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.
Doyne Honeycomb Retinal Dystrophy (DHRD), also known as Malattia Leventinese, is a rare, inherited eye disorder that affects the retina's ability to process light.
Miswiring of the sixth cranial nerve limits outward eye movement and can retract the eyeball; most cases are sporadic, though CHN1 mutations have been identified.
One altered copy of TERC or TERT is enough to cause this form, which brings abnormal pigmentation, nail dystrophy, leukoplakia and a risk of bone marrow failure.
Dyslexia susceptibility 1 is a subtype with a hereditary component that can run in families. Diagnosis pairs reading and phonological tests with family history.
Also called Rapid-Onset Dystonia-Parkinsonism, this ATP1A3 disorder starts abruptly after physical or emotional stress, with bradykinesia and speech difficulty.
Marked improvement on low doses of levodopa sets this condition apart; GCH1 testing confirms it after walking difficulty, stiffness and involuntary movements appear.
Microtia leaves one ear underdeveloped and aural atresia closes its canal, affecting hearing and language; physical exams, CT or MRI imaging and DNA testing are covered.
Symptoms usually start in one limb during childhood and spread; identifying a DYT1 mutation supports the diagnosis and points toward deep brain stimulation.