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.
Case reports of late-onset retinitis pigmentosa and of siblings with an intron 7 change show how sequencing finds the GNPTG and GNPTAB mutations behind MLIII.
Recessive MMP2 mutations disturb bone and joint development, causing nodules, pain and stiffness that may be mistaken for juvenile idiopathic arthritis in MONA.
Also called minicore or multicore myopathy, this rare disorder brings muscle weakness, respiratory problems and skeletal deformities that sequencing can help confirm.
When myelodysplastic syndrome transforms into acute myeloid leukemia, testing for mutations such as GATA2 can reveal inherited susceptibility and guide treatment.
Lactic acid builds up when mitochondria cannot produce energy normally. MRI patterns and testing for EARS2, PDHA1, DGUOK or BCS1L variants point to the specific cause.
Involuntary muscle contractions and steady loss of brain tissue define this illness; testing can confirm it, identify at-risk relatives and inform prenatal screening.
EEG, MRI, retinal recordings and biopsy narrow the picture, but naming the gene tells a family which NCL type is present and how it is inherited.
Six or more permanent teeth never develop, excluding third molars, and dental radiographs plus whole-exome sequencing can establish the genetic cause.