Science And Research Director at KAT6 Foundation, United States
Dr. Natacha Esber is a board-certified Internal Medicine physician with extensive clinical, academic, and research experience across the United States. With a career spanning over two decades, she has served in key roles in federal healthcare services, academia, and nonprofit scientific leadership. As Co-Founder and Science and Research Director of the KAT6 Foundation, Dr. Esber is an internationally recognized advocate and researcher in the field of rare genetic disorders, particularly KAT6A/KAT6B syndromes. She currently holds appointments with the Veterans Health Administration and ICE Health Service Corps and serves as an Adjunct Clinical Assistant Professor at Touro College of Osteopathic Medicine.
🔹Professional Profile:
Scopus Profile
🎓Education Background
- Doctor of Medicine (MD) – Saint Joseph University, Beirut, Lebanon (1997–2004)
- Internal Medicine/Infectious Diseases Residency – Saint Joseph University, Lebanon (2004–2007)
- Internal Medicine Residency (PGY1) – University of Kansas School of Medicine, Wichita, KS (2008–2009)
- Internal Medicine Residency (PGY2–3) – Memorial Hospital of Rhode Island, Brown University (2009–2011)
💼 Professional Development
Dr. Esber has served as an Internal Medicine Physician and Clinical Director for multiple federal contractors, including STG International, InGenesis, and SI2, providing care across ICE Health Service Corps and Veterans Health Administration centers in New York and New Jersey. Since 2017, she has led research for the KAT6 Foundation, advancing epigenetic understanding of neurodevelopmental disorders. Her prior hospitalist roles include appointments at Hackensack UMC at Pascack Valley, Englewood Hospital, Women and Infants Hospital, and Kent Hospital. Dr. Esber has consistently combined frontline clinical care with strategic leadership and academic mentoring.
🔬Research Focus
Dr. Esber’s research focuses on genetic neurodevelopmental disorders, epigenetics, histone modification, DNA methylation episignatures, and translational diagnostics. Her leadership in rare disease research aims to bridge molecular insights with clinical application for underserved conditions such as KAT6A syndrome.
📈Author Metrics:
- First and co-author of peer-reviewed articles in journals including Science Advances, Epigenomics, Human Mutation, Human Genetics and Genomics Advances, and DNA.
- Notable citations for work on DNA methylation biomarkers and chromatin remodeling in neurodevelopmental disorders.
- Contributor to National Organization for Rare Disorders (NORD) reviews and clinical references.
🏆Awards and Honors:
- Senior Resident of the Year (2011) – Memorial Hospital of Rhode Island, Brown University
- Contributor to multiple high-impact publications in epigenetics and neurodevelopment
- Certified ICD-10 Consultant and holder of multiple active state medical licenses (NY, NJ, PA)
📝Publication Top Notes
1. Research Themes in KAT6A Syndrome: A Scoping Review
Authors: Tripathy T, St John M, Wright J, Esber N, Amor DJ
Journal: DNA, 5(2):21
DOI: https://doi.org/10.3390/dna5020021
Published: April 27, 2025
Citation:
Tripathy, T., St John, M., Wright, J., Esber, N., & Amor, D.J. (2025). Research Themes in KAT6A Syndrome: A Scoping Review.
DNA, 5(2), 21.
https://doi.org/10.3390/dna50200212. DNA Methylation Episignatures are Sensitive and Specific Biomarkers for Detection of Patients with KAT6A/KAT6B VariantsAuthors: Vos N, Reilly J, Elting M.W., Esber N, Alders M.M., Sadikovic B
Journal: Epigenomics, 15(6):351–367
DOI: 10.2217/epi-2023-0079
Citation:
Vos, N., Reilly, J., Elting, M.W., Esber, N., Alders, M.M., & Sadikovic, B. (2023). DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants.
Epigenomics, 15(6), 351–367.
https://doi.org/10.2217/epi-2023-00793. Functional Correlation of Genome-wide DNA Methylation Profiles in Genetic Neurodevelopmental Disorders
Authors: Levy M.A., Relator R., McConkey H., Esber N, et al.
Journal: Human Mutation, 43(11):1609–1628
DOI: 10.1002/humu.24446
Citation:
Levy, M.A., Relator, R., McConkey, H., Esber, N., et al. (2022). Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Human Mutation, 43(11), 1609–1628. https://doi.org/10.1002/humu.24446
4. Novel Diagnostic DNA Methylation Episignatures Expand and Refine the Epigenetic Landscapes of Mendelian Disorders
Authors: Levy M.A., Relator R., Esber N, McConkey H., et al.
Journal: Human Genetics and Genomics Advances, 3(1):100075
DOI: 10.1016/j.xhgg.2021.100075
Citation:
Levy, M.A., Relator, R., Esber, N., McConkey, H., et al. (2022). Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders. Human Genetics and Genomics Advances, 3(1), 100075. https://doi.org/10.1016/j.xhgg.2021.100075
5. Deficient Histone H3 Propionylation by BRPF1-KAT6 Complexes in Neurodevelopmental Disorders and Cancer
Authors: Yang X.J., Esber N, et al.
Journal: Science Advances, 6(4):eaax0021
DOI: 10.1126/sciadv.aax0021
Citation:
Yang, X.J., Esber, N., et al. (2020). Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer. Science Advances, 6(4), eaax0021. https://doi.org/10.1126/sciadv.aax0021
Conclusion:
Dr. Natacha Esber is highly deserving of the Top Researcher Award based on:
- Her pioneering role in epigenetic diagnostics of neurodevelopmental syndromes,
- A strong scholarly record in reputable journals,
- Foundational contributions to understanding and supporting KAT6-related disorders,
- And her unique blend of clinical, academic, and nonprofit leadership.
Verdict: Strongly Recommended
Her career exemplifies the mission of translational science—transforming molecular discovery into clinical benefit, especially for marginalized populations. Recognizing her with a Top Researcher Award would be both timely and well-justified.