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.
Distinctive facial features, growth delays, intellectual disability and limb differences define CdLS, while NIPBL and SMC1A variants account for much of its variability.
Two faulty copies of the BCHE gene slow breakdown of choline esters, so muscle relaxants in surgery can cause prolonged paralysis; testing guides anesthesia.
Kidney stones, hypercalciuria and progressive chronic kidney disease mark Dent disease, an X-linked recessive disorder tied to CLCN5 or OCRL mutations.
Because its features overlap other skeletal dysplasias, Desbuquois syndrome is often confirmed by gene testing, which also identifies carriers among parents and siblings.
The heart sits on the right side of the chest in dextrocardia, often with other defects; a novel MMP21 variant ties it to left-right patterning in the embryo.
Discover how genetic testing enhances diagnosis and personalized treatment of Diamond-Blackfan Anemia, improving outcomes and future research insights.
Muscle weakness and wasting in the distal limbs, usually without sensory loss, begins in childhood or early adulthood, and biallelic SORD variants are one known cause.
When the distal tubules cannot excrete acid, metabolic acidosis follows; testing for SLC4A1, ATP6V0A4 and ATP6V1B1 mutations can confirm dRTA and guide care.