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.
Night vision that adapts slowly, plus white-yellow retinal spots, points to fundus albipunctatus, which ERG and RDH5 gene testing together confirm.
When GALE mutations disable UDP-galactose 4'-epimerase, galactose builds up; biochemical and molecular tests confirm galactose epimerase deficiency.
Muscle weakness, seizures, hearing loss and angiokeratomas can begin in adolescence; enzyme assays and CTSA analysis confirm adult galactosialidosis.
Too little protective protein/cathepsin A brings seizures and developmental delay in early infantile galactosialidosis, which exome sequencing can pin to a mutation.
Symptoms appear between two and five years of age and overlap with GM1 gangliosidosis, so CTSA analysis distinguishes late infantile galactosialidosis.
Two copies of a mutated gene, one from each parent, are needed for ARG; exome sequencing and gene panels can find variants when MYOC is not the cause.
Juvenile open angle glaucoma can arise when mutations in two genes act together, which variant curation helps identify; TNF-α and tear-film biomarkers also feature.
Glaucoma in children and young adults can follow from two interacting genes; eye pressure, optic nerve and visual field checks are paired with DNA testing.