Carolyn Sue Richards

The focus of my clinical research laboratory is development of sequence-based testing for rare disorders, development of custom analysis to address copy number variants, design of algorithms using analysis tools for interpretation of sequence variations, and translation of these products into clinical practice.

Prior to joining OHSU I have a long-standing history of research collaborations translating into sequence-based clinical testing for numerous rare genetic disorders, including Lynch syndrome, familial adenomatous polyposis, Rothmund Thompson syndrome, Li-Fraumeni syndrome, X-linked ocular albinism, and Duchenne/Becker muscular dystrophy. My laboratory here has developed strong collaborations with OHSU researchers, including the Hayflick laboratory, resulting in the translation of testing for Pantothenate Kinase Associated Neuropathy and Infantile Neuroaxonal Dystrophy into the Molecular Diagnostic Center at OHSU. In addition, collaborations with the Grompe laboratory and the Olson laboratory have resulted in the introduction of clinical molecular testing for multiple Fanconi Anemia genes and generated a research project focused on understanding the mechanism of mosaicism through molecular studies.

For rare disorders that require sequence analysis, additional technologies are required to assess copy number variants. We are working toward developing custom microarray analysis to compliment our sequence analysis. In addition, we plan to develop custom targeted oligonucleotide microarrays for resequencing analysis of rare disorders, syndromes associated with multiple genes, and inherited cancer genes. We have established a collaboration with the OHSU microarray core for this project.

A major challenge in sequence-based diagnostics is defining the biological and functional significance of novel sequence variants. We are addressing this challenge through a project that evaluates multiple predictive analysis software tools to assess variants of unknown clinical significance, with the goal of defining a master algorithm that will have clinical utility. We are currently collaborating with OHSU Bioinformatics group on developing this project.

Additional interests of our laboratory include development and assessment of pharmacogenetic testing. In particular, we are collaborating with Kaiser investigators on an OCTRI-funded project to genotype breast cancer patients treated with tamoxifen.