Cara O’Neill, MD, FAAP

Chief Science Officer, Cure Sanfilippo Foundation

Page last updated:  May 20, 2022
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Cara O’Neill’s Educational and Professional History

Cara O’Neill completed her medical education at West Virginia University School of Medicine and subsequently her Pediatric Residency training at the University of South Carolina. She has worked both in private practice and academic settings. During her tenure as an Assistant Professor of Clinical Pediatrics at the University of South Carolina, she helped train medical students and residents and practiced in a clinic specific to children with special healthcare needs. These uniquely-paired career and life experiences allow her to bridge gaps between scientists, clinicians, industry, and families, helping foster patient-centered research and translational paths forward for rare disease treatments.

She and her husband Glenn founded Cure Sanfilippo Foundation after receiving her daughter Eliza’s diagnosis in 2013. Since then, they have spread awareness around the globe about Sanfilippo syndrome via talk shows, news media, online platforms, and international newspapers. As Chief Science Officer, Dr. O’Neill leads the Foundation’s patient-focused research efforts and has presented at international conferences and authored peer-reviewed journal articles. In addition, she collaborates with other non-profit groups on mutual advocacy and research interests, as well as oversees the foundation’s funding of external scientific programs.

Dr. O’Neill was awarded the international 2020 Patient Advocacy Leader Award by WORLDSymposium for her exceptional thought leadership and contributions. For their work rare disease, Glenn and Cara were awarded the Portraits of Courage Honor by NORD in 2015, as well as being a Tribute to Champions of Hope finalist for Global Genes. In 2017, they received the South Carolina Child Advocate Award from the SC American Academy of Pediatrics.

Cara O’Neill’s Scientific Publications

• Lanar, Sally & Parker, Samantha & O’Neill, Cara & Marrel, Alexia & Arnould, Benoit & Héron, Bénédicte & Muschol, Nicole & Wijburg, Frits & Chakrapani, Anupam & Olivier, Sophie & Aiach, Karen. (2022). Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach. Orphanet Journal of Rare Diseases. 17. 10.1186/s13023-022-02208-w.
• Ackerman Porter, Katherine & O’Neill, Cara & Drake, Elise & Andrews, Sara & Delaney, Kathleen & Parker, Samantha & Escolar, Maria & Montgomery, Stacey & Moon, William & Worrall, Carolyn & Peay, Holly. (2022). Caregivers’ assessment of meaningful and relevant clinical outcome assessments for Sanfilippo syndrome. Journal of Patient-Reported Outcomes. 6. 40. 10.1186/s41687-022-00447-w.
• Wijburg, Frits & Aiach, Karen & Chakrapani, Anupam & Eisengart, Julie & Giugliani, Roberto & Héron, Bénédicte & Muschol, Nicole & O’Neill, Cara & Olivier, Sophie & Parker, Samantha. (2021). An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA. Molecular Genetics and Metabolism. 135. 10.1016/j.ymgme.2021.12.002.
• Eisengart, Julie & Esler, Amy & Ellinwood, N. & Hudock, Rebekah & King, Kelly & Klein, Terri & Lee, Chimei & Morton, Jonathan & Stephens, Kim & Ziegler, Richard & O’Neill, Cara. (2021). Issues of COVID-19-related distance learning for children with neuronopathic mucopolysaccharidoses. Molecular Genetics and Metabolism. 134. 10.1016/j.ymgme.2021.06.012.
• Polgreen, Lynda & Chen, Agnes & O’Neill, Cara & Luzzi, Anna & Iacovino, Michelina & Eisengart, Julie. (2021). Open-label clinical trial of anakinra in mucopolysaccharidosis type III: Interim analysis. Molecular Genetics and Metabolism. 132. S87-S88. 10.1016/j.ymgme.2020.12.209.
• Ackerman Porter, Katherine & O’Neill, Cara & Drake, Elise & Parker, Samantha & Escolar, Maria & Montgomery, Stacey & Moon, William & Worrall, Carolyn & Peay, Holly. (2020). Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment. Neurology and Therapy. 10. 10.1007/s40120-020-00226-z.
• Peay, H. & Ackerman Porter, Katherine & Drake, E. & O’Neill, C.. (2020). PRO87 PERCEPTIONS OF PARENTS OF CHILDREN WITH SANFILIPPO SYNDROME: MEANINGFULNESS OF CLINICIAL AND PARENT-REPORTED OUTCOME MEASURES FOR USE IN CLINICAL TRIALS. Value in Health. 23. S344. 10.1016/j.jval.2020.04.1308.
• O’Neill, Cara & Mansfield, Carol & Drake, Elise & Coulter, Joshua & Peay, Holly. (2020). Parent prioritization of meaningful treatment targets for Sanfilippo syndrome. Molecular Genetics and Metabolism. 129. S121. 10.1016/j.ymgme.2019.11.315.
• O’Neill, Cara & Parker, Samantha & Contesse, Marielle & Leffler, Mindy & Davies, Elin. (2020). PROVIDE: Video-based patient-reported outcomes for Sanfilippo syndrome: A new and innovative approach to record and measure disease post-gene therapy. Molecular Genetics and Metabolism. 129. S121-S122. 10.1016/j.ymgme.2019.11.316.
• Escolar, Maria & Bradshaw, Jessica & Byers, Valerie & Giugliani, Roberto & Golightly, Lynn & Lourenco, Charles & McDonald, Kimberly & Muschol, Nicole & Newsom-Davis, Imogen & O’Neill, Cara & Peay, Holly & Siedman, Jennifer & Solano, Martha & Wirt, Tessa & Wood, Tim & Zwaigenbaum, Lonnie. (2020). Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III. Journal of Inborn Errors of Metabolism and Screening. 8. 10.1590/2326-4594-jiems-2020-0002.
• Giulianna Baldini, & Fernando Palmejiani, José & Bonevechio Sant’Anna, João & Aparecida Carneiro, Zumira & Giugliani, Roberto & Catarina Pereira, & Cozma, Claudia & Cara O’Neill, & Lourenco, Charles. (2020). Sanfilippo Syndrome: The Tale of a Challenging Diagnosis. Journal of Inborn Errors of Metabolism and Screening. 8. 10.1590/2326-4594-jiems-2020-0005.
• Shapiro, Elsa & Lourenco, Charles & Mungan, Neslihan & Muschol, Nicole & O’Neill, Cara & Vijayaraghavan, Suresh. (2019). Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data. Orphanet Journal of Rare Diseases. 14. 10.1186/s13023-019-1150-1.
• O’Neill, Cara & Ackerman Porter, Katherine & Drake, Elise & Peay, Holly. (2019). Meaningful treatment outcomes for Sanfilippo syndrome: A study of caregiver preferences and prioritization. Molecular Genetics and Metabolism. 126. S112-S113. 10.1016/j.ymgme.2018.12.285.
• O’Neill, Cara & Fleischer, Nicole & Wood, Jill. (2019). The natural history of facial features observed in Sanfilippo syndrome (MPS IIIB) using a next generation phenotyping tool. Molecular Genetics and Metabolism. 126. S112. 10.1016/j.ymgme.2018.12.284.
• O’Neill, Cara & Fleischer, Nicole & Wood, Jill. (2018). Patient advocacy groups and industry collaborate to establish a distinct Sanfilippo syndrome (MPS III) facial phenotype for use in visual diagnostic tool. Molecular Genetics and Metabolism. 123. S110-S111. 10.1016/j.ymgme.2017.12.294.

Contact Cara O’Neill

By mail: PO Box 6901, Columbia, SC 29260

By e-mail: Contact@CureSanfilippoFoundation.org