Research output per year
Research output per year
Personal profile
Headline
PROFESSOR | Genetics and Genomic Sciences
ENDOWED CHAIR | Genetic Disease Foundation-Francis Crick Professor
RESEARCH UNIT | Acid Ceramidase, Lysosomal Storage Diseases, Acid Sphingomyelinase
ENDOWED CHAIR | Genetic Disease Foundation-Francis Crick Professor
RESEARCH UNIT | Acid Ceramidase, Lysosomal Storage Diseases, Acid Sphingomyelinase
Research interests
- Sphingomyelin Phosphodiesterase
- Niemann-Pick Diseases
- Acid Ceramidase
- Farber Disease
- Mucopolysaccharidoses
- Lysosomes
- Ceramide Signaling
- Rare Diseases
- Drug Discovery
- Endocannabinoids
- Cystic Fibrosis
- reperfusion injury
- ischemia
- cartilage repair
- pentosan polysulfate
- in vitro fertilization
- biomarkers
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Collaborations and top research areas from the last five years
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Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)
Geberhiwot, T., Wasserstein, M., Wanninayake, S., Bolton, S. C., Dardis, A., Lehman, A., Lidove, O., Dawson, C., Giugliani, R., Imrie, J., Hopkin, J., Green, J., de Vicente Corbeira, D., Madathil, S., Mengel, E., Ezgü, F., Pettazzoni, M., Sjouke, B., Hollak, C., Vanier, M. T., & 2 others, Dec 2023, In: Orphanet Journal of Rare Diseases. 18, 1, 85.Research output: Contribution to journal › Article › peer-review
Open Access -
Immunotherapy targeting plasma ASM is protective in a mouse model of Alzheimer’s disease
Choi, B. J., Park, M. H., Park, K. H., Han, W. H., Yoon, H. J., Jung, H. Y., Hong, J. Y., Chowdhury, M. R., Kim, K. Y., Lee, J., Song, I. S., Pang, M., Choi, M. K., Gulbins, E., Reichel, M., Kornhuber, J., Hong, C. W., Kim, C., Kim, S. H., Schuchman, E. H., & 2 others, Dec 2023, In: Nature Communications. 14, 1, 1631.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Modulation of Dietary Choline Uptake in a Mouse Model of Acid Sphingomyelinase Deficiency
Gaudioso, Á., Moreno-Huguet, P., Casas, J., Schuchman, E. H. & Ledesma, M. D., Jun 2023, In: International Journal of Molecular Sciences. 24, 11, 9756.Research output: Contribution to journal › Article › peer-review
Open Access -
Sphingomyelin 16:0 is a therapeutic target for neuronal death in acid sphingomyelinase deficiency
Gaudioso, Á., Jiang, X., Casas, J., Schuchman, E. H. & Ledesma, M. D., Apr 2023, In: Cell Death and Disease. 14, 4, 248.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
The cholesterol transporter NPC1 is essential for epigenetic regulation and maturation of oligodendrocyte lineage cells
Kunkel, T. J., Townsend, A., Sullivan, K. A., Merlet, J., Schuchman, E. H., Jacobson, D. A. & Lieberman, A. P., Dec 2023, In: Nature Communications. 14, 1, 3964.Research output: Contribution to journal › Article › peer-review
Open Access
Press/Media
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Rep. Castor Issues Statement Honoring 175 Inventors Inducted As 2020 Fellows of The National Academy of Inventors
Robert Desnick & Edward Schuchman
26/06/21
1 item of Media coverage
Press/Media
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Startup Spotlight: New biopharma targets rare diseases with $35M in backing from NovaQuest
3/05/21
1 item of Media coverage
Press/Media
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Focused On Rare Illnesses, NC Startup Aceragen Goes After Farber Disease
2/05/21
1 item of Media coverage
Press/Media
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Fifth Annual Mount Sinai Innovation Awards
Emily Bernstein,, Calogera Simonaro, Joseph Rothstein, Li Shen, Laurie Keefer, Weiva Sieh, Dirk Hubmacher,, Edward Schuchman, Jordyn Feingold, Daniel Ranti, Tim Ahfeldt, Chiara Vardabasso, Roberto Sanchez, Barbara Murphy, Anthony Costa, Ksenia Gorbenko, Steven Coca, Laurie Margolies, Alejandro Berenstein,, Richard Rosen, Avnish Deobhakta, & Thomas Oxley
25/11/19
1 item of Media coverage
Press/Media
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Researchers Work to Repurpose Drug to Battle Rare MPS Diseases
Calogera Simonaro & Edward Schuchman
22/01/19
1 item of Media coverage
Press/Media