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.
MMCRA combines abnormally small corneas, high myopia and chorioretinal atrophy, a degeneration of the retina and choroid, and is often autosomal dominant.
One or both eyes are abnormally small in Microphthalmia, syndromic 12, often with other anomalies; identifying the mutation supports earlier intervention and counseling.
Severe hypoglycemic attacks and lactic acidosis mark Complex III Deficiency Nuclear Type 6, in which a novel UQCRB variant was identified as the cause.
Muscle weakness, neurological issues and metabolic disturbance vary widely in nuclear type 8, where a novel UQCRB variant confirmed one pediatric diagnosis.
FBXL4 mutations cut mitochondrial DNA levels in children with MTDPS13, who often show developmental delay, muscle weakness and neurological problems in the first months.
Swallowing difficulty alongside the vessel changes of moyamoya disease makes diagnosis harder; familial patterns, what testing shows and its limits are discussed.
Explore how genetic testing aids in diagnosing multiple fibroadenomas of the breast, offering insights into risk assessment, personalized care, and family health guidance.
Explore muscle AMP deaminase deficiency, its genetic causes, and how targeted genetic testing aids diagnosis, treatment, and informed family planning.