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 have an active newborn screen follow up program for inborn errors of metabolism funded by a grant from the Illinois Department of Public Health (IDPH).

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

Meet the Team:

Giampietro, Philip, MD PhD FACMG
Professor and Chief, Section of Pediatric Genetics

Bhat, Gifty, MD, FACMG
Assistant Professor of Clinical Pediatrics

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

Dietitians
Krista Engen, MS, RD, LDN
James Daniel John, MS, RD, LDN
Jamie Ray, RD, LDN, CNSC

Genetic Counselors
Erin Falsey, MS, LCGC
Beatriz Menendez, MS, LCGC
Jessica Young, MS, LCGC
Alice Zalan, MS, LCGC

Medical Genetics Coordinator
Andie Jones

Accomplishments/Centers:

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

Arthrogryposis Grant (sub-award): Registry for Arthrogryposis: Epidemiology, Etiology, Intervention, and Genomics (Shriners Hospital; Philadelphia, PA)

Programs/Projects:

Illinois Department of Public Health Newborn Screening and Screening and Metabolic Services Grant (PI: Dr. George Hoganson)

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:

We treat inborn errors of metabolism, including disorders of amino and organic acid metabolism, urea cycle abnormalities, fatty acid oxidation disorders, peroxisomal disorders, and lysosomal storage disorders. We provide 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, and disorders that affect skin and integument.