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.
Passed on in an autosomal dominant pattern, CSNB-D is assessed with visual acuity and color vision tests and electroretinography before genetic testing confirms it.
Electroretinography shows the retinal changes behind congenital stationary night blindness, while carrier and prenatal testing clarify how it runs in a family.
Cloudy corneal deposits cause pain and light sensitivity. Slit-lamp exams, topography and OCT come first, then testing names the dominant corneal dystrophy type.
Whether dominant or recessive, corneal dystrophy builds abnormal material in the cornea; testing confirms the type, flags at-risk relatives and informs family planning.
Two copies of a mutated gene are needed for recessive corneal dystrophy; OCT and confocal imaging show the deposits, and a blood or saliva sample confirms it.
Affecting roughly 1 in 2,000 to 2,500 births, craniosynostosis with no known cause is assessed by exam and imaging, with testing to rule a syndrome in or out.
Loss of the cathepsin C enzyme underlies Papillon-Lefevre syndrome, Haim-Munk syndrome and aggressive periodontitis, the conditions grouped as CTSC-related disorders.
An inherited CDKN2A mutation carries a 50% chance of passing to a child and raises melanoma risk, making skin exams, dermoscopy and sun protection part of follow-up.