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.
Early-onset pulmonary emphysema plus gastrointestinal and genitourinary anomalies accompany the loose skin of this rare cutis laxa form, with mild cardiac involvement.
Explore genetic testing's impact on diagnosing beta-ureidopropionase deficiency, a rare metabolic disorder. Learn about early intervention, family planning, and more.
Disrupted red cell production in DBA10 traces to ribosomal protein genes such as RPS10; results inform steroid or transfusion decisions and genetic counseling.
Anemia appearing in infancy marks DBA9, one of the ribosomopathies, where an RPS7 missense mutation disrupts erythrocyte metabolism and protein translation.
Palpitations, fatigue and breathlessness can accompany DCM 1CC, where mutations affecting cardiac muscle proteins are traced to tailor treatment and screen relatives.
Inherited mutations in genes that keep cardiac cells intact underlie DCM 1DD, a condition that can progress to heart failure, arrhythmias and sudden cardiac death.
Pathogenic variants turned up in 50.8% of adults in a Romanian dilated cardiomyopathy study, the starting point for this look at risk screening and family planning.
Echocardiograms and MRI show the enlarged, weakened left ventricle of DCM 1FF but not its cause; variant interpretation and privacy concerns are weighed too.