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.
Painful white pustules on reddened skin, sometimes with fever and malaise, mark this subtype; a SPINK5 splice site mutation shows why testing separates look-alikes.
A single point mutation in PURA can disrupt protein production, leaving a newborn with low muscle tone, recurrent seizures and impaired brain function.
Alström Syndrome joins progressive vision loss to obesity, hearing loss and diabetes through ALMS1 mutations, including a variant that causes aberrant splicing.
Degeneration affecting inner retinal function and ganglion cells is hard to pin down clinically, so DNA analysis is used to identify mutations and inheritance patterns.
Research in Japanese patients identified three EYS variants tied to RP70, one of them pathogenic in zebrafish models, and testing can flag risk before symptoms.
EXOSC2, a gene involved in RNA processing, is altered in this syndrome, which combines retinitis pigmentosa, hearing loss, short stature and intellectual disability.
CTP synthase 1 supplies a building block for DNA and RNA, and CTPS1 mutations weaken immunity; a confirmed result can also help match a transplant donor.
Broken repair of DNA double-strand breaks stops T and B lymphocytes maturing in this SCID form, and sequencing shows the mutation and flags carriers in the family.