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.
Diagnosis can mean a long process of elimination, but testing can name the mutation behind MDDGA10, which affects muscle function alongside brain and eye development.
Vision, brain development and muscle function are all affected in MDDGA12, where mutations in the POMT1 gene are the common finding on genetic testing.
Mutations in the POMT2 gene are commonly implicated in type A14, a congenital muscular dystrophy with brain and eye anomalies that genetic testing can confirm.
LAMA2 disruption underlies type B14, where muscle weakness, intellectual disability, brain malformations and epilepsy vary with the specific variant involved.
Elongation of the eyeball causes blurred distance vision in this dominantly inherited form of nearsightedness, where early detection shapes lens choice and monitoring.
Four Chinese families with KLHL40 variants widened what is known about NM8, a myopathy with muscle weakness, breathing problems and sometimes cardiac involvement.
Cysts form in the kidneys and push them toward failure. Whole-exome sequencing has identified ANKS6 variants in prenatal and neonatal cases of echogenic kidneys.
Genes that keep the glomeruli intact are altered in NS8, which resists steroid treatment; identifying the mutation supports earlier diagnosis and targeted therapy.