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.
Grant Support
| Faculty/Role | Funding Agency | Title |
|---|---|---|
| Baker, Mei Wang (co-PI) with Seroogy, Christine (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) | CDC | Implementing newborn screening for X-linked adrenoleukodystrophy and streamlining two-tier testing algorithm in tandem mass spectrometry (2022-2024) |
| Baker, Mei Wang (co-I) | Medical College of Wisconsin/CDC | Sickle cell data collection program in Wisconsin |
| Baker, Mei Wang (PI) with Farrell, Phillip (co-PI) |
Legacy of Angels Foundation |
Assessing the added value of whole genome sequencing in Cystic Fibrosis newborn screening
|
| Baker, Mei Wang (PI) | CDC | Supplemental funding to expedite public health implementation of newborn bloodspot screening to detect Spinal Muscular Atrophy (2020-2024) |
| Baker, Mei Wang (co-I) with Goetz, Elizabeth (co-I) and Hokanson, John (PI) |
DHHS – HRSA | Wisconsin congenital heart disease newborn screening program – SHINE |
| Baker, Mei Wang (PI) | Ultragenyx Pharmaceutical Inc. |
Development of a newborn screening assay for Angelman Syndrome
|
| Baker, Mei Wang; with Wald, Ellen (co-I) and Seroogy, Christine (PI) |
Wisconsin Partnership Program | Improved health care delivery to Wisconsin Amish infants |
| Meyn, M. Stephen (PI) | UW OVCRGE/WARF | A critical tool for human genomics and precision medicine: De novo human genome assembly |
| Petty, Elizabeth (PI) | American Medical Association Foundation | Advancing care and optimizing health in the LGBTQ+ community: Focus on primary care and health equity (2021-2025) |
| 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 (PI) | Wisconsin Dept of Health Services | Wisconsin congenital disorder/newborn screening program |