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.
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.
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
Carolyn H. Jones, MD, ScD
Attending Physician, Genetics
Sarah C. Jurgensmeyer, MS, CGC
Genetic Counselor II, Cardiology
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
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
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
Elizabeth Leeth, MS, CGC
Genetic Counselor III, Genetics, Birth Defects & Metabolism
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.
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
Healthcare to Research: The Many Ways Genetic Counselors Help Patients and Families
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.