Bio

She is passionate about utilizing health technology to improve the diagnostic odyssey for patients with rare and complex diseases. Her core focus areas include EHR workflow optimization, empowering providers on how to safely utilize AI to generate patient materials to bridge gaps in health literacy, and establishing precision guardrails for the ethical use of AI in genomic medicine.

Clinical Focus

  • Fellow
  • Medical Genetics

Honors & Awards

  • Phi Beta Kappa, Florida State University (2016)
  • Mentored Research and Creative Endeavors Grant, Florida State University (2014)
  • Good Catch Award, Rush University Medical Center (2022)

Boards, Advisory Committees, Professional Organizations

  • Member, American Medical Informatics Association (2025 - Present)
  • Member, American College of Medical Genetics and Genomics (2023 - Present)
  • Member, American Academy of Pediatrics (2020 - Present)

Professional Education

  • Fellowship, Stanford University, Clinical Informatics (2027)
  • Fellowship, Stanford University, Medical Genetics (2025)
  • Residency, Rush University, Pediatrics (2023)
  • MD, Herbert Wertheim College of Medicine, Florida International University (2020)
  • BS, Florida State University, Biology and Psychology minors: Mathematics and Chemistry (2016)

Links

All Publications

  • Transient Neonatal Zinc Deficiency due to Maternal Variants in SLC30A2: An Emerging and Atypical Candidate Gene for Maternal Carrier Screening. American journal of medical genetics. Part A Carter, C., Luz, D., Smith, E. E., Scott, S. A., Srinivas, N. S., Shi, R. Z., Tise, C. G. 2026: e70131

    Abstract

    Transient neonatal zinc deficiency (TNZD) is a genetic condition that presents with dermatitis, alopecia, diarrhea, and growth faltering in breast milk-fed infants of females with a heterozygous pathogenic variant in SLC30A2, the primary zinc transporter in mammary glands. Despite being an easily treatable condition, effectively evaluating for TNZD can be challenging because the infant's genotype does not reliably reflect the mother's genotype. Herein, we present our approach to diagnosis in an exclusively breastfed 5-month-old infant with treatment-refractory eczematous rash, admitted for growth faltering and decreased serum zinc and alkaline phosphatase levels. The infant was diagnosed with TNZD via trio genome-based exome sequencing after a heterozygous SLC30A2 variant of uncertain significance (VUS) (c.927G>C; p.Trp309Cys) was identified in the proband's mother, which was notably absent in the proband. Breast milk zinc concentration ([Zn]) was measured in duplicate via inductively coupled mass spectrometry in 10 samples (3 from the proband's mother and 7 from unrelated controls) and measured -265, -144, and -46 μg/dL below expected [Zn] at 0, 5, and 7 months postpartum, respectively, compared to an average deviation of -29 μg/dL in controls. Zinc supplementation in the infant led to rapid clinical improvement. The absence of the maternal SLC30A2 variant in the proband underscores diagnostic challenges in evaluating for TNZD, as primary variant analysis is typically limited to the proband in trio testing. Though the prevalence of SLC30A2 disease-causing variants is unclear, carrier screening may provide a unique opportunity to proactively identify females with known pathogenic SLC30A2 variants that would impart risk to their future breastfed children and breast milk recipients.

    View details for DOI 10.1002/ajmg.a.70131

    View details for PubMedID 41866816