Our Science – Nickerson Website
Michael L. Nickerson, Ph.D.
Dr. Nickerson has made significant contributions to the identification and characterization of disease genes. He is first author of a seminal paper characterizing mutations in the Birt-Hogg-Dube gene in patients with Birt-Hogg-Dube Syndrome, inherited pneumothorax, and chromophobe kidney cancer; and co-authored papers describing BHD mutations in Nihon rats with kidney cancer and canines with renal cystadenoma and nodular dermatofibrosis. He identified mutations in the UBIAD1 gene in patients with Schnyder Corneal Dystrophy (SCD) and published a series of papers describing mutations in over 50 SCD families, UBIAD1 structure and function, and binding partners. He co-authored discovery of the dead-end gene mutated in the 'Ter' (teratoma) mouse model of testicular cancer and of mutations in the fumarate hydratase gene in leiomyomatosis and papillary kidney cancer. Key to these discoveries was the development of high throughput and sensitive mutation detection methods. In 2008, as Director of the Genome Research Division at Transgenomic, Inc., Dr. Nickerson exhaustively characterized somatic alterations of the von Hippel-Lindau gene in kidney tumors as part of an international epidemiology study, and correlated Kras and EGFR mutations in lung tumors from patients in clinical trials with response to targeted therapy (Avastin, Genentech). He was an early adopter of Next Generation Sequencing and Dr. Nickerson has performed whole genome, transcriptome, and exome sequencing of urologic tumors using Illumina, 454, SOLiD, Helicos, PacBio, and Ion Torrent platforms. These studies have resulted in the identification of genes mutated at high frequencies in prostate, kidney, and bladder cancers that are involved in creating, sensing, and erasing DNA and chromatin epigenetic modifications. Current efforts include correlating somatic mutations with patient history and clinical measures of disease, examining gene-gene interactions, and matching gene mutations with targeted therapeutics to improve patient response to treatment.
View the video highlight (No. 14) created by Dr. Nickerson to accompany his recently published Human Mutation paper entitled, 'The UBIAD1 Prenyltransferase Links Menaquione-4 Synthesis to Cholesterol Metabolic Enzymes'.
This page was last updated on 3/5/2014.