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.
Dysfunctional fibrinogen disrupts the coagulation cascade and can cause bleeding. The disorder is autosomal dominant, and fibrinogen gene mutations confirm it.
Muscle cramps, tingling and seizures can follow the low calcium caused by too little parathyroid hormone, with PTH gene mutations behind the inherited form.
Inherited BRCA1, BRCA2 and TP53 variants raise ovarian cancer risk in some families, where surveillance may include transvaginal ultrasound and CA-125 blood tests.
IBA57 helps assemble the iron-sulfur clusters mitochondria need for energy production, and its mutations are linked to a fatal infantile leukodystrophy form.
Thickened skin on the palms and soles defines this keratoderma, which has been linked to defective cathepsin Z variants that alter EGFR expression in the epidermis.
Slow-growing and made of both neuronal and glial cells, ganglioglioma often carries BRAF changes in the MAP kinase pathway that can guide targeted therapy.
Five novel GBE1 variants have been reported in severe neuromuscular GSD IV, where early testing helps anticipate muscle, respiratory and cardiac problems in children.
Hypertrophic cardiomyopathy, hypotonia and muscle weakness appear early in this GBE1-related form, where testing separates it from similar conditions in infancy.