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.
Discover the importance of genetic testing in diagnosing Aborted Sudden Cardiac Death (ASCD) and its underlying causes, aiding in targeted treatment and identifying at-risk…
Variants in NR5A1 affect the adrenal glands and gonads, so adrenal insufficiency can appear alongside differences of sex development; exome sequencing finds the cause.
Corneal opacities, iris hypoplasia and glaucoma appear across ASD1 subtypes, where exome sequencing points to variants in PAX6, PITX2, FOXC1 and COL4A1.
BMP4, GJA8 and CRYGC are among the genes behind ASD5, a condition that can present with microphthalmia, corneal opacities and developmental glaucoma.
Sequencing found causative variants in 24 of 100 unresolved inherited retinal disease cases and diagnosed high myopia in 20% of one study group.
Inflammation, neovascularization and retinal detachment mark this CAPN5-linked eye disorder. Tractional retinal detachment is named as a severe vision risk.
Some people detect this bitter plant compound and others cannot, a split shaped by taste bud development and Wnt-beta-catenin signaling and checked by taste testing.
Pupils that stay dilated from birth can bring light sensitivity and vision problems. An eye exam starts the work-up, and genetic testing can identify the mutation.