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 how genetic testing aids in diagnosing retinitis punctata albescens, a hereditary retinal disorder, enhancing patient care, family planning, and treatment options.
Genetic testing identifies CBP/EP300 mutations, aiding in diagnosing Rubinstein-Taybi Syndrome, crafting management plans, and guiding family planning decisions.
Four genes define subtypes A to D of this metabolic disorder, in which heparan sulfate builds up in cells. Type D involves GNS, and carrier screening is also possible.
Growth retardation, microcephaly and distinctive facial features follow from faults in DNA replication and repair genes. Sequencing can identify ATR, RBBP8 and others.
MFN2 keeps mitochondria working in peripheral nerves; when it fails, early muscle weakness and sensory loss follow, and a DNA test avoids an invasive muscle biopsy.
Myoclonus, ataxia and visual impairment starting in late childhood or adulthood follow NEU1 mutations in sialidosis type 1; testing also guides counseling.
Genetic testing is vital for diagnosing Sotos syndrome, a rare disorder linked to NSD1 gene mutations, aiding early interventions and familial planning strategies.
The TDP1 c.1478A>G variant, common in the Middle East, underlies SCAN2, which affects the cerebellum and peripheral nerves and brings unsteady gait and weakness.