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.
Changes in the PTH1R gene disrupt bone growth, producing short stature and bowed limbs. Genetic testing can distinguish Jansen type from other skeletal dysplasias.
Type X collagen made by COL10A1 is altered in MCDS, leading to short stature, genu varum and metaphyseal flaring. Testing confirms the diagnosis.
Metaphyseal dysplasia, underdeveloped maxillary bones and brachydactyly define MDMHB syndrome; genetic testing pinpoints the mutation behind it.
Short stature, spinal deformities and joint problems often show up early in life. TRPV4 variants underlie metatropic dysplasia, and testing can confirm the diagnosis.
Mutations in the KIF11 gene can cause small head size, chorioretinopathy, lymphedema and intellectual disability; testing confirms MCLID and guides eye care.
Genes such as TRPM8 and CKIdelta are tied to migraine susceptibility; knowing them may shape triptan or preventive choices, though the link is far from direct.
One hand copying the other involuntarily can reflect ARHGEF7 variants, which disturb Netrin-1 axon guidance and the lateralization of motor control.
Sebaceous tumors alongside internal cancers, most often colorectal, mark Muir-Torré syndrome; mismatch repair testing and [18F]FDG PET/CT imaging are explained.