Pediatric Genetics, Genomics & Metabolism

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Appointments 312.227.6120

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Care at 6 locations

The Division of Genetics, Genomics and Metabolism provides a full range of services for the diagnosis, counseling and treatment of patients with genetic and congenital disorders. These abnormalities include birth defects, intellectual disability, short stature, genetic syndromes and metabolic disorders. Our physicians have gained an international reputation for their expertise in evaluating and treating neurofibromatosis (which causes tumors to form in the nervous system), phenylketonuria (PKU), which if untreated causes intellectual disability, and lysosomal storage disorders (which are caused by enzyme deficiencies in the cell), such as the mucopolysaccharidoses, Gaucher disease, Fabry disease, Pompe disease and many others. We care for approximately 2,500 infants, children and young adults each year.

We offer the following services:

Lurie Children's is also the first in Illinois to receive designation as a NORD Rare Disease Center of Excellence, becoming one of 40 U.S. academic medical centers selected to be a part of the first-of-it-kind national network of U.S. medical institutions dedicated to diagnosing, treating, and researching all rare diseases. The network is led by the National Organization for Rare Disorders (NORD) and is designed to foster knowledge sharing between rare disease experts across the country to help meet the unmet needs of more than 25 million Americans living with a rare disease. Learn more


The Division of Genetics, Genomics and Metabolism recognized the 2024 Rare Disease Day’s zebra theme Show Your Stripes. The Division is a National Organization for Rare Disorders (NORD) Rare Disease Center of Excellence and a site for the Undiagnosed Disease Network (UDN)

Our Approach to Pediatric Genetic Disorders

 We treat the whole family along with the patient, offering a wide range of support services for the entire family. For teens and their families, Lurie Children’s offers programs that help transition from pediatric to adult care.

A multidisciplinary team of experienced healthcare providers will care for your child. This team approach makes it easier for you to see every specialist your child needs under one roof and often in the same visit. 


Our Programs

We participate in several multidisciplinary programs to help diagnose and treat children with genetic and congenital conditions.

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Pediatric Genetic Disorders and Conditions We Treat

We take specialized approaches to diagnosing and treating our patients' genetic and congenital disorders. Often times we bring in specialists from other areas of the hospital to help us best care for a child. 

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To make an appointment with one of our specialists, call the Division of Genetics, Genomics and Metabolism at 312.227.6120.

Tests & Treatments

The Division of Genetics, Genomics and Metabolism offers comprehensive genetic screening and laboratory services.

Lurie Children's Pediatric Genetic Specialists

Our genetics team includes medical geneticists (physicians who specialize in medical conditions with a genetic basis). The team also includes:

Consultations may include other pediatric specialists to give your child the most comprehensive care available. For instance, our multidisciplinary team includes eye physicians (ophthalmologists) for patients with neurofibromatosis, heart doctors (cardiologists) for those with Marfan syndrome and orthopaedic physicians for children with skeletal dysplasias.


The Division of Genetics, Genomics and Metabolism is deeply committed to research, including studies in patients (clinical trials).