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.
Mutations in SEPN1 and ACTA1 disrupt muscle cells in CMD-RS. Genetic testing can confirm the diagnosis, guide treatment choices and find carriers for prenatal testing.
Inheritance shapes recurrence risk: dominant CMS carries a 50% transmission chance, recessive 25% when both parents carry it. EMG, RNS and gene testing are described.
Alpha-hydroxyisovalerate is a blood metabolite whose low levels are linked to axial spondyloarthritis and cancer; measurement and DNA analysis are outlined.
Cognitive decline, hearing loss and impaired limb sensation occur together in this rare disorder; ATP1A1, FITM2 and DNMT1 variants appear in the case studies.
Mutations in the MYO5B gene disrupt intestinal microvilli and cause severe newborn diarrhea. Clinical assessment, intestinal biopsy and carrier testing are covered.
Two mutated copies of a gene such as TTN, LMNA, MYH7 or BAG3 are needed for this rare familial form, and the gene involved shapes severity, age of onset and treatment.
Symptoms that match no defined disorder are labeled Not Otherwise Specified; DNA analysis may point to a cause, inform treatment choices and clarify risk for relatives.
Kidneys that cannot excrete enough acid lead to growth retardation, kidney stones and bone deformities; diagnosis combines lab tests, genetics and alkali therapy.