FARF Holds First Focus Meeting on Fanconi Anemia Neurological Syndrome

Because Fanconi anemia (FA) is a DNA repair disorder, the disease can manifest in many ways (bone marrow failure and cancer are among the top ones). There are also other manifestations of the disease that researchers don’t yet fully understand. One of those is known as Fanconi Anemia Neurological Syndrome (or FANS), a term coined to describe central nervous system abnormalities that affect a subset of patients with FA. FANS results in brain lesions that can lead to weakness, seizures, and cognitive issues, but the cause is currently unknown.

In late 2021, the Fanconi Anemia Research Fund (FARF) held a focused workshop with physician scientists, researchers, individuals with FA affected by FANS, and their families. The goal of the meeting was to bring together those working on this issue and those living with it to develop a better understanding and map out what needs to happen to develop treatment options.

Parents Lorraine and Kevin McQueen started the meeting by sharing about their son Sean’s experiences with FANS and inspired researchers to reach consensus on a path forward for research and new therapies. Doctors from University of Düsseldorf, University of California San Francisco (UCSF), and Cincinnati Children’s Hospital Medical Center provided general clinical overviews and hypotheses on the causes of FANS based on their experience with treating patients. Subsequent talks on FANS by specialists in pathology, radiology, and ophthalmology from the National Institutes of Health and UCSF focused on abnormalities in the central nervous system and eyes that are common in FANS.

Dr. Jonathan Miner from the Penn Institute for Immunology provided perspective on FANS through the lens of a similar rare disease called retinal vasculopathy with cerebral leukoencephalopathy (RVCL) that shares similar neurological and central nervous system symptoms. Patients with RVCL exhibit mutations in the TREX1 gene, which is involved in DNA repair. Like FANS, there is limited understanding of RVCL disease etiology and there are limited treatment options.

The FARF staff is now working on an addition to the FA Clinical Care Guidelines to address FANS and developing a clinical review board for individual cases. In early 2022, FARF funded a new research project to examine the immune profiles of individuals with FA who have been diagnosed with FANS to find the underlying cause and an appropriate therapy to treat this condition. More on this grant will be shared soon.

It’s because of driven families, dedicated doctors and staff, and generous donors that we’re able to work on this issue. FA is complex and it’s our mission to understand more, advance research and find better treatments for all affected. Thank you for your support.

Special thanks to speakers who attended the FANS meeting:

Kevin and Lorraine McQueen
Eunike Velleuer, University of Düsseldorf
Michael Wilson, University of California San Francisco
Prashanth Ramachandran, University of California San Francisco
Stella Davies, Cincinnati Children’s Hospital Medical Center
Eduardo Caverzasi, University of California San Francisco
Nailyn Rasool, University of California San Francisco
Jonathan Miner, Penn Institute for Immunology

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