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.
SLC18A2 variants disrupt dopamine transport and raise blood manganese levels. Dystonia, developmental delay, MRI findings and genetic testing are covered.
Sequencing in HIDS6 can show whether a PGAP2 mutation was inherited or arose de novo, information that shapes management and counseling for the family.
Inadequate myelin production affects nerve signaling and the cerebellum, causing developmental delay and motor dysfunction that imaging alone may not explain.
Motor skills decline and development slows as myelin around nerve fibers falls short. Identifying the POLR3K change confirms HLD13 earlier than clinical signs.
A splicing variant in the UNC80 gene disrupts neurological and muscular development in IHPRF2; testing confirms the cause and supports early therapy planning.
Severe hypotonia, psychomotor retardation and distinctive facial features mark IHPRF3, a disorder tied to TBCK mutations that testing can pinpoint in infancy.
Also called Berger's disease, IgA nephropathy can damage kidneys silently; IL-23R and IL-17A polymorphisms have been tied to risk in the Chinese Han population.
Varied presentation and overlap with other disorders make IMD45 hard to recognize, so identifying the underlying mutation shapes both treatment and counseling.