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.
Chromosome missegregation leaves tumor cells aneuploid, while somatic KRAS mutations and microsatellite instability shape prognosis and response to anti-PD-1 therapy.
Lynch syndrome raises the risk of both tumors, MLH1 promoter hypermethylation appears in 71% of endometrial carcinomas, and Bethesda criteria guide whom to evaluate.
Heavy protein loss in the urine, swelling and kidney failure appear within the first three months of life; genetic mutations account for many CINS cases.
Atrial and ventricular septal defects, pulmonary stenosis and tetralogy of Fallot can occur together in CHD8, sometimes with heterotaxy; DNA testing helps confirm it.
Multicolored deposits in the pre-Descemet layer point to PPPCD, an autosomal dominant dystrophy caused by PRDX3 mutations such as c.568G>C, seen on confocal microscopy.
Studies of eNOS, KLF-14, MTHFR and MiRNA-27a variants, plus six SNPs found in a Japanese cohort, inform risk assessment and family screening for this spasm type.
High LDL-C in FH raises coronary heart disease risk, yet a chromosome 6 locus tied to raised HDL-C may temper it. Diagnosis and genetic testing are described.
Unusual facial features, skeletal abnormalities and intellectual disability overlap other syndromes, so testing of NFIX, RSK2, FBRSL1 and RPS6KA3 is described.