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.
Scanning every protein-coding region of the genome helps identify the gene changes behind PCD 26 and laterality defects such as situs inversus, as this page sets out.
Both copies of the gene must carry mutations for PCD 27 to appear; testing can be done at any age, including in newborns, and guides treatment and family counseling.
Mutations in CCDC28B and other ciliary genes underlie PCD28, with recurrent airway infections and mirrored organs; DNA testing helps where biopsy is inconclusive.
Cilia depend on an intact DRC1 gene for their structure, and an ancient variant in it is linked to PCD29 in Japan and Korea; testing and personalized care are covered.
Rigidity and involuntary movement accompany weakness in the muscles nearest the trunk; sequencing in one Iranian family traced the disorder to a MICU1 mutation.
A GREB1L mutation that alters mRNA and protein expression needed for kidney development has been linked to RHD2, in which kidneys are underdeveloped or absent.
Darkly pigmented, net-like macules appear on the hands and feet in early adolescence in RAK, an autosomal dominant condition with a possible Gorlin-Goltz syndrome link.
Two novel EYS gene mutations were reported in Japanese patients with autosomal recessive disease, part of the picture behind RP67 night blindness and tunnel vision.