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:
- Multispecialty physician consultations with the patient and family
- Genetic screening and diagnostic testing
- Genetic counseling for people who may be at risk of an inherited disease or abnormal pregnancy
- Full-service, state-of-the-art laboratory testing
- Nutritional services for metabolic disorders such as phenylketonuria (PKU)
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.
Genetic, Genomic & Metabolic Treatment Programs
We participate in several multidisciplinary programs to help diagnose and treat children with genetic and congenital conditions.
- Cancer Predisposition Program
- Cardiovascular Genetics Center
- Connective Tissue Disorders Program
- Genetic Counselors & Genetic Counseling
- Kidney Genetics Program
- Leukodystrophy Care Program
- Mucopolysaccharidoses & Mucolipidoses Treatment Program
- Neurofibromatosis Program
- Pharmacogenomics Program
- RASopathy Program
- Thyroid Program
- Trisomy 9 Mosaic (T9M) Syndrome and Chromosome 9 Program
- Turner Syndrome Program
- Williams Syndrome Program
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.
- 22q11.2 Deletion Syndrome
- Cardiofaciocutaneous Syndrome (CFC)
- Costello Syndrome
- Ehlers-Danlos Syndrome
- Fabry Disease
- Gaucher Disease
- Klinefelter Syndrome
- Kyphoscoliotic Ehlers-Danlos Syndrome (kEDS)
- Leukodystrophy
- Marfan Syndrome
- Metabolic Disorders
- Mosaic RASopathies
- Mucopolysaccharidoses
- Neurofibromatosis
- Noonan Syndrome
- Noonan Syndrome with Multiple Lentigines
- Phenylketonuria (PKU)
- Pompe Disease
- Skeletal Dysplasia
- Vascular Ehlers-Danlos Syndrome (VEDS)
- Williams Syndrome
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:
- Advanced practice providers
- Genetic counselors
- Nutritionists
- Social workers
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; Medical Director; Cellular and Gene Therapy Program; Valerie and George D. Kennedy Research Professorship in Human Molecular Genetics

Joshua Baker, DO, 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

Sara Cherny, MS, CGC
Genetic Counselor III, Cardiology

Jalen Clemmons, LMSW
Social Worker, Genetics, Genomics & Metabolism

Lenika De Simone, MS, CGC
Genetic Counselor II, Neurology

Krystal J. Fernandez, MS, CGC
Genetic Counselor I, Genetics, Genomics and Metabolism

Kelsey Hogan, MS, CGC
Genetic Counselor II, Genetics, Genomics and Metabolism

Alexander Ing, MS, CGC
Genetic Counselor III, Genetics, Genomics and Metabolism

Carolyn H. Jones, MD, ScD
Attending Physician, Genetics

Sarah C. Jurgensmeyer, MS, CGC
Genetic Counselor II, Cardiology

Mickey Kuo, MD
Attending Physician, Genetics, Genomics and Metabolism
Gurnoor K. Lail, MD
Attending Physician, Genetics, Genomics and Metabolism

Mindy H. Li, MD
Attending Physician, Genetics, Genomics and Metabolism

Erin McGinnis, MS, CGC
Genetic Counselor II, Neurology

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

Juan P. Ramos, DO
Attending Physician, Genetics, Genomics and Metabolism

Kelly E. Regan-Fendt, MD, PhD
Attending Physician, 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

Kristin Clemenz, MS, CGC
Genetic Counselor III, Hematology, Oncology, Neuro-Oncology & Stem Cell Transplantation

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

Jelena Ivanisevic, MS, CGC
Genetic Counselor I, Neurology

Monika D. Izdebski, MS, CGC
Genetic Counselor I, Genetics, Genomics and Metabolism; Lysosomal Storage Disorder Fellow

Elizabeth Leeth, MS, CGC
Genetic Counselor III, Genetics, Birth Defects & Metabolism

Shelly McQuaid, MS, CGC
Genetic Counselor III, Genetics, Genomics and Metabolism; Polsky Family Genetic Counselor

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

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.
Our Locations
Ann & Robert H. Lurie Children's Hospital of Chicago
225 E. Chicago Ave.
Chicago, Illinois 60611
312.227.4000
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
Lurie Children's at Northwestern Medicine Central DuPage Hospital Pediatric Outpatient Center
25 N. Winfield Road
East Entrance
Winfield, Illinois 60190
630.933.6631
Lurie Children’s Hospital Outpatient Center in Skokie
3722 W. Touhy Avenue
Skokie, Illinois 60076
312.227.5600
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
Genetics News & Stories

How Genetic Counselors Help Families: From Pediatric Care to Research
Genetic counselors are experts in genetics and how it impacts our health and development. Learn more about who they are, what they do and how they may help you and your family.

Lurie Children’s to Develop a Novel Genomic Test for More Rapid Precision Diagnosis of Brain Tumors
Lurie Children’s was awarded $3.7 million through the National Cancer Institute Cancer Moonshot Scholars program to advance precision diagnosis of brain tumors in children.

What Parents Need to Know About Newborn Screening
Newborn screening can help keep babies healthy and identify health conditions early. Learn more about these tests and what to expect.

Lurie Children's and the 22q Family Foundation Host 22q Family Day at Brookfield Zoo Chicago
Over 200 patients, friends and family enjoyed the first annual 22q Family Day at Brookfield Zoo Chicago, sponsored by the 22q Family Foundation and Lurie Children’s on Sunday May 19, 2024.

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.

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.
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.