The Division of Genetics, Birth Defects, and Metabolism within the Northwestern University Feinberg School of Medicine’s Department of Pediatrics offers education and training related to diagnosis, counseling, and treatment of genetic and congenital conditions. Through the partnership with Ann & Robert H. Lurie Children’s Hospital of Chicago (Lurie Children's), the Division’s faculty members provide a full range of services for the diagnosis, counseling and treatment of patients with genetic and congenital disorders.
Medical students, residents, and fellows in the Division’s program learn about diagnosis and treatment of genetic and congenital conditions including 22q Deletion Syndrome, Phenylketonuria (PKU), Mucopolysaccharidosis/Mucolipidosis, Pompe Disease, Gaucher Disease and other Jewish Genetic Disorders, and Marfan Syndrome.
The Division annually offers ACGME-accredited fellowships through the National Resident Matching Program.
The Division of Genetics is deeply committed to research and is currently involved in a number of clinical research projects related to the natural history, treatment and long-term outcomes of genetic diseases. Recent research topics include:
- Treatment of optic pathway tumors and plexiform neurofibromas in children with neurofibromatosis
- Enzyme replacement therapy for children and adults with lysosomal storage diseases (e.g., Gaucher, Pompe and Fabry diseases)
- Long-term follow up of treatment for phenylketonuria (PKU)
- Identification of genes involved in the development of neural tube defects, such as spina bifida
- Long-term follow up of children and adults with Marfan syndrome
Consultations provided by the Division of Genetics, Birth Defects, and Metabolism include general evaluations of children with birth defects, mental retardation, short stature or suspected syndromes, or metabolic disorders. The Division also offers families genetic counseling.
Specific consultations that include other pediatric subspecialists are also available. Multidisciplinary consultations are targeted for disorders that affect children and adults, such as those that involve the nervous system (neurogenetic), the eyes (ophthalmogenetic); neurofibromatosis; PKU; Gaucher disease; cardiomyopathy and Marfan syndrome.
In addition to the facilities at Lurie Children’s, the Division offers outpatient care from offices in Glenview and Westchester, Illinois.
Joel Charrow, MD
Genetics, Birth Defects, and Metabolism
For more information, contact the Department of Pediatrics Division of Genetics, Birth Defects, and Metabolism.