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.
Mutations in more than one gene, among them CTNNB1 and TSPAN12, act together in this form of EVR; the limits of testing, including unknown variants, are set out.
Thickened heart muscle raises the risk of heart failure and arrhythmia. ECG, echocardiogram and genetic testing are used to diagnose this autosomal dominant condition.
Kidney scarring and a weakened, enlarged heart can share a genetic cause; case reports covered here include a tRNA mutation and combined heart-kidney transplant.
Research on Hspa5, Shank2, CBP and PRDM15 links axon growth, memory and holoprosencephaly to forebrain development, and explains what testing can add for families.
SCN1A mutations underlie this spectrum, which runs from mild febrile seizures to recurrent epilepsy; identifying the variant informs treatment and prenatal testing.
Low muscle tone can bring poor motor control, feeding difficulty and delayed milestones; case reports link it to GNB1, ATP1A3, CSNK2B and nemaline myopathy.
Also called Andersen Disease, GSD IV follows autosomal recessive inheritance; GBE1 results support carrier and prenatal testing, with liver transplantation discussed.
Uncontrolled complement activation, not a bacterial infection, drives the atypical form; CFHR1 isoforms, eculizumab, ravulizumab and transplant recurrence are reviewed.