Erin Huggins

I entered the Molecular Genetics and Microbiology program in 2024 and rotated through the San Roman, Crawford, and Kishnani labs during my first year. Each rotation was a wonderful learning experience and at the end of my third rotation, I opted for a co-mentorship between Dr. Gregory Crawford and Dr. Priya Kishnani.

Current Duke Appointments & Affiliations

Student Molecular Genetics and Microbiology, Basic Science Departments

Recent Scholarly Works

Early enzyme replacement therapy in late-onset Pompe disease diagnosed by newborn screening.

Journal article Mol Genet Metab · June 2026 OBJECTIVE: Newborn screening (NBS) now allows for early detection and clinical monitoring in infants and children with late-onset Pompe disease (LOPD), potentially identifying those needing early enzyme replacement therapy (ERT). Early symptom onset has be ... Full text Link to item Cite

Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants.

Journal article J Bone Miner Res · March 2, 2026 Hypophosphatasia (HPP) is the rare metabolic disorder caused by variants in the ALPL gene, resulting in deficient activity of tissue-nonspecific alkaline phosphatase (ALP). This leads to accumulation of substrates contributing to impaired bone mineralizati ... Full text Open Access Link to item Cite

Early Detection in Action: Developing and Refining Newborn Screening for Pompe Disease in North Carolina

Preprint · 2026 Pompe disease, a lysosomal disease, was added to the Recommended Uniform Screening Panel in 2015, and it has been included in the newborn screening (NBS) panel in North Carolina (NC) since February 2023. Across the world, the approach to NBS for Po ... Full text Cite

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