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.
ECG findings such as T-wave inversions and epsilon waves, imaging of the right ventricle and PKP2, DSP or DSG2 results together point to ARVD13 in a family.
Tangled arteries and veins can cause headaches, seizures or bleeding. Most AVMs are sporadic, but testing helps when a syndrome such as HHT is suspected.
Short limbs, joint dislocations and underdeveloped ribs mark atelosteogenesis; X-rays plus FGFR2, FGFR3 or SLC26A2 testing help separate its three types.
Micrognathia, ear malformations and facial asymmetry point to ACS. Imaging plus testing of the EDN1, EDNRA or PLCΒ4 genes can confirm it when features overlap.
Fluid-filled cysts build up in the liver when PRKCSH or SEC63 is mutated. Ultrasound, CT and MRI show the cysts; DNA sequencing identifies the gene involved.
Failure to thrive, vomiting and dehydration in an infant can point to ARIH, caused by CYP24A1 mutations that let active vitamin D and blood calcium build up.
Bacteria entering the bloodstream can cause fever, chills and low blood pressure; blood cultures confirm it, and variants in immune genes such as TLRs affect risk.
Mutations in BSND disrupt barttin and kidney chloride channels, causing hypokalemia, metabolic alkalosis and hypercalciuria that lab tests and DNA analysis confirm.