damage in the Oral Cavity of FA Patients Before and After the Consumption of a Low Alcohol Dose
Investigator: Silvia Balbo, PhD 
Institution: University of Minnesota
Funded in 2021

Dr. Balbo’s study initially aimed to see how one alcoholic drink affects DNA in the mouth of people with Fanconi anemia (FA) compared to those without FA. Due to recruitment challenged, the study shifted to examining DNA damage at baseline by collecting mouthwash samples and oral swabs from people with FA. The team collected oral cell DNA from five people with FA and analyzed these samples. They found certain DNA changes (called adducts) that appeared only in the FA samples and some that were more frequent in FA compared to controls. This research is important for people with FA because understanding harmful exposures can help them make healthier lifestyle choices.

Updates From Ongoing Projects

National Institutes of Health (NIH) Center Comprehensive Program for Natural History of Development of Squamous Cell Carcinoma in Fanconi Anemia
Neelam Giri, MD, and Sharon Savage, MD
National Institutes of Health
Funded in 2022

Dr. Giri and Dr. Savage’s study aims to establish a central facility for comprehensive screening of individuals with FA, tracking cancer development through detailed evaluations and biospecimen collection. With more than 70 enrolled participants, the study collaborates with other FA investigators to uncover genetic and immunological mechanisms underlying cancer susceptibility in FA, ultimately aiding in early detection and treatment strategies for this high-risk population. Dr. Giri and Dr. Savage’s team has also developed an additional collaboration with the Fanconi Associated Neurological Syndrome (FANS) researchers at the NIH to provide comprehensive care to individuals with FANS who are participants in the FA cancer screening study.

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

Dr. Guillaud and Dr. Laronde’s main goal is to create, test, and use a semi-automatic system that analyzes DNA from cell samples to check for abnormal chromosomes (aneuploidy) in people with FA who have oral cancer. Dr. Guillaud, Dr. Laronde, and their team have processed, stained, imaged, and analyzed 155 oral brush biopsy specimens and are collaborating with the NIH to review these samples. Dr. Guillaud and Dr. Laronde hope that identifying lesions in individuals with FA early, who have a high risk of developing cancer, will allow for earlier interventions and treatments, which will lead to improved survival outcomes among individuals with FA.

Oral Mucosal Gene Therapy as a Prevention for FA-Associated Cancers
Markus Grompe, MD, and Ray Monnat, MD
Oregon Health and Science University and University of Washington
Funded in 2022

Dr. Grompe and Dr. Monnat are developing advanced imaging techniques for studying mouth tissue in mice, improve methods for delivering genes into the mouth of mice with FA, and investigate whether fixing FA-related gene defects in mouth cells provides an advantage. They found that a certain type of genetic material can effectively enter mouth cells and that a specific gene plays a role in the development of mouth cancer in mice with FA. Their work could lead to better ways of detecting early mouth cancers in both mice and humans with FA, and might eventually open the door for gene therapy trials to treat FA-related mouth problems.

Building Collaborative Partnerships to Understand Fanconi Anemia Tumor Pathogenesis, Prevention, and Treatment
Agata Smogorzewska, MD, PhD
The Rockefeller University
Funded in 2022

Dr. Smogorzewska’s study aims to unite stakeholders in the FA cancer consortium, expand clinical partnerships, establish a data-sharing platform, and create patient-derived models for research. They’ve identified a potential marker for pre-malignant oral lesions in FA individuals and are working to validate it further. Collaborating with various institutions, their research seeks to improve treatments for FA by involving patients, families, physicians, and researchers.

Development of In Utero Therapies for Fanconi Anemia
Investigator: Agnieszka Czechowicz, MD, PhD 
Institution: Stanford University
Funded in 2023

The goal of Dr. Czechowicz’s project is to develop the first in utero therapy for FA. Dr. Czechowicz and her team have successfully performed in utero hematopoietic stem cell transplantation (IUHSCT) in their mouse model. The mouse model that Dr. Czechowicz’s team developed has been able to engraft the donor cells more strongly compared to other heterozygous and wild type mice that also received IUHSCT. This study is significant for individuals with FA because IUHSCT may be a safe and curative prenatal treatment for the hematopoietic component of FA, which would prevent individuals with FA from developing bone marrow failure before they are born. If individuals with FA do not develop bone marrow failure, then they will not need to receive any toxic therapies to treat their bone marrow failure.

AFAN Trial: Phase Ib/II Study to Investigate the Safety and Efficacy of Afatinib When Administered as Therapy in Fanconi Anemia Patients with Unresectable and/or Metastatic Locoregionally Advanced Squamous Cell Carcinoma of the Oral Cavity, Oropharynx, Hypopharynx, or Larynx
Investigator: Ramon Garcia-Escudero, PhD and Jordi Surrallés, PhD
Institution: Institut de Recerca de l’Hospital de Sant Pau
Funded in 2023

The goal of Dr. Garcia-Escudero and Dr. Surrallés’ clinical trial is to examine the efficacy and safety of the drug Afatinib after it is administered to individuals with FA who have metastatic advanced squamous cell carcinoma (SCC) of the oral cavity region. Dr. Garcia-Escudero and Dr. Surrallés have created the final protocol for this clinical trial and have signed the agreement between the Afatinib manufacturer, Boehringer Ingelheim, to package and distribute Afatinib to the trial recruiting centers in Spain and Germany. This clinical trial is significant for individuals with FA because the first drugs could be developed to specifically treat FA head and neck squamous cell carcinoma (HNSCC), which would allow for individuals with FA to be treated for HNSCC without toxic medications and ultimately improve their quality of life. 

Fanconi Anemia Antibody Project and Fanconi Anemia Research Materials Program
Investigators: Markus Grompe, MD and Leslie Wakefield 
Institution: Oregon Health and Science University
Funded in 2023

The goal of the Fanconi Anemia Research Materials (FARM) program is to maintain and distribute established Fanconi-related cell lines and antibodies to the FA research community. In 2023, Dr. Grompe and Ms. Wakefield distributed approximately 50 FA cell lines, HNSCC cell lines, and antibodies to FA researchers who have requested materials as part of this program. They have continued to improve the FARM’s website and datasheets and recently added animal models to the FARM’s offerings. The FARM will help individuals with FA by making FA materials available to researchers around the world, which will help researchers to pursue better treatments for FA and FA-associated cancers. 

Reducing the Burden of SCC in FA/Health Literacy Initiative: Cancer Awareness Team
Investigators: Christine Krieg and Eunike Velleuer-Carlberg, MD 
Institutions: Heinrich-Heine-University and German Fanconi Anemia Family Support Group and Research Fund
Funded in 2023

The goal of the Cancer Awareness Team’s work is to advance and improve cancer prevention, detection, and treatment for individuals with FA and to provide education and resources that allow individuals with FA to make informed decisions about their health. Dr. Velleuer-Carlberg and Ms. Krieg have developed oral care educational programs for individuals with FA and medical professionals, translated existing oral screening teaching materials, partnered with individuals with FA to improve their clinical care trajectory, and facilitated international partnerships for the development of the Fanconi Research Initiative for Education, Networking, and Data Sharing (FRIENDS). The Cancer Awareness Team’s work will help individuals with FA by empowering them to perform regular oral mouth self-examinations and engage in general cancer screenings. 

Fanconi Anemia Cancer Cell Line Resource Project
Investigator: Raymond Monnat, MD
Institution: University of Washington
Funded in 2018

Dr. Monnat’s grant aims to create pairs of head and neck squamous cell carcinoma (HNSCC) cell lines, one set with Fanconi anemia (FA) and one set without, for comparison. These cell lines have been successfully developed and documented in a manuscript submitted to Cancer Research, which can be viewed here. The remaining grant funds are being used to expand and ship these cell line stocks to the FARM at Oregon Health and Science University and to maintain the original stocks and their derivatives. This will help ensure the availability of these cell lines for further research.

Modeling Environmental Responses of Fanconi Anemia Epithelial Stem and Progenitor Cells to Prevent Squamous Cell Carcinoma
Investigators: Hiroshi Nakagawa, MD, PhD and Kenneth Weinberg, MD
Institutions: Columbia University and Stanford University
Funded in 2022

Dr. Nakagawa and Dr. Weinberg’s grant aims to understand how FA epithelial stem and progenitor cells develop into squamous cell carcinomas (SCCs) using mouse models and lab-grown organoid models. They have confirmed abnormal cell development in their mouse model and performed single-cell RNA sequencing on the mouse’s esophageal tissue. They identified two unique cell groups: one containing FA-SCC stem cells and another containing FA-SCC epithelial cells found in mice showing early signs of cancer. This research is important for the FA community because it provides new models to develop preventive cancer treatments, which were previously unavailable. Early results suggest that delaying cancer in people with FA is possible, paving the way for new drug therapies to prevent FA-SCC.

Development and Characterization of FA-HNSCC PDX Models
Jennifer R. Grandis, MD and Daniel E. Johnson, PhD
University of California, San Francisco
Funded in 2022

Dr. Grandis and Dr. Johnson’s study aims to create and study lab models (called PDX models) of head and neck cancer in people with Fanconi anemia (FA). They compare the genetic makeup of these models with the original tumors and test how they respond to cancer treatments. So far, they have created three PDX models and shared them with other researchers. One of these models has shown a rare ability to spread (metastasize). This research is important because it provides the first PDX lab models of FA-related head and neck cancer, helping to find better treatments.

Updates on Other Research Initiatives

Data Commons Initiative (aka FRIENDS)

The FRIENDS initiative, the Fanconi Research Initiative for Education, Networking, and Data Sharing, has launched to foster collaboration in the FA community, highlighted by recent meetings to establish a data commons. Together with our partners Data for the Common Good, these efforts aim to pool global expertise and data to address various scientific priorities, including:

• Cancer
• Fertility
• Bone marrow failure
• Psychosocial research
• Breakage analysis and diagnosis
• Environmental exposures
• Developmental abnormalities
• Family history
• Demographics
• Community engagement
• Genetics
• Dietary history
• Fanconi Associated Neurological Syndrome (FANS)

On September 22, 2024, a Memorandum of Understanding (MOU) ceremonial signing party took place at the annual FCF Scientific Symposium and Adult Retreat in Charlotte, North Carolina. Twenty-nine individuals representing 13 countries gathered to sign the first page of the MOU as a ceremonial celebration of the work to-date and to discuss next steps.

Since the Scientific Symposium and Adult Retreat, FCF and Data for the Common Good have been working on the following tasks:

• Have been holding discussions with the NIH and the Rockefeller University regarding a pilot for FRIENDS data linkage
• Begun populating the FRIENDS Executive Committee, 
• Held data dictionary working group meetings for the cancer genomics and genetics working groups, and

If you are interested in participating in the data dictionary working groups, please email us.

Scientists, families, patients, and advocates are encouraged to contribute to this collaborative effort by us at info@fanconi.org

2024 Scientific Symposium

If you are interested in learning more about this year’s Scientific Symposium, you can read the following articles on FCF’s website:

• Recap of the 36th Annual Fanconi Anemia Scientific Symposium and Adult Retreat 
• FA Adult Retreat and Scientific Symposium: A Homecoming for Patients, Families and Researchers

Fanconi Anemia Neurological Syndrome (FANS)

The FANS board convened for the first time on March 8th, where Dr. Prashanth Ramachandran shared updates on his ongoing research supported by an FCF grant. Collaborating with Dr. MoY Fiesco-Roa and Dr. Eunike Velleuer-Carlberg, Dr. Ramachandran’s team has recruited six individuals with FANS and is developing a database to consolidate data from FANS cases worldwide, with the aim of integrating it into the FRIENDS initiative.

Charting a Path Forward for FA Cancer Prevention Trials

On Friday, April 12, more than 60 participants, including those with FA, researchers, clinicians, and family members, participated in a virtual meeting focused on planning FA cancer prevention clinical trials. The goal was to review existing data and agree on the next steps for launching a collaborative chemoprevention trial across multiple institutions.

The post 2024 Research Updates appeared first on Fanconi Cancer Foundation.

World-Renown Experts Take On the Root of the Problem

The long-awaited genetic revolution for rare genetic diseases has arrived and with it, the potential to cure diseases like FA within our lifetimes using state-of-the-art gene therapy (gene replacement) and gene editing (gene correction). 

Addressing the root cause of FA will require correction of each one of the 23 genes that may be mutated in individuals with FA. The replacement, or therapy of FA genes, aims to prevent bone marrow failure early in life and reduce the high risk of squamous cell cancers seen in young adults with FA. 

While significant progress has improved bone marrow transplants, the treatment can increase the risk of cancer due to the use of DNA damaging agents during transplant. 

Gene therapy and gene editing would bypass the need for a transplant because an individual’s own stem cells would express the dysfunctional genes. Ongoing gene therapy trials for FA have shown great promise in replacing FA genes to correct hematopoietic stem cells and prevent bone marrow failure. These technologies, however, can be costly and introduce complications due to the nature of removing cells from the body to replace the FA genes. 

This is why the Fanconi Cancer Foundation is proud to develop and fund a ‘Dream Team’ that will advance in vivo (inside the body) gene editing technologies for FA. 

The Dream Team, recruited by FCF in 2023, is comprised of seven world-renowned gene editing experts, and an industry partner, Nanovation Therapeutics. The researchers will work together to investigate new types of gene editing, called base and prime editing, which offer the opportunity to safely correct mutations in all 23 FA genes. The team is expected to leverage their expertise and rapidly translate preclinical research into clinical trials. This represents the beginning of a very promising genetic revolution that will pave the way for a potential cure for FA. 

Thank you to the Kendall and Taylor Atkinson Foundation for the generous contribution to help fund this project. 

The post The Genetic Revolution for Fanconi Anemia Begins Now  appeared first on Fanconi Cancer Foundation.