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.
Family history, EEG and MRI narrow the picture, then DNA analysis of the potassium channel genes KCNQ2 and KCNQ3 confirms this autosomal dominant form of epilepsy.
Rapid growth in infancy, macrocephaly, advanced bone age and developmental delay point to this syndrome, and NSD1 testing confirms it and shapes management.
Delayed motor development, low muscle tone and ataxia often appear in infancy with SCA29; MRI may show cerebellar atrophy, and ITPR1 testing confirms the cause.
Mid-adulthood onset brings unsteady gait, clumsy fine motor tasks and slurred speech in SCA31; BEAN1 testing confirms it, and therapy options are set out.
HES7 mutations disturb how the vertebral column forms, leaving short stature, a short neck and limited spinal movement in SCDO5; imaging and DNA tests are compared.
Hyperpigmented and hypopigmented macules appear symmetrically on the hands and feet from childhood; biopsy and genetic testing separate SDE from similar skin disorders.
Twisting muscle contractions, speech difficulty and fine motor trouble often start in childhood. TUBB4A testing confirms DYT4, which is inherited autosomal dominantly.
Genetic testing pinpoints Trichothiodystrophy 5, nonphotosensitive, aiding in accurate diagnosis, tailored treatments, family planning, and research advancements.