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.
Variants in DNM1L, ATP5A1, VARS2 and SLC19A3 have been reported in this group of rare neurological disorders, and SLC19A3 defects may respond to thiamine supplementation.
Ketone transport falters when SLC16A1 is altered, and brain imaging may show white matter changes, cerebellar atrophy or brainstem hypoplasia in MCT1 deficiency.
Inheriting two altered copies of SLC16A1 limits the brain's use of ketone bodies, with developmental delay, seizures and ketoacidosis among the reported features.
Slower than expected crawling, walking and hand-eye coordination can have genetic roots; 1q21.1 microduplication and SRRM2 variants are among the findings reviewed.
Myosin-9 altered by MYH9 mutations leads to large platelets in low numbers, kidney disease and hearing loss, inherited in an autosomal dominant pattern.
Discover late-onset mitochondrial myopathy, its diagnosis process, and the crucial role of genetic testing in managing this rare genetic muscle disorder.
Mutations in TYMP reduce thymidine phosphorylase, leading to gut dysmotility, peripheral neuropathy and ophthalmoplegia in this autosomal recessive disorder.
CYP2A6 turns nicotine into cotinine, and variants that slow that step have been linked to higher quit rates in European ancestry populations.