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.
Cyanosis, fatigue and shortness of breath can follow a build-up of methemoglobin caused by HBB gene mutations. Genetic testing identifies the variant and guides care.
Too little mevalonate kinase drives mevalonic aciduria, bringing recurrent fever, developmental delay and inflammation; MVK testing confirms the diagnosis.
Attacks of one-sided weakness with headache, plus worsening coordination, follow CACNA1A mutations; testing separates SHM-PCA from FHM1 and childhood epilepsy.
Discover MORM Syndrome, a rare genetic disorder, and learn how advancements in genetic testing aid in diagnosis, carrier testing, and prenatal screening for better outcomes.
Hirschsprung disease can be the first sign of MEN2A, and both trace back to the RET proto-oncogene; rectal biopsy and biochemical tests are also described.
Thyroid, parathyroid and adrenal tumors, sometimes with cutaneous lichen amyloidosis, characterize MEN IIA; targeted testing and surgical options are covered.
Stiff person syndrome, progressive encephalomyelitis and acquired neuromyotonia are among the causes considered, alongside EMG, blood tests and genetic testing.
Twenty-eight genes, among them PAI-1, CX37 and IL18, have been tied to acute myocardial infarction risk, and OCT imaging can clarify causes in unclear cases.