Focus of Work
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.
Education and Certification
- MD: Mount Sinai School of Medicine (1976)
- Internship: Northwestern University, McGaw Medical Center (Children’s Memorial Hospital), Pediatrics (1977)
- Residency: Northwestern University, McGaw Medical Center (Children’s Memorial Hospital), Pediatrics (1979)
- Fellowship: Northwestern University, McGaw Medical Center (Children’s Memorial Hospital), Genetics (1981)
- Board Certification: Clinical Biochemical Genetics, Clinical Genetics (MD), Pediatrics
Ann & Robert H. Lurie Children's Hospital of Chicago Box 59
225 E Chicago Avenue
Chicago IL 60611