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.
Recurrent seizures, cortical blindness, developmental delay and a shrinking head size define PMSCBDDS; genetic testing separates it from similar disorders.
Muscle weakness in the shoulders, upper arms and lower legs worsens over time in this distal myopathy, and GNE variants found in Nonaka patients help confirm it.
Bone marrow that makes too few platelets, alongside fused radius and ulna bones, marks RUSAT-2. MECOM gene mutations are a known cause that testing can confirm.
Vitamin supplements, low vision aids and lifestyle changes make up much of RP75 care, while a genetic result reveals the inheritance pattern and trial matches.
Hypomorphic mutations in TRNT1, a gene involved in tRNA synthesis, tie progressive retinal degeneration to unusually small red blood cells and anemia.
Growth retardation, immune deficiency and skeletal anomalies make this congenital disorder hard to recognize. One case presented as non-ischaemic cardiomyopathy.
Part of the primordial dwarfism group, this syndrome traces to CEP152, a gene involved in cell division and DNA repair. Testing separates it from similar disorders.
Macrocephaly, scoliosis and seizures appear alongside intellectual disability, muscular hypotonia and renal dysfunction in this rare, multi-system genetic disorder.