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.
Newborn symptoms can look like sepsis, so confirming mutations in the GSS gene matters early, alongside metabolic acidosis, hemolytic anemia and counseling.
Acid alpha-glucosidase (GAA) deficiency lets glycogen build up in muscle, weakening breathing over time; GAA gene results inform enzyme replacement therapy decisions.
A mutation in SLC37A4 blocks glucose-6-phosphate transport, so glycogen builds up and GSD1 brings hypoglycemia, lactic acidosis and hyperlipidemia.
Explore how genetic testing aids in diagnosing GM1 gangliosidosis, enabling early intervention, personalized treatments, and informed family planning decisions.
Changes in ST3GAL5 interrupt ganglioside synthesis and produce the severe neurological symptoms of GM3 synthase deficiency; testing supports prenatal diagnosis.
Silvery-gray hair and skin with immune deficiency can precede hemophagocytic lymphohistiocytosis in Griscelli syndrome type 2, which RAB27A analysis confirms.
A liver cancer affecting children under three, hepatoblastoma often shows up as an abdominal mass with nausea and jaundice; one linked variant is miR-34b/c rs4938723.
Explore how genetic testing aids in early detection and personalized treatment of hereditary amyloidosis, focusing on the SAA1 promoter mutation's impact on kidney health.