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.
Muscle weakness, tremors, rigidity and cognitive decline appear together in this rare disorder seen in Guam and the Kii Peninsula; C9orf72 testing can help.
Neurologists rule out look-alike conditions with EMG, nerve conduction studies, MRI and blood work before SOD1 gene testing confirms ALS Type 1.
Loss of UBE3A function on the maternal chromosome 15 leads to developmental delay, absent speech, seizures and frequent laughter; DNA testing confirms it.
Tiny red punctate lesions spread in a snake-like pattern across the skin. One altered copy of the gene is enough to pass it on, giving a 50% chance per child.
Fused eyelids at birth, sparse hair, brittle nails and cleft lip or palate follow TP63 gene mutations; blood or saliva testing confirms Hay-Wells syndrome.
Cloudy corneas, abnormal iris development and glaucoma are typical of ASD1; slit-lamp examination, gonioscopy and DNA analysis are used to confirm the cause.
Skin is absent in localised patches from birth, most often on the scalp, and diagnosis is clinical, with trauma and infection ruled out before management begins.
Appendicitis is a common and urgent medical condition where the appendix, a small tube-like organ attached to the large intestine, becomes inflamed.