Joel Charrow

  • 6262 Citations
1978 …2019
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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.

Care of patients with inborn errors of metabolism and lysosomal storage disorders, Skeletal dysplasias, and Neurofibromatosis. Director, Biochemical Genetics Lab. Medical Director, Cytogenetics Lab.

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.

Certifications and Licenses

Clinical Genetics (MD)
Clinical Biochemical Genetics

Training Experience

1977Internship, Northwestern University, McGaw Medical Center (Children’s Memorial Hospital)
1979Residency, Northwestern University, McGaw Medical Center (Children’s Memorial Hospital)
1981Fellowship, Northwestern University, McGaw Medical Center (Children’s Memorial Hospital)

Education/Academic qualification

MD, Mount Sinai School of Medicine

… → 1976


  • Genetics: Medical
  • Metabolism
  • Neurofibromatosis

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Research Output 1978 2019

Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine?

Sanders, V. R., Sheldon, S. H. & Charrow, J., Feb 1 2019, In : Genetics in Medicine. 21, 2, p. 459-463 5 p.

Research output: Contribution to journalReview article

Spinal Cord Compression
Cervical Cord
Magnetic Resonance Imaging
Plexiform Neurofibroma
Neurofibromatosis 1
Age Groups
2 Citations (Scopus)

Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial

Charrow, J., Fraga, C., Gu, X., Ida, H., Longo, N., Lukina, E., Nonino, A., Gaemers, S. J. M., Jouvin, M. H., Li, J., Wu, Y., Xue, Y. & Peterschmitt, M. J., Mar 1 2018, In : Molecular Genetics and Metabolism. 123, 3, p. 347-356 10 p.

Research output: Contribution to journalArticle

Gaucher Disease
1 Citation (Scopus)

Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1

Mistry, P. K., Balwani, M., Baris, H. N., Turkia, H. B., Burrow, T. A., Charrow, J., Cox, G. F., Danda, S., Dragosky, M., Drelichman, G., El-Beshlawy, A., Fraga, C., Freisens, S., Gaemers, S., Hadjiev, E., Kishnani, P. S., Lukina, E., Maison-Blanche, P., Martins, A. M., Pastores, G. & 6 othersPetakov, M., Peterschmitt, M. J., Rosenbaum, H., Rosenbloom, B., Underhill, L. H. & Cox, T. M., Jul 1 2018, In : Blood Cells, Molecules, and Diseases. 71, p. 71-74 4 p.

Research output: Contribution to journalLetter

Gaucher Disease