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.
Cells with abnormal chromosome numbers, microcephaly and developmental delay mark MVA2, a syndrome caused by CEP57 mutations; a novel splice site variant is described.
Whole-exome sequencing has pointed to genetic causes and modifiers of moyamoya disease 5, in which fragile vessels form as arteries at the base of the brain narrow.
Unravel MCAHS1's genetic complexities with insights into early detection, personalized care, and genetic counseling, fostering hope through advanced testing.
An autosomal recessive fault in mitochondrial function can cause neuroregression, muscle weakness and developmental delay; genetic testing helps confirm MMDS2.
One altered copy of the gene is enough to cause Myopia 21, an early-onset form of nearsightedness that often progresses rapidly if it is not managed.
Beyond -6.00 diopters, nearsightedness is classed as high myopia and carries added risk of lens clouding and retinal change; genetic markers help target monitoring.
Genetic testing uncovers myostatin-related muscle hypertrophy, aiding early diagnosis, personalized health management, and family planning for optimal outcomes.
Changes in the SLC25A12 gene impair a mitochondrial carrier needed to make NAA, leading to infantile seizures, abnormal myelination and delayed development.