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.
GATA3 mutations cut parathyroid hormone output, giving hypocalcemia with sensorineural deafness and renal disease, inherited in an autosomal dominant pattern.
Too little parathyroid hormone leaves blood calcium low, causing muscle cramps and seizures. GCM2 mutations confirm the diagnosis and inform treatment.
Skin that blisters and scales from birth is easily mistaken for other ichthyoses; a KRT2 mutation confirms Ichthyosis Bullosa of Siemens and guides counseling.
Thickened skin on the palms and soles alongside localized scaling suggests this rare disorder, and a frameshift truncation in KRT1 separates it from similar ichthyoses.
An exaggerated IgE response drives asthma, allergic rhinitis and atopic dermatitis; variants in IL-4, IL-13 and filaggrin help explain who is predisposed.
A single copy of a mutated gene can leave a person unable to feel pain while touch, temperature and pressure stay normal; SCN9A and SCN11A testing confirms CIP.
PUS3 mutations lower pseudouridine levels in RNA, the change behind FRA12A type intellectual disability. Carrier testing and prenatal testing are both described.
Multiple adenomas in the pancreatic islet cells disturb insulin output, bringing hypoglycemia and diabetes; the TALK-1 L114P mutation is one identified cause.