Prof. Dr. Rose-Mary Boustany | Neurodegeneration | Best Researcher Award

Director at American Univercity of Beirut, Lebanon

Prof. Dr. Rose-Mary Boustany is a tenured Professor of Pediatrics, Adolescent Medicine, Biochemistry, and Molecular Genetics at the American University of Beirut Medical Center (AUBMC), where she also serves as Director of the Neurogenetics Program and Chief of Pediatric Neurology. She has held prestigious academic and leadership roles at both AUBMC and Duke University, including Chairperson of the Abu Haidar Neuroscience Institute and Acting Chair of Psychiatry. Renowned for her pioneering work in pediatric neurogenetics, she leads the Special Kids Clinic and has contributed over four decades of clinical, academic, and translational research excellence. With continuous research funding since 1987 and more than $10 million in support, Prof. Boustany’s discoveries in Batten disease, CLN gene therapy, and neurodegeneration have positioned her as a global leader in the field. She holds multiple patents and has mentored numerous future scientists and clinicians worldwide. 🌍🧠📚

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Education

Dr. Boustany received her early education at the German School and International College in Beirut, graduating with honors in scientific baccalaureate. She completed her B.S. in 1975 and earned her M.D. from the American University of Beirut in 1979. Her postgraduate medical training began at AUBMC in Pediatrics and continued at Harvard Medical School and Massachusetts General Hospital, where she completed residencies in Neurology and Pediatric Neurology and a fellowship in Neurogenetics and Neurochemistry at the Shriver Center. Dr. Boustany obtained board certifications from the American Board of Medical Genetics and the American Board of Psychiatry and Neurology (with special competence in Child Neurology), and subspecialty credentials from the Lebanese Order of Physicians. Her academic trajectory has been marked by rigorous clinical and scientific training, enabling her to bridge molecular biology with neurology in both patient care and research. 🎓🧬🧠

Work Experience

Dr. Boustany began her academic career at Harvard and MGH as Instructor and later Assistant Professor of Neurology. She joined Duke University Medical Center in 1988, where she rose through the ranks to become a Tenured Professor of Pediatrics, Neurobiology, and Medicine by 2003. She has served as a Visiting Scholar at UNC Chapel Hill and held several adjunct appointments in Pediatrics through Duke. Since 2005, she has held senior leadership roles at AUBMC, including Chairperson of the Abu-Haidar Neuroscience Institute and Acting Chair of Psychiatry. She is currently Director of the Neurogenetics Program, Chief of Pediatric Neurology, and Director of the Special Kids Clinic. Her career is a fusion of academic leadership, clinical excellence, and bench-to-bedside research, making her one of the most influential figures in pediatric neurogenetics in the Middle East and globally. 🏥📖🧑‍⚕️

🏅 Awards and Honors

Dr. Boustany’s distinguished career has earned her numerous honors, including the AUB Board of Trustees Designated Professorship in 2022. She is the recipient of continuous research support since 1987, totaling over $10.7 million in grants, including from NIH, the Lebanese Research Council, Dubai Harvard Foundation, and private foundations. She holds multiple patents for innovations in treatment of Batten disease, CLN gene-related disorders, and neuroprotection. Her discoveries have led to licensed technologies with major pharmaceutical companies. Among her accolades are major NIH grants (e.g., RO1), high-impact publications, and groundbreaking work on the role of ceramide signaling and subunit-9 in neurodegeneration. Dr. Boustany is also recognized as a trailblazer for women in science and medicine in Lebanon and the region, having trained generations of neurologists, geneticists, and pediatricians. 🏆🔬📜

Research Focus

Dr. Boustany’s research focuses on pediatric neurogenetics, with an emphasis on neurodegenerative lysosomal storage disorders, especially neuronal ceroid lipofuscinoses (NCL or Batten disease). Her team was among the first to identify the role of subunit-9 of ATP synthase in neurodegeneration, and she has since worked extensively on CLN3, CLN8, and CLN9 genes, aiming to develop gene and small molecule therapies. Her work bridges molecular pathways, clinical phenotypes, and therapeutic strategies—including flupirtine and GalCer—targeting apoptosis and inflammation. Dr. Boustany also explores autism genetics, breast cancer biomarkers, and biomaterials for neuroprotection. She holds patents on gene-based treatments, FRET biosensors, and novel pyridine carbamate derivatives. Her translational research is supported by major grants and pharmaceutical partnerships. Her overarching aim is to develop effective diagnostic and therapeutic tools for children with rare and complex neurological diseases. 🧬🧠💊

Conclusion

Dr. Rose-Mary Boustany exemplifies the ideal recipient of the Research for Best Researcher Award. Her exceptional and sustained impact in neurogenetics, deep academic and clinical integration, leadership in translational science, and rich legacy of mentorship stand as a model of excellence in biomedical research. Her career reflects a rare blend of scholarly depth, clinical innovation, and societal impact—making her a compelling and worthy awardee. With slight advancements in global outreach and digital research presence, she could further solidify her influence as a global thought leader in neuroscience and rare disease research.

Publications to Noted

Title: Expanded Phenotype of the Cln6nclf Mouse Model
Authors: Victoria Chaoul, Sara Saab, Omar Shmoury, Jihane Soueid, Rose Mary Naaman Boustany
Citations: 0
Year: 2025

Title: Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder
Authors: Lettie E. Rawlins, Reza Maroofian, Stuart J. Cannon, Emma L. Baple, Andrew H. Crosby
Citations: 0
Year: 2025

Title: High Diagnostic Yield and Clinical Utility of Next-Generation Sequencing in Children with Epilepsy and Neurodevelopmental Delays: A Retrospective Study
Authors: Daniel Charouf, Derryl J. Miller, Laith Haddad, Rose Mary Naaman Boustany, Makram M. Obeid
Citations: 3
Year: 2024

Title: Cerliponase alfa and neuronal ceroid lipofuscinosis type 2: long-term outcomes and lessons for future research
Author: Rose Mary Naaman Boustany
Citations: 3
Year: 2023

Title: A novel autism-associated UBLCP1 mutation impacts proteasome regulation/activity
Authors: Jihane Soueid, Zeinab Hamze, Joe Bedran, Maria H. Chahrour, Rose Mary Naaman Boustany
Citations: 4
Year: 2023

Title: Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
Authors: Alan P. Tenney, Silvio Alessandro Di Gioia, Bryn D. Webb, Irini Manoli, Elizabeth C. Engle
Citations: 14
Year: 2023

Title: Whole-exome screening for primary congenital glaucoma in Lebanon
Authors: Nadine J. Makhoul, Zahi Wehbi, Dalia El Hadi, Rose Mary Naaman Boustany, Christiane Elias Al-Haddad
Citations: 3
Year: 2023

Title: Amblyopia risk factors among pediatric patients in a hospital-based setting using photoscreening
Authors: Christiane Elias Al-Haddad, Zeinab El Moussawi, Stephanie Hoyeck, Mona Hnaini, Rose Mary Naaman Boustany
Citations: 4
Year: 2021

Title: A signature of four circulating microRNAs as potential biomarkers for diagnosing early-stage breast cancer
Authors: Maha M. Itani, Farah J. Nassar, Arafat H. Tfayli, Nathalie Khoueiry-Zgheib, Rihab R. Nasr
Citations: 46
Year: 2021

Title: LINE-1 methylation mediates the inverse association between body mass index and breast cancer risk: A pilot study in the Lebanese population
Authors: Zainab Awada, Liacine Bouaoun, Rihab R. Nasr, Nathalie Khoueiry-Zgheib, Akram Ghantous
Citations: 5
Year: 2021

Rose-Mary Boustany | Neurodegeneration | Best Researcher Award

Prof. Dr. Rose-Mary Boustany | Neurodegeneration | Best Researcher Award

professional profile

Education

Work Experience

🏅 Awards and Honors

Research Focus

Conclusion

Publications to Noted

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Prof. Dr. Rose-Mary Boustany | Neurodegeneration | Best Researcher Award

professional profile

Education

Work Experience

🏅 Awards and Honors

Research Focus

Conclusion

Publications to Noted

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