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.
Intermediate nerve conduction velocities set CMT-DIF apart, and mutations in the pleckstrin homology domain of dynamin 2 were identified as a cause.
Bi-allelic KCTD11 mutations cause this recessive intermediate form of Charcot-Marie-Tooth disease, with weakness and sensory loss starting in childhood.
Autosomal dominant CMT4B3 has been tied to a novel SBF1 missense mutation, with muscle weakness, foot deformities and reduced sensitivity to touch.
Periaxin, the protein made by the PRX gene, maintains myelin; mutations lead to the demyelinating neuropathy of CMT4F, which often starts in childhood.
Blocked bile flow late in pregnancy raises blood bile acids, causing severe itching and raising the risk of preterm labor, fetal distress and stillbirth.
Recurrent infections, autoimmune complications and congenital heart defects can follow when STK4 mutations disturb the regulation of T and B cells.
Mutations in nuclear genes such as COX11 cut mitochondrial energy output, and muscle weakness, developmental delay and neurological signs often start in infancy.
Different genes in the oxidative phosphorylation pathway can cause COXPD13, and identifying which one supports choices such as coenzyme Q10 or vitamin support.