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.
The PAF-AH enzyme breaks down platelet-activating factor, a mediator of inflammation and platelet aggregation; mutations reducing it are tied to metabolic problems.
Dysfunctional platelets cause excessive bleeding from minor injuries in PTBD11, an inherited disorder whose overlap with von Willebrand disease complicates diagnosis.
Platelet aggregation studies and VWF assays can be inconclusive, so GP1BA analysis is used to confirm platelet-type bleeding disorder 9 and screen relatives.
Cough, sinusitis and recurrent ear infections begin early in PCD16, and mirrored organ placement points to Kartagener syndrome; genetic confirmation is explained.
RARS2 mutations disturb mitochondrial function and underlie PME6, a disorder of myoclonic seizures, cognitive decline and movement problems; testing confirms it.
Acting as a cofactor that inhibits factor Xa, protein Z keeps clotting in check; too little raises thrombosis risk, and relatives can be tested for the same variant.
Asymmetric, patchy overgrowth of bone, skin and other tissue marks Proteus-like syndrome, a PTEN hamartoma tumor syndrome subtype that gene testing can confirm.
Exome sequencing can point to markers that raise psoriasis risk, and the page weighs what such results mean for monitoring, treatment choice and data privacy.