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.
Two mutated copies, one from each parent, cause recessive CPHD; carrier couples face a 25% chance per pregnancy, and hormone tests with MRI support the diagnosis.
Blood levels of IgA, IgG and IgM plus vaccine response help identify dominant CVID, an autosomal dominant condition carrying a 50% chance of passing to a child.
Both copies of the gene must be altered in recessive CVID, which often starts in childhood with repeated respiratory and gut infections and a raised lymphoma risk.
Passed on in an autosomal dominant pattern, this form of cone-rod dystrophy carries a 50% chance for each child; CRX, GUCY2D and RIMS1 are among the genes tested.
Both parents must carry the gene for a child to develop this recessive cone-rod dystrophy, which begins in childhood with bright-light difficulty.
Generalized weakness, joint contractures, breathing trouble and dysphagia appear from infancy; EMG, imaging and biopsy narrow the picture, and ITGA7 testing confirms it.
Creatine kinase levels, muscle MRI and a targeted gene panel or exome sequencing identify the laminin-α2 shortage that weakens skeletal muscle from early infancy.
Two copies of a mutated gene, one from each parent, cause the recessive form. Targeted gene panels, whole exome sequencing and whole genome sequencing are compared.