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.
Muscle weakness, joint contractures and cardiac complications define EDMD3, a recessive condition in which each parent carries a mutation in the LMNA gene.
Infection can trigger acute brain inflammation in susceptible children, and digenic RANBP2 and CPT2 variants were reported in familial necrotizing cases.
Thickened, malformed or missing nails accompany blistering on the hands and feet; mutations in the keratin 14 gene are found by testing that also guides skin care.
Variants in the CAPSL gene have been linked to EVR6, in which retinal vessels develop abnormally; testing supports diagnosis, counseling and prenatal decisions.
Hundreds to thousands of polyps line the colon and rectum in FAP3; APC testing supports colonoscopic surveillance, preventive surgery and family planning decisions.
Rather than one gene, polygenic risk scores aggregating many variants describe susceptibility in FTLE7, a temporal lobe epilepsy that clusters in families.
Explore the genetic basis of Familial Temporal Lobe Epilepsy 8 and the role of genetic testing in diagnosis, risk assessment, personalized medicine, and family planning.
Among the 22 complementation groups, group T shares the failure of DNA repair that leads to bone marrow failure and raised cancer susceptibility in patients.