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
Fingerprint
Dive into the research topics where Edward Schuchman is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 1 Similar Profiles
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
-
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders
Simonaro, C. M., Yasuda, M. & Schuchman, E. H., Jan 2025, In: Journal of Inherited Metabolic Disease. 48, 1, e12813.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
HDL-bound S1P affects the subventricular niche and early neuropathological features of Alzheimer’s disease
Choi, B. J., Hong, J. Y., Park, M. H., Park, K. H., Han, W. H., Yoon, H. J., Jung, H. Y., Kim, K. Y., Lee, S. A., Lim, E. Y., Hur, J. W., Song, I. S., Jeon, S. Y., Choi, M. K., Christoffersen, C., Kim, H. J., Kim, S. H., Schuchman, E. H., Bae, J. S. & Jin, H. K., Dec 2025, In: Nature Communications. 16, 1, 5728.Research output: Contribution to journal › Article › peer-review
-
Sphingomyelin-induced glucocorticoid receptor alterations lead to impaired presynaptic plasticity in acid sphingomyelinase deficient neurons
Naya-Forcano, S., Gaudioso, Á., Soto-Huelin, B., García-Vilela, C., Venero, C., Schuchman, E. H., Esteban, J. A. & Ledesma, M. D., Sep 2025, In: Neurobiology of Disease. 213, 107016.Research output: Contribution to journal › Article › peer-review
-
The impact of sphingomyelin on the pathophysiology and treatment response to olipudase alfa in acid sphingomyelinase deficiency
Kumar, M., Aguiar, M., Jessel, A., Thurberg, B. L., Underhill, L., Wong, H., George, K., Davidson, V. & Schuchman, E. H., Jan 2024, In: Genetics in Medicine Open. 2, 101888.Research output: Contribution to journal › Review article › peer-review
Open Access4 Scopus citations -
The Niemann-Pick diseases
Schuchman, E. H. & Desnick, R. J., 1 Jan 2024, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition: Volume 1. Elsevier, Vol. 1. p. 559-569 11 p.Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review
Press/Media
-
Australian Patent Office Grants Patent for 'DOSE ESCALATION ENZYME REPLACEMENT THERAPY FOR TREATING ACID SPHINGOMYELINASE DEFICIENCY'
Desnick, R., Schuchman, E. & Murray, M.
28/06/24
1 item of Media coverage
Press/Media
-
Researcher at Icahn School of Medicine at Mount Sinai Zeroes in on Amides (Identification of a Novel Acid Sphingomyelinase Activity Associated with Recombinant Human Acid Ceramidase)
He, X. & Schuchman, E.
16/11/23
1 item of Media coverage
Press/Media
-
New COVID-19 Study Findings Reported from Icahn School of Medicine at Mount Sinai (A 51-year-old Woman With Interstitial Lung Disease and Subsequent Covid-19 Presenting With Worsening Dyspnea)
Balwani, M., Beasley, M. B., Choo, S. Y. & Schuchman, E.
8/11/22
1 item of Media coverage
Press/Media
-