Key Publications
Teferedegn E, Izumi K, Ahrens-Nicklas R, Bhoj E, Rippert A. Rothmund-Thomson Syndrome Type 2 in an African American/Puerto Rican Child Demonstrates Diagnostic Challenges in Diverse Population. Am J Med Genet A. 2025 Jun 9:e64132. doi: 10.1002/ajmg.a.64132. Epub ahead of print. PMID: 40485636.
Kiran Musunuru, M.D., Ph.D.*, Sarah A. Grandinette, B.S.*, Xiao Wang, Ph.D., Taylor R. Hudson, M.S., Kevin Briseno, B.S., Anne Marie Berry, M.S., Julia L. Hacker, M.S., Alvin Hsu, B.S., Rachel A. Silverstein, B.S., Logan T. Hille, Ph.D., Aysel N. Ogul, Nancy A. Robinson-Garvin, Ph.D., Juliana C. Small, Ph.D., Sarah McCague, M.S., Samantha M. Burke, B.S.N., Christina M. Wright, M.D., Ph.D., Sarah Bick, M.D., Venkata Indurthi, Ph.D., Shweta Sharma, M.S., Michael Jepperson, M.S., Christopher A. Vakulskas, Ph.D. , Michael Collingwood, B.S., Katie Keogh, Ph.D., Ashley Jacobi, B.S., Morgan Sturgeon, Ph.D., Christian Brommel, M.S., Ellen Schmaljohn, Ph.D., Gavin Kurgan, Ph.D., Thomas Osborne, B.S., He Zhang, Ph.D., Kyle Kinney, Ph.D. , Garrett Rettig, Ph.D., Christopher J. Barbosa, Ph.D., Sean C. Semple, Ph.D., Ying K. Tam, Ph.D., Cathleen Lutz, Ph.D., Lindsey A. George, M.D., Benjamin P. Kleinstiver, Ph.D., David R. Liu, Ph.D., Kim Ng, M.D., Sadik H. Kassim, Ph.D., Petros Giannikopoulos, M.D., Mohamad-Gabriel Alameh, Ph.D., Fyodor D. Urnov, Ph.D., and Rebecca C. Ahrens-Nicklas, M.D., Ph.D. Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease. New England Journal of Medicine DOI: 10.1056/NEJMoa2504747
*Sarah and Kiran contributed equally to this work
Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency
Pham, V., Tricoli, L., Hong, X., Wongkittichote, P., Castracani, C. C., Guerra, A., Schlotawa, L., Adang, L. A., Kuhs, A., Cassidy, M. M., Kane, O., Tsai, E., Presa, M., Lutz, C., Rivella, S. B. & Ahrens-Nicklas, R. C.(2024).“Hematopoietic Stem Cell Gene Therapy Improves Outcomes in a Clinically Relevant Mouse Model of Multiple Sulfatase Deficiency.” Molecular Therapy 32.11 (2024): 3829–3846. Web.
Effective gene therapy for metachromatic leukodystrophy achieved with minimal lentiviral genomic integrations
Tricoli, L., Sase, S., Hacker, J. L., Pham, V., Chappell, M., Breda, L., Hurwitz, S. N., Tanaka, N., Castracani, C. C., Guerra, A., Hou, Z., Schlotawa, L., Radhakrishnan, K., Hogenauer, M., Roche, A., Everett, J., Bushman, F., Kurre, P., Ahrens-Nicklas, R., … Rivella, S. (2025). Effective gene therapy for metachromatic leukodystrophy achieved with minimal lentiviral genomic integrations. Molecular Therapy Nucleic Acids, 36(1), 102464. https://doi.org/10.1016/j.omtn.2025.102464
Functional connectivity changes in mouse models of maple syrup urine disease
Lavery, S., Adepoju T. E., Fisher, H. B., Chan, C. Kuhs, A., Ahrens-Nicklas, R. C., White, B. R. (2025). Functional connectivity changes in mouse models of maple syrup urine disease. Cerebral Cortex, Volume 35, Issue 2, February 2025, bhaf040, https://doi.org/10.1093/cercor/bhaf040.
Kuhs, A. C., Ohl, L., Thurston, T., Singh, J., Bhuyan, S., Grandinette, S., Xu, J., Siemsgluess, S. A., Jakher, Y. & Ahrens-Nicklas, R. C. (2025). Contribution of Brain Intrinsic Branched-Chain Amino Acid Metabolism in a Novel Mouse Model of Maple Syrup Urine Disease. Journal of Inherited Metabolic Disease, 48(2), e70003. https://doi.org/10.1002/jimd.70003
Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model
Presa, M., Pham, V., Ray, S., Piec, P.-A., Ryan, J., Billings, T., Coombs, H., Schlotawa, L., Lund, T., Ahrens-Nicklas, R. C. & Lutz, C. (2024). Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model. Communications Medicine, 4(1), 215. https://doi.org/10.1038/s43856-024-00648-y
Nomakuchi, T.T., Teferedegn, E.Y., Li, D., Muirhead, K.J., Dubbs, H., Leonard, J., Muraresku, C., Sergio, E., Arnold, K., Pizzino, A., Skraban, C.M., Zackai, E.H., Wang, K., Ganetzky, R.D., Vanderver, A.L., Ahrens-Nicklas, R.C., Bhoj, E.J.K., 2024. Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes. Am. J. Méd. Genet. Part A e63817. doi:10.1002/ajmg.a.63817
Ohl, L., Kuhs, A., Pluck, R., Durham, E., Noji, M., Philip, N. D., Arany, Z. & Ahrens-Nicklas, R. C. (2024). Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency. Molecular Genetics and Metabolism Reports, 39, 101091. https://doi.org/10.1016/j.ymgmr.2024.101091
Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy
Keisling, J., Bedoukian, E., Burstein, D. S., Gaynor, J. W., Gray, C., Krantz, I., Izumi, K., Leonard, J., Lin, K. Y., Medne, L., Seymour, C., Skraban, C., Rippert, A. L. & Ahrens-Nicklas, R. C. (2024). Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy. The Journal of Pediatrics, 265, 113808. https://doi.org/10.1016/j.jpeds.2023.113808
A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency
Pham, V., Finoti, L. S., Cassidy, M. M., Maguire, J. A., Gagne, A. L., Waxman, E. A., French, D. L., King, K., Zhou, Z., Gelb, M. H., Wongkittichotee, P., Hong, X., Schlotawa, L., Davidson, B. L. & Ahrens-Nicklas, R. C. (2023). A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency. Molecular Genetics and Metabolism, 108116. https://doi.org/10.1016/j.ymgme.2023.108116
Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need
Brooks, D. L., Whittaker, M. N., Qu, P., Musunuru, K., Ahrens-Nicklas, R. C. & Wang, X. (2023). Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need. The American Journal of Human Genetics, 110(12), 2003–2014. https://doi.org/10.1016/j.ajhg.2023.10.005
Biochemical signatures of disease severity in multiple sulfatase deficiency
Adang, L. A., Mowafy, S., Herbst, Z. M., Zhou, Z., Schlotawa, L., Radhakrishnan, K., Bentley, B., Pham, V., Yu, E., Pillai, N. R., Orchard, P. J., Castro, M. D., Vanderver, A., Pasquali, M., Gelb, M. H. & Ahrens-Nicklas, R. C. (2023). Biochemical signatures of disease severity in multiple sulfatase deficiency. Journal of Inherited Metabolic Disease. https://doi.org/10.1002/jimd.12688
Neuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation.
Ahrens-Nicklas, R. C., Tecedor, L., Hall, A. F., Kane, O., Chung, R. J., Lysenko, E., Marsh, E. D., Stein, C. S. & Davidson, B. L. (2022). Neuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation. Mol Ther, 30(7), 2464–2473. https://doi.org/10.1016/j.ymthe.2022.03.025
Neuronal network dysfunction precedes storage and neurodegeneration in a lysosomal storage disorder
Ahrens-Nicklas, R. C., Tecedor, L., Hall, A. F., Lysenko, E., Cohen, A. S., Davidson, B. L. & Marsh, E. D. (2019). Neuronal network dysfunction precedes storage and neurodegeneration in a lysosomal storage disorder. JCI Insight, 4(21). https://doi.org/10.1172/jci.insight.131961