MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
Brandon Colby is a physician-expert in the fields of genetic analysis and Personalized Preventive Medicine. He holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University's Graduate School of Business, and a degree in Genetics from the University of Michigan.
Dr. Colby is the author of the book Outsmart Your Genes and has developed numerous technologies that improve the analysis, interpretation, and actionability of genome sequencing data. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC).
Articles by Brandon Colby, MD are reviewed for accuracy by Sequencing's medical and scientific team. This page is for informational purposes and does not constitute medical advice.
Faulty VMAT2 protein leaves dopamine and serotonin poorly packaged for release, producing movement and mood symptoms; testing can pinpoint the mutation behind BDSVTD.
Enlarged lymph nodes with fever, weight loss and fatigue mark Castleman-Kojima disease, also called iMCD, which appears in unicentric and multicentric forms.
Irregular heart rhythms triggered by exercise or emotion mark CPVT, caused by mutations affecting calcium handling in heart cells that electrocardiograms can miss.
Where CMT1 damages the myelin sheath, CMT2 damages the nerve fibers themselves; whole exome sequencing has widened the list of variants tied to the disease.
Foot deformities, walking difficulty and loss of sensation often appear in childhood with CMT4, a recessive group that includes SBF1-related CMT4B3.
Mutations on the X chromosome, usually in GJB1 encoding connexin 32, underlie CMTX; males are mainly affected and female carriers can have milder symptoms.
Limited eye movement alongside weakness that begins in childhood defines CARME, which appears when a child inherits two copies of the mutated gene.
About 5% of renal cell carcinomas are chromophobe, marked by large pale cells with perinuclear halos; genetic profiling separates its small-cell variant.