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 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) (PI: Dr. Philip F. Giampietro).
We also provide genetics education for pediatric house staff, medical students, and genetic counseling students.
Overview Heading link
Accomplishments
- 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 and 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)
- Baby’s First Test
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.
