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.
Next Generation Sequencing pinpoints the telomere maintenance mutations behind PF-BMF-TR4, though cost, access and result interpretation remain practical hurdles.
Usually inherited in an autosomal recessive pattern, RP71 brings night blindness and then peripheral vision loss. Testing names the variant and guides care.
Early identification of ABCA4 mutations, described in Israeli Jews of Ethiopian ancestry, lets RP72 monitoring start sooner and informs genetic counseling.
Symptoms usually start in childhood or adolescence with night blindness and a shrinking visual field. A blood or saliva sample can identify the RP73 mutation.
Rod and cone photoreceptors deteriorate gradually in RP74. Targeted sequencing found mutations in 74% of macular and cone/cone-rod dystrophy patients studied.
Confirming a diagnosis, prenatal and newborn screening, and options such as PGD are the main uses of testing in RCDP5, which shortens limbs and causes cataracts.
Nephronophthisis progressing to kidney failure and retinal degeneration overlap with other ciliopathies, so identifying the causative mutation sharpens the diagnosis.
FGFR3 mutations underlie the short stature, developmental delay and dark velvety skin patches seen in SADDAN, and testing can confirm it early.