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.
Discover how genetic testing for HLA-A*31:01 and HLA-B*1502 variants can help diagnose carbamazepine hypersensitivity, prevent severe reactions, and improve patient outcomes.
Mutations in CA1, CA2 or CA5A reduce the enzyme activity that keeps acid-base balance; blood markers such as ammonia and DNA analysis together support a diagnosis.
The enzyme helps regulate pH balance, respiration and carbon dioxide transport; sequencing, gene panels and microarrays can identify the variants involved.
Research summarised here ties severe heart muscle disease to Rbm20, MYBPC3 and an X-linked mutation, and sets out how family screening follows a positive result.
Rapid heart muscle failure in young children has been linked to Alström syndrome, ITPase deficiency, Rbm20 and OPA1; targeted, exome and genome sequencing are compared.
Faults in the mitochondria thicken the heart muscle, sometimes with muscle weakness, hearing loss and developmental delay; ACTN2, ACADVL and SDHD are named genes.
Damage to mitochondrial DNA can enlarge and weaken the heart muscle; studies of SOD2, the mtDNA T16189C variant and sarcomere mutations in IDC are summarised.
Whole-exome sequencing, targeted gene panels and mitochondrial DNA testing can each identify the mutation behind mitochondrial cardiomyopathy; cost and access limit use.