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.
Severe developmental delay, brain anomalies, heart defects and synpolydactyly have been tied to MAPKAPK5 and MED13L variants and to Smith-Lemli-Opitz syndrome.
Platelets that fail to clump in response to ristocetin raise bleeding risk; Multiplate testing and variants in CYP2C19, ABCB1 and GNAS are all discussed.
Platelets that respond poorly to thromboxane A2 form clots less readily, raising bleeding risk. Platelet function tests and bleeding time help diagnose it.
Ferrochelatase deficiency lets protoporphyrin IX build up in red blood cells, and blood measurement, genetic testing and EPP monitoring during pregnancy are covered.
Thickening of the left ventricular wall traces back to sarcomeric gene mutations such as myosin heavy chain; cardiac MRI and family screening strategies are explained.
When an 11-to-14-week ultrasound shows a larger-than-expected fluid space at the fetal neck, combined first-trimester screening, NIPT, CVS or amniocentesis may follow.
Excess collagen stiffens the heart wall and limits pumping; the page covers echocardiography, cardiac MRI and biopsy, plus β-myosin heavy chain gene findings.
LVV inflames the large and medium-sized arteries; giant cell arteritis is a common type. Diagnosis uses clinical review, labs, imaging and sometimes biopsy.