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.
Damage to the inner ear or auditory nerve may trace to SLC26A4, GJB2, CIB2, TSPEAR or mitochondrial DNA mutations, findings that guide early diagnosis and counseling.
Brain malformations tied to TSC1 or TSC2 mutations and disturbed mTOR signaling can cause epilepsy and developmental delays; MRI and gene testing are explained.
Distinctive facial features, delayed development and raised cancer risk follow H-RAS mutations; whole exome sequencing has confirmed diagnosis in atypical cases.
Because this form fits no known craniosynostosis syndrome, diagnosis leans on examination and CT alongside gene testing; an FGFR2 family mutation is described.
A gap in the skull bones defines cranium bifidum occultum, a rare congenital disorder shown on radiographs or prenatal ultrasound, with ALX4 among the genes studied.
Discover the power of genetic testing in diagnosing Crohn's disease, personalizing treatment plans, and identifying at-risk individuals for better prevention strategies.
Two genes each carrying a mutation can combine to impair hearing, a rare inheritance pattern that makes diagnosis harder; DNA analysis covers both GJB2 and GJB3.
Connexin 26 and connexin 30 are affected together in this congenital sensorineural hearing loss, which exome sequencing and large-deletion analysis can detect.