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.
Explore the impact of genetic testing on Mitochondrial DNA Depletion Syndrome 4b, highlighting diagnosis, treatment personalization, and family planning insights.
ACTA2 mutations impair smooth muscle cells in blood vessels and hollow organs, bringing vascular anomalies, respiratory issues and gastrointestinal problems in MSMDS.
A homozygous change in YARS2 disturbs mitochondrial function in MLASA2, producing muscle weakness, lactic acidosis and anemia with ringed sideroblasts.
Fibrosis and cysts scar the kidneys in this autosomal recessive ciliopathy, which often reaches end-stage renal disease early; siblings carry a 25% chance of it.
Polyuria, polydipsia and anemia point to progressive kidney disease, and a TTC21B mutation was reported in an adult-onset case that clinical evaluation alone had missed.
Nephrons are destroyed step by step when the genes governing renal cilia are mutated, usually starting in childhood, though adult-onset cases have also been reported.
Numbness, tingling and pain in the extremities can progress to severe sensory loss, and a confirmed mutation guides symptom management and family counseling.
As one of the RASopathies, this disorder affects RAS/MAPK signaling. Whole-exome sequencing, early intervention and reported links to other conditions are outlined.