Fanconi Hope was well represented at the 2024 Fanconi Cancer Foundation Scientific Symposium in Charlotte North Carolina, 26th – 29th September.
Beth Lee, our Registry Liaison and Research Coordinator and Dr Riya Tharakan, a Clinical Research Fellow also working on the Registry, were invited to the event to present their poster on the results of the UK FA Registry so far.
Joseph Hallett was also invited to present his poster on progress with his 4 year PhD project on Proton Therapy research.
We very pleased to sponsor Dr Stefan Meyer at the event, Joseph’s supervisor, the lead on the UK FA Registry, and a paediatric oncologist with one of the largest cohorts of FA patients in the UK.
We were also delighted to part-sponsor Dr Ramsay Bowden at the event – assistant professor in medical genetics at the University of Cambridge and an honorary consultant in the East Anglian Medical Genetics Service.
In addition to the Scientific Symposium itself a number of side events were held, with Fanconi Hope being represented at all of them; An International FA Support Group Summit Meeting, an International Psychosocial Collaboration Meeting, a Data Commons Memorandum of Understanding signing event, a Rocket Pharmaceuticals reception, an FA Europe Network Meeting and the FA Adults Retreat – represented by Louise Dalgleish (an FCF FA Adult Council Representative) and Beth Lee.
Here is a summary of the content of the Scientific Symposium itself:-
The 2024 Fanconi Anaemia Scientific Symposium, held in Charlotte, North Carolina from September 19-21, 2024, brought together researchers, clinicians, and individuals affected by Fanconi Anaemia (FA) to discuss the latest advancements in understanding and treating this rare genetic disorder. The symposium covered several key themes and topics:
FA Overview and Manifestations
The symposium began with an overview of FA, followed by presentations on various aspects of the disease, including:
- Aldehyde-DNA damage and accelerated aging in FA hematopoietic stem cells
- Skin fragility in FA patients
- Mitochondrial metabolism defects
- Reproductive challenges and fertility preservation
- Neurological manifestations of FA
Cancer Susceptibility and Prevention
A significant portion of the symposium focused on cancer susceptibility in FA patients, particularly:
- Novel precision prevention strategies for oral malignancies
- Early detection of cancer through comprehensive screening
- Molecular biomarkers in FA mucosa
- Immune system architecture in FA tumours
- Potential chemoprevention strategies, including quercetin for squamous cell carcinoma
DNA Repair Mechanisms
The symposium delved into the complex world of DNA repair in FA, exploring:
- Pathological activation of the FA pathway
- New subtypes of FA, such as FA-Y
- Interactions between FA proteins and other DNA repair pathways
- Synthetic lethality approaches for potential treatments
Gene Therapy and Genome Editing
Cutting-edge research on gene therapy and genome editing for FA was presented, including:
- Lentiviral vector-mediated gene transfer
- In vivo gene therapy approaches
- CRISPR-Cas9 genome editing challenges and advancements
- Prime editing technologies for FA correction
Psychosocial Aspects
The symposium also addressed the psychosocial experiences of adults living with FA, highlighting:
- Management of medical uncertainty and screening-related anxiety
- Long-term psychosocial impacts on the first generation of FA adults
The important messages to be drawn from the Symposium were:
- FA research is progressing rapidly, with new insights into disease mechanisms and potential therapeutic approaches.
- Cancer prevention and early detection remain critical focus areas for improving FA patient outcomes.
- Gene therapy and genome editing show promise as potential curative treatments for FA.
- Addressing the psychosocial needs of FA patients is essential for comprehensive care.
- Collaboration between researchers, clinicians, and patients is crucial for advancing FA research and treatment.
