Marzia Pasquali, PhD

Marzia Pasquali, PhD, FACMG

Section Chief: Biochemical Genetics

Medical Director: Biochemical Genetics and Newborn Screening


  • Doctorate Degree—Pharmaceutical Chemistry and Technology, University of Parma School of Pharmacy
  • Doctorate Degree—Pharmacy, University of Parma School of Pharmacy
  • Fellowship—Chemistry, Emory University
  • Fellowship—Biochemical Genetics, Emory University


  • America Board of Medical Genetics (Clinical Biochemical Genetics)
  • Society for Inherited Metabolic Disorders
  • American College of Medical Genetics and Genomics

Research Interests

  • Newborn screening
  • Lysosomal storage disorders
  • Disorders of carnitine and creatine metabolism and transport