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Catherine A. Stolle , PhD

Director, Molecular Genetics Laboratory

Adjunct Associate Professor, Perelman School of Medicine at the University of Pennsylvania

Catherine A. Stolle is a board certified clinical molecular geneticist with 25 years of experience in the biochemistry and molecular biology of genetic disease as both a basic researcher and a molecular diagnostic lab director. Her research interests have been in genetic disorders of collagen, particularly Ehlers-Danlos syndrome type IV, and molecular mechanisms underlying beta thalassemia.

More recently, her clinical interests have included the molecular diagnosis of craniosynostosis syndromes (Crouzon, Pfeiffer, and Saethre-Chotzen syndromes) and heritable kidney cancers (von Hippel-Lindau, hereditary papillary RCC, hereditary leiomyomatosis and RCC, and Birt-Hogg-Dube). In collaboration with Dr. W. Marston Linehan at the National Cancer Institute, these later efforts have resulted in the detection of virtually 100% of mutations in patients with clinically proven VHL (Stolle et al, 1998) and the first well characterized cases of mosaicism for VHL gene mutations (Sgambati et al., 2000).

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