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 single copy of a mutated LMNA gene can cause EDMD5-AD, and exome sequencing pinpoints the variant behind overlapping muscular dystrophy symptoms.
Scalp and facial lipomas, epibulbar dermoids and neurological signs such as seizures make up Haberland syndrome, which clinical criteria alone can miss.
Calcium signaling in neurons depends on RYR3; variants in that gene are tied to seizure susceptibility, and the page weighs what testing can and cannot tell families.
Part of the familial exudative vitreoretinopathy group, EVR5 disrupts retinal blood vessel development; CAPSL mutations and impaired MYC signaling are described.
Bleeding that is spontaneous or prolonged after injury follows F13B mutations; routine coagulation tests often look normal, so specific assays and gene testing are used.
Unstable clots lead to spontaneous bleeding, slow wound healing and heavy bleeding after surgery; F13A1 mutation testing supports diagnosis and prenatal decisions.
Persistent Candida infections of the skin, nails and mucous membranes trace back to STAT1 mutations that blunt immune signaling; testing guides diagnosis and monitoring.
Prolonged fever, jaundice and an enlarged liver and spleen can start in infancy with FHL5, a recessive disorder carrying a 25% risk per pregnancy for carrier parents.