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.
Obesity, brain malformations, distinctive facial features and developmental delay appear together in IDOBMFDS. Variants of uncertain significance complicate results.
Located on chromosome 21, DYRK1A helps direct brain development; a point mutation there causes developmental delay, intellectual disability and neurological symptoms.
Skull sutures that fuse too early alter head shape and growth; the page covers diagnosis by exam and imaging, plus how DNA testing informs care and counseling.
Inflammation and scarring of the bile ducts in newborns show as prolonged jaundice and hepatosplenomegaly; genetic testing can pinpoint the underlying mutation.
Explore how genetic testing aids in diagnosing Jeune thoracic dystrophy, guiding personalized treatments and family planning for this rare genetic disorder.
Mutations in more than 30 cilia genes cause developmental delays, hypotonia and abnormal eye movements; next-generation sequencing helps pinpoint which one.
Corneal inflammation, scaly skin and sensorineural deafness form the KID syndrome triad, which follows GJB2 mutations affecting the connexin 26 protein.
Abnormal neuronal migration before birth leaves the cerebral cortex without its usual folds; a BAIAP2 variant is one reported cause, and prenatal testing is possible.