The Division of Pediatric Genetics and Metabolism will continue to participate in clinical research in genetic basis of inherited disorders. Current and ongoing activities include development of new molecular techniques for use in newborn screening, clinical application of a protocol to evaluate an approach to the diagnostic evaluation of individuals with nonsyndromic cognitive impairment, and investigation of the underlying genetic causes of vertebral anomalies and idiopathic scoliosis.
Recent Publications
Mei Baker, MD – view all publications
April Hall, PhD, MS, CGC – view all publications
Patrice Held, PhD, FACMG – view all publications
Kim Keppler-Noreuil, MD – view all publications
Janet Legare, MD – view all publications
M. Stephen Meyn, MD, PhD – view all publications
Elizabeth Petty, MD – view all publications
Catherine Reiser, MS, CGC – view all publications
Robert Steiner, MD – view all publications
David Wargowski, MD – view all publications
Grant Support
| Faculty/Role | Funding Agency | Title |
|---|---|---|
| Baker, Mei Wang (co-PI) | UW Office of the Provost | Development and Implementation of Rapid Genetic Test to Improve Health Outcomes in Wisconsin Plain Newborns |
| Baker, Mei Wang (co-I) | Medical College of Wisconsin/CDC | Sickle Cell Data Collection Program in Wisconsin |
| Baker, Mei Wang (PI) with Farrell, Phillip M (co-PI) |
Legacy of Angels Foundation | Improving IRT/DNA Newborn Screening for Cystic Fibrosis to Reduce False Positives by a New Molecular Strategy |
| Baker, Mei Wang (PI) with Farrell, Phillip M (co-PI) and Rock, Michael J (co-I) |
Legacy of Angels Foundation | A Prospective Study of Newborn Screening for Cystic Fibrosis Using a Novel IRT/Next Generation Sequencing Method |
| Baker, Mei Wang (co-I) with Goetz, Elizabeth (co-I) and Hokanson, John S (PI) |
DHHS – HRSA | Wisconsin Congenital Heart Disease Newborn Screening Program – SHINE |
| Baker, Mei Wang; Laffin, Jennifer J; Rice, Gregory; Scott Schwoerer, Jessica A (collaborators) with Wald, Ellen (co-I) and Seroogy, Christine (PI) |
Wisconsin Partnership Program | Improved Health Care Delivery to Wisconsin Amish Infants |
| Meyn, Stephen M(PI) | UW OVCRGE/WARF | A critical tool for human genomics and precision medicine: De novo human genome assembly |
| Petty, Elizabeth M (co-I) with Remington, Patrick (PI); Navsaria, Dipesh (tier 3 director) |
DHHS – HRSA | Training in Primary Care Medicine-Interdisciplinary and Interprofessional Graduate Joint Degree Program |
| Petty, Elizabeth M (REC director) with Drezner, Marc (PI) |
NIH-NCATS | UW-ICTR |
| Rice, Gregory M (PI) | Wisconsin Dept of Health Services | Congenital Disorders Biochemical Genetics |
| Rice, Gregory M and Van Calcar, Sandra C (co-Is) with Ney, Denise (PI) |
DHHS-FDA | Phase 2 Study of Glycomacropeptide vs Amino Acid Diet for the Management of PKU |
| Scott Schwoerer, Jessica A (PI) | Michigan Public Health Institute | Inborn Errors of Metabolism Collaborative: Defining the Natural History of Inborn Errors of Metabolism |
| Scott Schwoerer, Jessica A (PI) Rice, Gregory M; Van Calcar, Sandra C (co-Is) |
Wisconsin Dept of Health Services | Congenital Disorders Program |
| Scott Schwoerer, Jessica A (PI) | Wisconsin Dept of Health Services | Special Dietary Contract State WI |
| Steiner, Robert (Co-I) | NIH/NHGRI | Linking Variants to Multi-scale Phenotypes via a Synthesis of Subnetwork Inference and Deep Learning” (2021-2026) |
| Steiner, Robert (Multiple PI) | NIH/NINDS | Development of N-tert-(Butyl)hydroxylamine (NtBuHA) as a therapeutic agent for treating Infantile Neuronal Ceroid Lipofuscinosis (INCL)” (2021-2023) |
| Wargowski, David S (PI) | Wisconsin Dept of Health Services | Congenital Disorders |
| Wargowski, David S (PI) | Wisconsin Dept of Health Services | Clinical Genetics Unit |