Ashleigh E. Schaffer, Ph.D. (she/her)

  • Associate Professor of Molecular and Medical Genetics, School of Medicine
  • Molecular and Medical Genetics Graduate Program, School of Medicine
  • Neuroscience Graduate Program, School of Medicine
  • Graduate Program in Biomedical Sciences, School of Medicine

Biography

Ashleigh E. Schaffer, Ph.D., is an Associate Professor in the Department of Molecular and Medical Genetics at Oregon Health & Science University, where she also directs an active research program in pediatric neurogenetics. She holds an adjunct appointment in the Department of Genetics and Genome Sciences at Case Western Reserve University, where she previously served as Assistant and Associate Professor and as Vice Chair for Education.

Dr. Schaffer earned her B.S. in Genetics from the University of Wisconsin–Madison and her Ph.D. in Biological Sciences from the University of California, Irvine, where she studied pancreatic cell fate specification under Maike Sander. She completed postdoctoral training at the University of California, San Diego and the Howard Hughes Medical Institute, first mentored by Joseph G. Gleeson and later co-mentored by Eugene Yeo, where she began applying human genetics and genomic approaches to pediatric neurological disease.

Dr. Schaffer's laboratory investigates the genetic causes and molecular mechanisms of pediatric neurological disorders, integrating human genetics, induced pluripotent stem cell and cerebral organoid modeling, next-generation sequencing, and animal disease models. Her work has identified and characterized disease genes including CLP1TOE1CTNNA2THOC6TTC5, and IER3IP1, with particular focus on tRNA and mRNA processing, RNA isoform balance, and secretory protein trafficking in neurodevelopmental and neurodegenerative disease. Her research is supported by funding from the NIH and other agencies and foundations.

Dr. Schaffer is an active member of the American Society of Human Genetics, where she serves on the Program Committee and has repeatedly chaired platform sessions at the Annual Meeting, and of the RNA Society. She serves as a standing member of the NIH Molecular Neurogenetics (MNG) study section and has reviewed for grant programs including the Wellcome Trust, UKRI Medical Research Council, NSERC, and the Harrington Discovery Institute Rare Disease Program. A CIMER-trained mentor and mentorship facilitator, she has mentored undergraduate (B.A./B.S.), master's, and graduate (Ph.D. and M.D./Ph.D.) trainees throughout her career.

Education and training

  • Degrees

    • Ph.D., 2010, University of California - Irvine
    • B.S., 2004, University of Wisconsin - Madison
  • Fellowship

    • Howard Hughes Medical Institute and University of California San Diego - Postdoc 2011-2016

Memberships and associations:

  • American Society of Human Genetics
  • RNA Society

Areas of interest

  • Pediatric neurogenetics
  • Human disease gene discovery
  • RNA biology and mRNA/tRNA processing
  • iPSC and organoid disease modeling
  • Protein trafficking and proteostasis in neurological disease
  • Neurodevelopmental and neurodegenerative disorders
  • Translational therapeutic development

Honors and awards

  • Mt. Sinai Foundation Scholar (nominated by the Dean of CWRU School of Medicine)
  • John D. Diekoff Award for Distinguished Graduate Student Mentoring (student nominated)
  • Center for the Improvement of Mentored Experiences in Research (CIMER) Trained Facilitator

Publications

Publications