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.
Progressive microcephaly, motor delay, intellectual disability, spasticity and seizures mark this rare syndrome; genetic testing can confirm it and guide family planning.
Reduced ITPA enzyme activity lets inosine triphosphate build up in red blood cells; it is often symptom-free but can affect how thiopurine drugs are metabolized.
Intellectual disability, a protruding upper jaw and misaligned eyes occur together in IDAMP-S, and pinpointing the mutation can guide surgical and educational plans.
Phenotypes vary widely in ID-SS-MD Syndrome, which pairs developmental delay and behavioral difficulties with mild dysmorphic features and severe speech delay.
Underdeveloped eyes can cause severe visual impairment or blindness; PAX6 findings, including parental mosaicism, shape recurrence estimates for IM6 families.
Vision loss can follow when one or both eyes form too small; for Isolated Microphthalmia 7 the page weighs PAX6 results against the limits of interpretation.
Vertebral fusion in Klippel-Feil syndrome 3 can come with scoliosis, spina bifida, hearing loss and cardiac defects, so identifying the mutation supports monitoring.
Mutations in IQCB1 disturb retinal photoreceptors and may bring renal complications, so kidney function is monitored once the diagnosis is made.