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.
Reduced NADH-cytochrome b5 reductase activity lets methemoglobin build up, causing cyanosis. CYB5R3 testing confirms the diagnosis and separates Type I from Type II.
Persistent fetal vasculature, vitreoretinal dysplasia and hyperinsulinaemic hypoglycaemia can accompany this disorder, linked to CTNNB1, PORCN and NAA10 variants.
Newborn screening flags raised phenylalanine, and PAH variants show how close monitoring must be; carriers of p.R53H needed less frequent checks in a Japanese study.
Impaired aldosterone production upsets sodium and potassium balance, causing fatigue, weakness and low blood pressure; blood and DNA tests confirm the cause.
A KMT2A rearrangement at 11q23.3 fuses the gene with a partner and drives a leukemia with both lymphoid and myeloid features. FISH, PCR and NGS are explained.
Abnormal B lymphocytes circulate below the level that defines chronic lymphocytic leukemia in MBL. Flow cytometry, SNP studies and prognosis are described.
Hand and foot weakness that spreads over time is linked to mutations in HINT1, C19ORF12 and UBE3C, with carbamazepine and counseling among the topics reviewed.
Four types of mucolipidosis overlap with other conditions, and type III can mimic juvenile idiopathic arthritis; whole-exome sequencing helps tell them apart.