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.
Cerebrospinal fluid builds up and presses on the brain; variants in SMARCB1, MPDZ and CCDC88C have been linked to severe cases and inform prognosis and planning.
Muscle weakness, fatigue and lipid droplets in muscle cells mark this disorder; ETFDH mutations tie it to MADD, and testing can guide treatment and family planning.
Pendred syndrome, enlarged vestibular aqueduct and nonsyndromic hearing loss share mutations in SLC26A4, the gene for pendrin, a protein the inner ear depends on.
Mainly affecting young women, with median onset near age 24, SCCOHT is marked by germline or somatic SMARCA4 mutations that inform treatment and family risk.
Cancer that arises in scar tissue after a severe burn is rare and often advanced when found; Fas gene mutations appeared in 14.3% of cases in one study.
An enzyme that neutralizes superoxide radicals, EC-SOD has been tied to pulmonary conditions and to an Ala40Thr variant associated with type 2 diabetes in one population.
Repeated episodes of inflammation bring fever, rash, joint pain and fatigue; in systemic autoinflammation, finding the causal gene mutation can guide targeted treatment.
Iron moves through the blood bound to transferrin, and this locus relates to variation in its levels. GWAS, targeted panels and whole-exome sequencing are described.