Pediatric Genetics

We provide state-of-the-art diagnostic and clinical evaluation services and treatment for children and adults who have birth defects and genetic disorders. Services also include: genetic counseling; carrier testing; and prenatal diagnosis for prospective parents. We have an on-site comprehensive diagnostic biochemical and molecular genetics laboratory to provide fast, reliable diagnosis and treatment.

We provide genetics education for pediatric house staff, medical students and genetic counseling students.

Meet the Team:

Clinical Geneticist
Philip Giampietro MD PhD FACMG
Section Chief, Genetics and Metabolism
Professor of Pediatrics

George Hoganson, MD
Director of Biochemical Genetics and Metabolism
Chief, Division of Genetics
Associate Professor of Pediatrics and Pathology

Gifty Bhat MD FACMG
Assistant Professor of Pediatrics

Advanced Nurse Practitioners
Christine Horne, MSN, APRN, CPNP-PC
Lauren Warn, MSN, APRN, FNP-BC

Nutritionists
Krista Engen, MS, RD, LDN
Katherine Ingle, RD, LDN, CNSC
Shannon O’Brien, MS, RD, LDN
Jamie Ray, RD, LDN, CNSC

Genetic Counselors
Katherine Cobian, MS, LLGC
Beatriz Menendez, MS, LLGC
Alice Zalan, MS, LLGC

Medical Genetics Coordinator
Andie Jones

Accomplishments/Centers:
NIH Grant: Functional Analysis of Whole Exome Sequence Variants Identified in Patients with Vertebral Malformations (R03, PI Philip F. Giampietro MD PhD)

Arthrogryposis Grant (sub-award): “Registry for Arthrogryposis: Epidemiology, Etiology, Intervention, and Genomics”

Programs/Projects:
Illinois Department of Public Health Newborn Screening and Screening and Metabolic Services Grant, PI – George Hoganson, MD

Outreach Programs to Peoria, Naperville, Springfield, Stroger Hospital, and Shriners Hospitals

UIC Genetic Counselor Outreach for Adult Cardiogenetics, Adult Neurology MDA/ALS clinics, and Pediatric Craniofacial clinic

UIC Specialized Care for Children: DSCC- https://dscc.uic.edu/

Baby’s First Test https://www.babysfirsttest.org/

What We Treat:
Inborn Errors of Metabolism including disorders of amino and organic acid metabolism, urea cycle abnormalities, fatty acid oxidation disorders, peroxisomal disorders, lysosomal storage disorders, follow up on newborn screen abnormalities for inborn errors of metabolism.
We offer nutrition services for patients with metabolic disorders.
We are a diagnostic and consultation center for children with birth defects, intellectual disability, connective tissue disorders, neurogenetic disorders, craniofacial disorders, skeletal dysplasias, ophthalmologic disorders, disorders that affect skin and integument