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) |
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
Education/Academic qualification
MD, Medicine, Mount Sinai School of Medicine
… → 1976
Research interests keywords
- Genetics: Medical
- Metabolism
- Neurofibromatosis
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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
Charrow, J. (PD/PI)
3/12/20 → 8/31/50
Project: Research project
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Natural history study for pediatric patients with early onset of either GM1 gangliosidosis, GM2 gangliosidoses, or Gaucher disease type 2
Charrow, J. (PD/PI)
11/6/19 → 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
Charrow, J. (PD/PI)
4/25/19 → 8/31/50
Project: Research project
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BMN 111-302: A Phase 3, Open-Label Long-Term Extension Study to Evaluate the Safety and Efficacy of BMN 111 in Children with Achondroplasia
Charrow, J. (PD/PI)
12/18/18 → 8/31/50
Project: Research project
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Aminotransferase trends in propionic acidemia
Silva, M. P., Raski, C. R., Charrow, J., Baker, J. J. & Prada, C. E., Sep 2024, In: American Journal of Medical Genetics, Part A. 194, 9, e63659.Research output: Contribution to journal › Article › peer-review
Open Access -
Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome
Garzon, J. P., Patete, A., Aschbacher-Smith, L., Qu'd, D., Kelly-Mancuso, G., Raski, C. R., Weisman, A. G., Hankins, M., Sawin, M., Kim, K., Drackley, A., Zeid, J., Weaver, K. N., Hopkin, R. J., Saal, H. M., Charrow, J., Schorry, E., Listernick, R., Simpson, B. N. & Prada, C. E., Dec 2024, In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 196, 4, e32095.Research output: Contribution to journal › Article › peer-review
Open Access -
Long-term effectiveness of eliglustat treatment: A real-world analysis from the International Collaborative Gaucher Group Gaucher Registry
Mistry, P. K., Balwani, M., Charrow, J., Lorber, J., Niederau, C., Carwile, J. L., Oliveira-dos-Santos, A., Perichon, M. G., Uslu Cil, S. & Kishnani, P. S., Aug 2024, In: American Journal of Hematology. 99, 8, p. 1500-1510 11 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease
Rasmussen, C. A., Quadri, A., Vucko, E., Kim, K., Hickey, R., Baker, J. J., Charrow, J. & Prada, C. E., Jan 2024, In: Molecular Genetics and Metabolism. 141, 1, 107736.Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
Vosoritide therapy in children with achondroplasia aged 3−59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial
Savarirayan, R., Wilcox, W. R., Harmatz, P., Phillips, J., Polgreen, L. E., Tofts, L., Ozono, K., Arundel, P., Irving, M., Bacino, C. A., Basel, D., Bober, M. B., Charrow, J., Mochizuki, H., Kotani, Y., Saal, H. M., Army, C., Jeha, G., Qi, Y. & Han, L. & 3 others, , Jan 2024, In: The Lancet Child and Adolescent Health. 8, 1, p. 40-50 11 p.Research output: Contribution to journal › Article › peer-review
31 Scopus citations
Datasets
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Crystal structure of glucocerebrosidase with an inhibitory quinazoline modulator
Zheng, J. (Contributor), Chen, L. (Contributor), Skinner, O. S. (Contributor), Ysselstein, D. (Contributor), Remis, J. (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), Protein Data Bank (PDB), Oct 25 2017
DOI: 10.2210/pdb5LVX/pdb, https://www.wwpdb.org/pdb?id=pdb_00005lvx
Dataset
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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), figshare, 2016
DOI: 10.6084/m9.figshare.c.3622322, https://figshare.com/collections/Increased_Wnt_and_Notch_signaling_a_clue_to_the_renal_disease_in_Schimke_immuno-osseous_dysplasia_/3622322
Dataset