Northwestern University Feinberg School of Medicine

Department of Pediatrics

Genetics, Birth Defects, and Metabolism

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.

Education

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/MucolipidosisPompe Disease, Gaucher Disease and other Jewish Genetic Disorders, and Marfan Syndrome.

The Division annually offers ACGME-accredited fellowships through the National Resident Matching Program.

Research

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:

Patient Care

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.

Stanford Shulman, MD

Joel Charrow, MD
Division Head
Genetics, Birth Defects, and Metabolism

Contact Us

For more information, contact the Department of Pediatrics Division of Genetics, Birth Defects, and Metabolism.