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.
Autosomal recessive CC2D2A mutations underlie Joubert syndrome, Meckel-Gruber syndrome, COACH syndrome and retinal dystrophy, with carrier and prenatal testing options.
DNM2 mutations alter the dynamin-2 protein in muscle cells, causing weakness that worsens over time and passing to each child of an affected parent half the time.
Cilia that do not work properly because of CEP290 mutations cause Joubert Syndrome, Leber Congenital Amaurosis and Meckel Syndrome, each with its own testing path.
Changes in the CFH gene can overactivate the complement system, causing conditions such as aHUS, C3 glomerulopathy and age-related macular degeneration.
Recurrent infections, seizures and developmental delays can follow mutations in CFI; targeted, exome and genome sequencing each help identify a CFI-related disorder.
Checkpoint kinase 2 repairs damaged DNA, and CHEK2 mutations raise the risk of breast, colorectal and prostate cancer; blood or saliva is enough to test.
Faulty cone cells caused by CNGB3 mutations lead to achromatopsia or progressive cone dystrophy; eye exams, electroretinography and gene testing are outlined.
Changes in PROP1, POU1F1 or HESX1 pass down in an autosomal dominant pattern, a 50% chance per child, and cause growth failure, delayed puberty and infertility.