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.
COL2A1, COL11A1 and COL11A2 mutations alter collagen in Stickler syndrome, affecting vision, hearing, joints and facial structure as the condition progresses.
The HAVCR2Y82C mutation appears in about 51% of cases of subcutaneous panniculitis-like T-cell lymphoma and is tied to younger onset and shorter relapse-free survival.
A rare, aggressive leukemia of mature T-cells, T-PLL involves ATM rearrangements, JAK/STAT mutations and TP53 changes; alemtuzumab is the current frontline therapy.
Too little ADAMTS13 enzyme lets small clots form throughout the body in the congenital form. Testing the ADAMTS13 gene confirms cTTP and guides treatment choices.
A pear-shaped nose, thin hair and finger abnormalities characterise TRPS. The milder type I is contrasted with type III, or Sugio-Kajii syndrome, and TRPS1 mutations.
Several genes can cause this autosomal recessive combination of hearing loss and retinitis pigmentosa; a South Florida cohort shows how the spectrum varies.
Inflamed blood vessels can damage skin or whole organs. TREX1 variants studied in thrombotic microangiopathy and IgA nephropathy suggest new therapeutic targets.
Platelets fail to clump properly when von Willebrand factor is missing or faulty, and symptoms run from mild nosebleeds to severe bleeding episodes.