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

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. 


Tests & Treatments

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

Pediatric Genetics, Genomics & Metabolic 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.

Carlos E. Prada, MD

Division Head, Genetics, Genomics and Metabolism; Valerie and George D. Kennedy Research Professorship in Human Molecular Genetics

Joshua Baker, DO, FAAP, FACMG

Attending Physician, Genetics, Genomics and Metabolism; Director of Inborn Errors of Metabolism; Director of Newborn Screening

Barbara K. Burton, MD

Attending Physician, Genetics, Genomics and Metabolism

Brandon Chalazan, MD, PhD

Attending Physician, Genetics, Genomics and Metabolism

Jalen Clemmons, LMSW

Social Worker, Genetics, Genomics & Metabolism

Kelsey Hogan, MS, CGC

Genetic Counselor II, Genetics, Genomics and Metabolism

Carolyn H. Jones, MD, ScD

Attending Physician, Genetics

Peter J. Leahy, MD

Attending Physician, Genetics, Genomics and Metabolism

Mindy H. Li, MD

Attending Physician, Genetics, Genomics and Metabolism

Anne McRae, MMS, CGC, PA-C

Physician Assistant, Genetics, Genomics and Metabolism

Ari Nouraee, MS

Genetic Counselor, Genetics, Genomics and Metabolism

Allie M. Paltzer, MS, CGC

Genetic Counselor I, Genetics, Genomics and Metabolism; Lysosomal Storage Disorder Fellow

Margaret M. Tobin, MSN, APRN, FNP-BC

Family Nurse Practitioner, Genetics, Genomics and Metabolism

Erika R. Vucko, APRN-NP, FNP

Family Nurse Practitioner, American Nurses Credentialing Center

Kirsten E. Havens, DNP, APRN, CPNP-PC

Pediatric Nurse Practitioner, Genetics, Genomics and Metabolism

Katherine H. Kim, MS, CGC

Genetic Counselor Manager, Genetics, Genomics and Metabolism

Valerie Allegretti, MS, CGC

Genetic Counselor I, Genetics, Genomics and Metabolism

Madison Benedict, MS, CGC

Genetic Counselor I, Genetics, Genomics and Metabolism

Sara Cherny, MS, CGC

Genetic Counselor III, Cardiology

Kristin Clemenz, MS, CGC

Genetic Counselor III, Hematology, Oncology, Neuro-Oncology & Stem Cell Transplantation

Lenika De Simone, MS, CGC

Genetic Counselor II, Neurology

Andrew Drackley, MS, CGC

Genetic Counselor I, Genetics, Genomics and Metabolism

Jaime C. Duncan, MS, CGC

Genetic Counselor I, Genetics, Genomics and Metabolism

Hailey Funk, MS, CGC

Genetic Counselor, Genetics, Genomics and Metabolism

Cassandra Heald, MS, CGC

Genetic Counselor II, Genetics, Genomics and Metabolism

Rachel Hickey, MS, CGC

Genetic Counselor II, Genetics, Genomics and Metabolism

Eleanor Hilton, MS, CGC

Genetic Counselor I, Genetics, Genomics and Metabolism

Alexander Ing, MS, CGC

Genetic Counselor III, Genetics, Genomics and Metabolism

Jelena Ivanisevic, MS, CGC

Genetic Counselor I, Neurology

Monika D. Izdebski, MS, CGC

Genetic Counselor I, Genetics, Genomics and Metabolism; Lysosomal Storage Disorder Fellow

Sarah C. Jurgensmeyer, MS, CGC

Genetic Counselor II, Genetics, Genomics and Metabolism

Elizabeth Leeth, MS, CGC

Genetic Counselor III, Genetics, Birth Defects & Metabolism

Erin McGinnis, MS, CGC

Genetic Counselor II, Neurology

Shelly McQuaid, MS, CGC

Genetic Counselor III, Genetics, Genomics and Metabolism

Angelique Mercier, MS, CGC

Genetic Counselor II, Genetics, Genomics and Metabolism

Miguel A. Moran, MS, CGC

Genetic Counselor, Genetics, Genomics and Metabolism

Andrea Paras, MS, CGC

Genetic Counselor III, Genetics, Genomics and Metabolism

Merlene Peter, MMSc, CGC

Genetic Counselor I, Genetics, Genomics and Metabolism

Allegra M. Quadri, MS, CGC

Genetic Counselor I, Genetics, Genomics and Metabolism

Carolyn R. Raski, MS, CGC

Genetic Counselor II, Genetics, Genomics and Metabolism

Carly Rasmussen, MS, CGC

Genetic Counselor I, Genetics, Birth Defects & Metabolism; Lysosomal Storage Disorder Fellow

Allison (Goetsch) Weisman, MS, CGC

Genetic Counselor II, Genetics, Genomics and Metabolism

Kristen Young, MS, CGC

Genetic Counselor I, Genetics, Genomics and Metabolism

Make an Appointment

Call the Division of Genetics, Genomics and Metabolism to make an appointment with one of our specialists. 

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Our Research

The Division of Genetics, Genomics and Metabolism is deeply committed to research. The team focuses on natural history studies and clinical trials, ranging from Phase I to Phase IV, to develop and enhance treatments for various genetic disorders such as phenylketonuria, neurofibromatosis, and lysosomal storage disorders.

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Our Locations

Ann & Robert H. Lurie Children's Hospital of Chicago

225 E. Chicago Ave.
Chicago, Illinois 60611
312.227.4000

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Lurie Children's Hospital Outpatient Center in Lincoln Park

2515 N. Clark Street/467 W. Deming Place
Chicago, Illinois 60614-3393
1.800.543.7362

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Lurie Children's at Northwestern Medicine Central DuPage Hospital Pediatric Outpatient Center

25 N. Winfield Road
East Entrance
Winfield, Illinois 60190
630.933.6631

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Lurie Children’s Hospital Outpatient Center in Skokie

3722 W. Touhy Avenue
Skokie, Illinois 60076
312.227.5600

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Lurie Children's Hospital Outpatient Center in Arlington Heights

Busse Center for Specialty Medicine
880 W. Central Rd, Ste 6400
Arlington Heights, Illinois 60005
312.227.5410

Get Directions

Genetics News & Stories

The Falasz Family Finds Comfort in Their Care Team After Turner Syndrome Diagnosis

At 18 months, Rose was diagnosed with a genetic condition that she'd have to manage the rest of her life - Mosaic Turner Syndrome. Thankfully, her parents found immense comfort in the experts at Lurie Children's. 

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Revolutionary Therapy Provides Hope to Rare Disease Patients like Wesley

At 19 months old, Wesley was diagnosed with a rare, genetic disorder called Hunter Syndrome. His parents moved to Chicago to pursue the best possible treatment option - a revolutionary clinical trial with Dr. Barbara Burton.

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Genetic Testing in Cardiology Frequently Asked Questions

Lurie Children's experts answer the most frequently asked questions about genetic testing and screening to help you understand and manage your family's cardiovascular health. 

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Genes, Genetics and Genetic Counselors

Genetic counseling can be a valuable resource for individuals and families facing genetic conditions. Learn more about the diverse roles of clinical, laboratory, and research genetic counselors at Lurie Children's.

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Lurie Children’s Hospital First in Illinois to Be Designated as a Rare Disease Center of Excellence by National Organization for Rare Disorders (NORD)

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Williams Syndrome: Symptoms, Diagnosis & Support

May is dedicated to increasing the understanding of Williams syndrome, fostering research interest for improved treatments, and further supporting patients and families.

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Philanthropy

Your support is vital in helping us continue to make a difference in the lives of patients and families. Lurie Children's relies on philanthropic funding to enhance its programs, services and research for children. To learn more, please e-mail the Ann & Robert H. Lurie Children’s Hospital of Chicago Foundation at foundation@luriechildrens.org or call 312.227.7500