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.
A mutation in CAVIN1/PTRF disrupts caveolae in the cell membrane and underlies the fat loss, muscular hypertrophy and metabolic problems reported in CGL4.
Muscle cells lose stability when integrin alpha-7 is missing, bringing hypotonia, delayed motor milestones and progressive weakness; ITGA7 testing pins down the cause.
Lamin A and C proteins of the nuclear envelope are altered here, producing muscle weakness, joint contractures, spinal rigidity and cardiac risks worth monitoring.
Bleeding after minor injury, nosebleeds and heavy periods follow low PAI-1. SERPINE1 changes pass on recessively, and testing identifies carriers and affected people.
A study of 59 patients found 65 variants in CSNB1C, alongside high myopia and strabismus; the condition impairs dim-light vision without worsening over time.
Glare, halos and blurred vision on waking worsen over time; the page weighs genetic markers for early FECD diagnosis against DSAEK and DMEK surgery for advanced disease.
Donor tissue replaces the failing endothelial layer in DSAEK and DMEK, while genetic testing can flag Fuchs endothelial corneal dystrophy risk before symptoms appear.
TCF4 mutations confirm this Fuchs endothelial corneal dystrophy subtype before symptoms appear, and some markers may signal a faster course, helping time DSAEK or DMEK.