Anna Mitchell

Anna Mitchell, MD, PhD, is an Associate Professor at Case Western Reserve University School of Medicine in the Department of Genetics and Genome Sciences. She serves as Interim Director and Medical Director of the Center for Human Genetics. Her research focuses on Classical Ehlers-Danlos Syndrome (cEDS), particularly mutations in COL5A1 and COL5A2 genes.

• Education:
  • Biochemistry, Swarthmore College
  • MD-PhD, University of Michigan
  • Pediatrics Residency, Children's Hospital Seattle
  • Medical Genetics Fellowship, University of Washington

Her research examines type V collagen mutations in cEDS, focusing on genotype-phenotype correlations, alternative splicing mechanisms, and mRNA expression dynamics. She investigates variable clinical manifestations including joint hypermobility, skin extensibility, and cardiovascular complications.

Recent publications span microbiome genomics (Nature, 2019), pregnancy-related genomics (Nat Commun, 2022), and collagenopathy mechanisms. Key themes include genetic disease modeling, translational medicine, and clinical genomics.

• Leadership:
  • Interim Director & Medical Director, Center for Human Genetics
  • Primary Faculty, Genetics and Genome Sciences Department