Innovative Research Award

Gustavo Maegawa — Columbia University Irving Medical Center, United States

Gustavo Maegawa is a physician-scientist and academic researcher affiliated with Columbia University Irving Medical Center. His documented academic work includes clinical genetics, genomics, lysosomal storage disorders, and biochemical research, with publications addressing inherited metabolic diseases and related molecular mechanisms. Bibliographic records supplied for this recognition profile report 54 documents, 2,549 citations, and an h-index of 25.[1]

Abstract

Gustavo Maegawa is a physician-scientist affiliated with Columbia University Irving Medical Center whose research spans clinical genetics, genomics, biochemical investigation, and lysosomal storage disorders. His academic record includes research addressing inherited metabolic diseases and molecular mechanisms relevant to rare disorders. Publicly indexed publications identify his participation in multidisciplinary studies involving disease mechanisms, screening, therapeutic development, and molecular characterization.[1][2] Bibliographic information supplied for this profile records 54 documents, 2,549 citations, and an h-index of 25. His research activity therefore provides a basis for recognition under an Innovative Research Award framework, particularly through sustained scholarly contribution and interdisciplinary biomedical investigation. Recent publications further demonstrate continued involvement in research on lysosomal and inherited metabolic disorders.[1]

Keywords

Gustavo Maegawa; Innovative Research Award; Columbia University Irving Medical Center; biochemistry; clinical genetics; genomics; lysosomal storage disorders; inherited metabolic diseases; rare diseases; biomedical research; translational research; molecular medicine.[1]

Introduction

Gustavo Maegawa is identified by Columbia University as an Associate Professor of Pediatrics with academic expertise in clinical genetics and genomics. His research has focused particularly on lysosomal storage disorders, a group of inherited metabolic conditions involving defects in cellular degradation pathways.[1]

Research Profile

The research profile associated with Gustavo Maegawa encompasses clinical genetics, genomics, biochemical research, and lysosomal storage disorders. Columbia University describes his research focus as including lysosomal storage disorders and his professional expertise as clinical genetics and genomics.[1]

Research Contributions

His publication record also includes research related to newborn screening for lysosomal storage disorders. A 2024 study examining screening for six lysosomal storage disorders in China included Maegawa as a co-author and identified Columbia University affiliations.[5]

Publications

Selected publications involving Gustavo Maegawa demonstrate a research emphasis on rare diseases, inherited metabolic disorders, molecular mechanisms, and translational biomedical investigation. The following examples are drawn from indexed bibliographic records and are presented as representative publications rather than as a complete bibliography.[1]

Research Impact

Beyond citation indicators, the subject areas represented in the publication record are relevant to clinical genetics and rare-disease research. Studies involving lysosomal storage disorders, genetic screening, molecular mechanisms, and potential therapeutic strategies demonstrate connections between laboratory investigation and clinically relevant questions.[3][5]

Award Suitability

The Innovative Research Award is aligned with a research profile demonstrating sustained scholarly activity and contributions to scientific investigation. Gustavo Maegawa’s documented work in clinical genetics, genomics, biochemical research, and lysosomal storage disorders provides a relevant academic basis for consideration under this recognition category.[1]

Conclusion

Gustavo Maegawa’s research profile reflects sustained involvement in clinical genetics, genomics, biochemistry, and lysosomal storage disorder research. His publications address clinically and biologically significant questions involving inherited metabolic diseases, screening, molecular mechanisms, and therapeutic investigation.[3][4]

External Links

• ORCID Profile
• Scopus Author Profile
• Google Scholar Profile
•  International Research Awards

References

1. Begum, S., Hsueh, S.-C., Cheria, E. M. Y., et al. Sphingolipid-neutralizing molecular therapy reduces psychosine cytotoxicity in Krabbe disease. iScience, 29(3), 114808, 2026. DOI: https://doi.org/10.1016/j.isci.2026.114808
2. Yi, M., Wang, Y., Gao, X., et al. Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA. Journal of Inherited Metabolic Disease, 45(3), 593–604, 2022.
   https://doi.org/10.1002/jimd.12491
3. Maegawa, G. H. B., Tropak, M. B., Buttner, J. D., Rigat, B. A., Fuller, M., Pandit, D., Tang, L., Kornhaber, G. J., Hamuro, Y., Clarke, J. T. R., & Mahuran, D. J. (2009). Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease. Journal of Biological Chemistry, 284(35), 23502–23516.
   https://doi.org/10.1074/jbc.M109.012393
4. Santelices, J., Ou, M., Maegawa, G. H. B., et al. USP8 inhibition regulates autophagy flux and controls Salmonella infection. Frontiers in Cellular and Infection Microbiology, 13, 1070271, 2023.  https://doi.org/10.3389/fcimb.2023.1070271
5. Mallack, E. J., Turk, B. R., Yan, H., Price, C., Demetres, M., Moser, A. B., Becker, C., Hollandsworth, K., Adang, L., Vanderver, A., & Van Haren, K. (2021). MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines. Journal of Inherited Metabolic Disease.
   https://doi.org/10.1002/jimd.12356