• Anna C.E. Hurst, MD, MS, is an assistant professor of medical genetics in the department of genetics at the University of Alabama at Birmingham and an adjunct faculty member at the HudsonAlpha Institute for Biotechnology. She trained as a genetic counselor at the University of South Carolina School of Medicine (Columbia) and then completed her medical degree at the Medical University of South Carolina (Charleston). She is a board-certified pediatrician who completed pediatrics residency at Wake Forest Baptist Health (Winston-Salem, NC) and a medical genetics residency at UAB. Hurst is a clinician for the UAB Undiagnosed Disease Program, skeletal dysplasia clinic, and general genetics, and she provides genetic inpatient hospital consultations for patients at UAB and Children’s of Alabama. Her clinical interests include dysmorphology and congenital anomaly syndrome delineation, and she serves on the Scientific Advisory Board for Facial Dysmorphology Novel Analysis (FDNA). Her research focuses on expanding the availability of genomic sequencing for children with complex healthcare needs and incorporating phenotypic information into the interpretation of genomic data.
  • Selected Publications

    Academic Article

    Year Title Altmetric
    2020 Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy 2020
    2020 Clinical diagnosis through whole-genome sequencing 2020
    2020 Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome 2020
    2019 Editorial: Neonatal management of achondroplasia: One hospital's geosocial approach to improve patient outcomes 2019
    2019 RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature 2019
    2019 De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes 2019
    2019 Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion) 2019
    2018 Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: A case report 2018
    2018 De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay 2018
    2018 Unexpected Survivors: Children With Life-Limiting Conditions of Uncertain Prognosis 2018
    2018 Facial recognition software in clinical dysmorphology 2018
    2017 Extreme hypertriglyceridemia, pseudohyponatremia, and pseudoacidosis in a neonate with lipoprotein lipase deficiency due to segmental uniparental disomy 2017
    2017 Foramen magnum compression in Coffin–Lowry syndrome: A case report 2017
    2011 Autism in two females with duplications involving Xp11.22-p11.23. 2011


    Year Title Altmetric
    2018 The Genetic Evaluation of a Child With Cancer.  21-31. 2018

    Research Overview

  • Clinical genetics (general genetics, skeletal dysplasia, Turner syndrome, Undiagnosed Disease Program)
    Syndrome delineation
    Dysmorphology and advancing technologies
    Phenotype integration in genomic sequencing
    Care coordination for children with complex medical needs
  • Principal Investigator On

    Education And Training

  • Doctor of Medicine, Medical University of South Carolina 2011
  • Master of Science in Genetic Counseling / Counselor, 2007
  • Master of Science in Genetic Counseling / Counselor, University of South Carolina System : Columbia 2007
  • University of Alabama at Birmingham, Residency 2016
  • Wake Forest University Baptist Medical Center, Residency 2014
  • Unive, Postdoctoral Fellowship 2016
  • Full Name

  • Anna Hurst