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Champions of Change: Women Leading the Way in Rare Disease Research
Champions of Change: Women Leading the Way in Rare Disease Research
“Women in NF” is a new series of essays submitted by women who have helped shape the landscape of NF understanding and treatment. More than just a collection of narratives, “Women in NF” is a testament to women’s indispensable role in the effort to end NF. Spearheaded by Drs. Meena Upadhyaya (Medical Geneticist, Cardiff University) and Margaret (Peggy) Wallace (Professor, University of Florida), this first set of contributions provides history and underscores the pioneering role of women in biomedical research and patient care. These essays inspire and educate, igniting a new era of awareness and appreciation for the vital role of women in shaping the future of scientific research and medical treatments.
Rosalie Ferner, MD FRCP, from the Neurofibromatosis Centre, Department of Neurology, Guy’s and St. Thomas’ NHS Foundation Trust in London, shared her trailblazing experiences:
“Our hospital started using magnetic resonance imaging (MRI) as an imaging modality in 1988, and I undertook 33 brain MRIs as part of my study. I did not find an association between cognitive impairment and the presence of focal areas of signal intensity (FASI) in the basal ganglia, cerebellum, and brainstem. These changes were known at that time as unidentified bright objects (UBOs) and are generally thought to be due to aberrant myelination. I recall presenting my early findings at a regional neurology meeting attended by about 50 male neurologists and one other female neurologist.
A senior male colleague stood up to congratulate me and said he was impressed that 'as a woman,' I had undertaken and discussed MRI studies at an academic meeting!”
Dr. Ferner received the 2024 Friedrich von Recklinghausen Award, which is given out annually to individuals in the professional NF community who have made significant contributions to neurofibromatosis or schwannomatosis research or clinical care. These reflections underscore
the broader narrative of “Women in NF,” emphasizing the perseverance and resilience women bring to excelling in their fields so that treatments are developed to improve the lives of all patients. Visit ctf.org/womeninnf to read more about the inspiring journeys, triumphs, and challenges of these trailblazing heroes of science.
WHAT IS NF?
Neurofibromatosis and schwannomatosis (collectively known as NF) affect one in 2,000 people, impacting over four million individuals worldwide. These genetic conditions cause tumors to grow on nerves throughout the body, leading to blindness, deafness, bone abnormalities, disfigurement, learning disabilities, pain, and cancer. NF affects people of all populations equally. Our commitment to research and care is improving the lives of those with NF and advancing the fight against other rare diseases.
WHO IS THE CHILDREN’S TUMOR FOUNDATION?
The Children’s Tumor Foundation is the leader in driving innovative research and advancing treatments for all forms of NF (neurofibromatosis and schwannomatosis). Our unique combination of advanced science with exceptional care is what sets us apart. With patients at the heart of everything we do, we collaborate with top scientists, pharmaceutical companies, and leading medical institutions to accelerate the discovery and development of effective therapies. Our breakthroughs bring meaningful outcomes to those with NF and pave the way for advancements in other disease areas.
Learn more at ctf.org
