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.
Underdeveloped central rays with extra fingers or toes define SFM-MPS; long-read sequencing identified biallelic WNT10B variants and confirmed variant phasing.
Type II collagen is altered by COL2A1 mutations in SEDST, producing disproportionate short stature, spinal deformity and joint changes from early childhood.
Cognitive and developmental difficulties trace back to TELO2 mutations, which disrupt cellular processes; testing separates the disorder from similar conditions.
Iron uptake and immune function both depend on TFRC; when the gene is mutated, infections become frequent, and whole-exome sequencing can pin down the diagnosis.
Liver dysfunction and raised liver enzymes, without encephalopathy, mark this chronic non-progressive disorder. TMEM199 testing confirms it and guides counseling.
ET5 causes rhythmic hand shaking that is hard to tell from other movement disorders. Long-read sequencing is presented as a route to clearer diagnosis and care.
Unlike other forms, TTD6 brings no sun sensitivity; brittle hair and intellectual disability follow C7orf11 (TTDN1) changes. Diagnosis and counseling are described.
Polymorphisms in the XPD and XPG DNA repair genes may affect susceptibility to Wilms tumor 6, a childhood kidney cancer; testing also supports family screening.