Case Studies in Genetics

Moderator(s)

• 

  Sara Akhavanfard, MD, PhD, FACMG

  Assistant Professor of Pathology / Lab Director
  Case Western Reserve University / University Hospitals
  Cleveland, Ohio, United States
• 

  Eli Williams, PhD

  Associate Professor of Pathology, Director of Clinical Genomics and Cytogenetics
  University of Virginia
  Charlottesville, Virginia, United States

Presentations:

• 7:00 AM – 7:15 AM PST

  Novel FANCD2 Variant Leading to Somatic Rescue in a Patient With Fanconi Anemia
  

  Case Presenter: Poorva Singh, MD, MBA (she/her/hers) – University of Minnesota
• 7:15 AM – 7:30 AM PST

  Incidental Discovery of a Sex Chromosome Disorder During Somatic Testing in a Phenotypically Male Lung Cancer Patient: A Multidisciplinary Dilemma
  

  Case Presenter: Michael Christensen, MD (he/him/his) – Hospital of the University of Pennsylvania
• 7:30 AM – 7:45 AM PST

  Multimodal Approach for the Diagnosis of Placental Mesenchymal Dysplasia
  

  Case Presenter: Nakul Shankar, MD (he/him/his) – University of Colorado Anschutz Medical Campus