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.
Childhood onset and gradual worsening mark ARNSHL25, traced in an Iranian family to a novel splice site mutation in RDX, a gene active in the inner ear.
Mutations in GJB2 and GJB6, which encode connexin 26 and connexin 30, underlie the sensorineural hearing loss of ARNSHL77, studied here in Iranian families.
Sound vibrations become electrical signals only when cochlear hair cells form a proper stereociliary coat; PKHD1L1 mutations disrupt that step and cause ARNSHL79.
Proteins involved in auditory function lose stability when PKHD1L1 is mutated, which is how ARNSHL84A arises in people who inherit two copies of the change.
Short stature, kyphoscoliosis and metaphyseal changes in the long bones mark ARSMD-MT. A confirmed mutation supports orthopedic care and carrier testing.
Chronic diarrhea, abdominal pain and weight loss follow poor bile acid absorption in BAM1. AKR1D1 findings, diagnosis and family planning questions are covered.
Missing Birbeck granules in Langerhans cells can leave people prone to infections and skin rashes. Diagnostic and predictive gene testing and current care are covered.
Once mistaken for pseudopseudohypoparathyroidism, Brachydactyly type E2 was traced in one family to a novel PTHLH mutation through whole exome sequencing.