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.
Loss of HMX1 function ties congenital cataracts, anterior segment dysgenesis and retinal dystrophy together in one rare disorder that testing can distinguish.
Nonspecific developmental symptoms often lead to misdiagnosis, so USP7 testing is what turns a suspected case of Hao-Fountain syndrome into a firm diagnosis.
Congenital anomalies of the heart and brain bring developmental delays and cardiovascular complications; variant testing can separate HBMS from overlapping syndromes.
Onset is usually in childhood or early adulthood, with symptoms worsening over time. HSP75 involves the SPG75 gene and the corticospinal tract, as a Mali study describes.
Where the heart, liver, spleen and intestines sit outside their usual positions, a biallelic DAND5 variant and impaired nodal signaling have been implicated.
YARS2 mutations disrupt mitochondrial protein synthesis in this syndrome, which brings hydrops fetalis, lactic acidosis, sideroblastic anemia and multisystem failure.
Excess aldosterone drives sodium retention, potassium loss and severe hypertension in this inherited disorder; mutation findings support treatment and relative screening.
Poor feeding, irritability and failure to thrive in an infant, with nephrocalcinosis or kidney stones, may prompt testing of calcium-handling genes to confirm the cause.