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.
Overactive immune cells cause severe inflammation and tissue damage; because the HLH-2004 criteria can miss cases, gene testing separates inherited from acquired disease.
Inherited gene mutations raise the risk of breast, ovarian and colon cancers, yet current genetic testing guidelines miss many of the people who carry them.
Delayed puberty, primary amenorrhea and infertility can signal hypergonadotropic hypogonadism. The page covers INHA and FSHR variants and the testing methods used.
Muscle weakness and, in severe cases, paralysis can follow a buildup of magnesium in the blood. Kidney function, intake and genetic testing are explained.
A faulty OAT gene leaves ornithine aminotransferase unable to clear ornithine, leading to gyrate atrophy and vision loss. Targeted and exome testing are compared.
PAH variants cut phenylalanine hydroxylase activity, letting phenylalanine build up in blood and brain. Newborn screening, diet and gene therapy are outlined.
Heavy bleeding and slow wound healing point to too little fibrinogen; sequencing of FGA, FGB and FGG names the mutation and supports carrier testing.
Abnormally high levels of the amino acid histidine are described alongside genetic testing that can pinpoint the responsible mutations, plus its costs and limits.