Grants per year
Personal profile
Research Interests
I have been practicing at Children's for more than 35 years, and continue to be clinically active, direct the Biochemical Genetics Lab, teach genetics to medical students, residents and fellows, and conduct research on genetic disorders. Board certified in Pediatrics, Clinical Genetics, and Clinical Biochemical Genetics. Professor of Pediatrics, Northwestern University Feinberg School of Medicine. Division Head, Genetics, Birth Defects and Metabolism.
Tay-Sachs disease and other gangliosidoses. Delineating the relationship between genetic abnormalities and specific phenotypes, with emphasis on the natural history of genetic disorders. Methods and pitfalls in population screening for genetic disorders. Natural history of neurofibromatosis-1 during childhood. Natural history and treatment of Gaucher disease and other lysosomal storage diseases.
Care of patients with inborn errors of metabolism and lysosomal storage disorders, Skeletal dysplasias, and Neurofibromatosis. Director, Biochemical Genetics Lab. Medical Director, Cytogenetics Lab.
Certifications and Licenses
| Clinical Biochemical Genetics | |
| Pediatrics | |
| Clinical Genetics (MD) |
Training Experience
| 1977 | Internship, Northwestern University, McGaw Medical Center (Children’s Memorial Hospital) |
| 1979 | Residency, Northwestern University, McGaw Medical Center (Children’s Memorial Hospital) |
| 1981 | Fellowship, Northwestern University, McGaw Medical Center (Children’s Memorial Hospital) |
Education/Academic qualification
MD, Medicine, Mount Sinai School of Medicine
… → 1976
Research interests keywords
- Genetics: Medical
- Metabolism
- Neurofibromatosis
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Dive into the research topics where Joel Charrow is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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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
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A Phase 2 Open-Label Long-Term Extension Study to Evaluate the Safety and Efficacy of BMN 111 in Children with Achondroplasia
3/12/20 → 8/31/50
Project: Research project
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A Phase 1/2 Study of ARQ 092 (Miransertib) in Subjects with PIK3CA-related Overgrowth Spectrum and Proteus Syndrome
4/25/19 → 8/31/50
Project: Research project
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Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1
Cox, T. M., Charrow, J., Lukina, E., Mistry, P. K., Foster, M. C. & Peterschmitt, M. J., Feb 2023, In: Genetics in Medicine. 25, 2, 100329.Research output: Contribution to journal › Article › peer-review
Open Access -
The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11, 5158
Mistry, P. K., Kishnani, P. S., Balwani, M., Charrow, J. M., Hull, J., Weinreb, N. J. & Cox, T. M., May 2023, In: Journal of Clinical Medicine. 12, 9, 3269.Research output: Contribution to journal › Letter › peer-review
Open Access1 Scopus citations -
A rapid LC-MS/MS assay for detection and monitoring of underivatized branched-chain amino acids in maple syrup urine disease
Piri-Moghadam, H., Miller, A., Pronger, D., Vicente, F., Charrow, J., Haymond, S. & Lin, D. C., Apr 2022, In: Journal of Mass Spectrometry and Advances in the Clinical Lab. 24, p. 107-117 11 p.Research output: Contribution to journal › Article › peer-review
Open Access5 Scopus citations -
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study
Savarirayan, R., Irving, M., Harmatz, P., Delgado, B., Wilcox, W. R., Philips, J., Owen, N., Bacino, C. A., Tofts, L., Charrow, J., Polgreen, L. E., Hoover-Fong, J., Arundel, P., Ginebreda, I., Saal, H. M., Basel, D., Font, R. U., Ozono, K., Bober, M. B., Cormier-Daire, V., & 19 others, Dec 2022, In: Genetics in Medicine. 24, 12, p. 2444-2452 9 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Quantification of Branched-Chain Amino Acids in Plasma by High-Performance Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Piri-Moghadam, H., Miller, A., Pronger, D., Vicente, F., Charrow, J., Haymond, S. & Lin, D. C., 2022, Methods in Molecular Biology. Humana Press Inc., p. 65-81 17 p. (Methods in Molecular Biology; vol. 2546).Research output: Chapter in Book/Report/Conference proceeding › Chapter
1 Scopus citations
Datasets
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5LVX : Crystal structure of glucocerebrosidase with an inhibitory quinazoline modulator
Zheng, J. (Contributor), Chen, L. (Contributor), Skinner, O. S. (Contributor), Lansbury, P. (Contributor), Skerlj, R. (Contributor), Mrosek, M. (Contributor), Heunisch, U. (Contributor), Krapp, S. (Contributor), Charrow, J. (Contributor), Schwake, M. (Contributor), Kelleher, N. L. (Contributor), Silverman, R. B. (Contributor) & Krainc, D. (Contributor), RCSB-PDB, 2017
DOI: 10.2210/pdb5lvx/pdb, https://www.rcsb.org/structure/5LVX
Dataset
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Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
Morimoto, M. (Creator), Myung, C. (Creator), Beirnes, K. (Creator), Choi, K. (Contributor), Asakura, Y. (Creator), Bokenkamp, A. (Creator), Bonneau, D. (Creator), Brugnara, M. (Creator), Charrow, J. (Creator), Colin, E. (Creator), Davis, A. (Creator), Deschenes, G. (Creator), Gentile, M. (Creator), Giordano, M. (Creator), Gormley, A. K. (Creator), Govender, R. (Contributor), Joseph, M. (Creator), Keller, K. (Creator), Lerut, E. (Creator), Levtchenko, E. (Creator), Massella, L. (Creator), Mayfield, C. (Creator), Najafian, B. (Creator), Parham, D. (Creator), Spranger, J. (Creator), Stenzel, P. (Creator), Yis, U. (Contributor), Yu, Z. (Contributor), Zonana, J. (Creator), Hendson, G. (Creator), Boerkoel, C. F. (Creator) & Boerkoel, C. (Creator), figshare, 2016
DOI: 10.6084/m9.figshare.c.3622322.v1, https://figshare.com/collections/Increased_Wnt_and_Notch_signaling_a_clue_to_the_renal_disease_in_Schimke_immuno-osseous_dysplasia_/3622322/1
Dataset