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.
Faulty tubulin proteins disturb microtubule function and brain development. A novel TUBA1A mutation in an infant with macrocephaly but no eye anomalies is described.
Frequent seizures and developmental delays in infancy define UEOEE. Pinpointing the gene mutation behind it can narrow medication choices and likely response.
Craniofacial anomalies, intellectual disability and limb malformations arise from DCHS1 mutations; a compound heterozygous case may widen the known phenotype.
Explore how genetic testing aids in early detection, personalized treatment, and risk assessment for Ventricular Arrhythmias due to CRDS. Enhance patient outcomes.
Warty, raised skin lesions of this rare vascular anomaly are easily mistaken for verrucous venous malformation; genetic markers help separate the two diagnoses.
Organs arranged in mirror image or in an unpredictable pattern can bring heart defects, spleen malformations and gut anomalies; CFAP53 mutations are one cause.
Roughly 1 in 40,000 people worldwide are affected by this inherited condition, in which PAX3, SOX10, MITF, EDNRB and EDN3 disturb neural crest cell development.
Mutations in ADAMTS10 or ADAMTS17 affect connective tissue, producing short stature, brachydactyly, joint stiffness and microspherophakia that can lead to glaucoma.