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.
Brief seizures appear between three months and two years and are inherited in an autosomal dominant pattern; whole-exome sequencing found a novel PRRT2 variant.
Flat sessile serrated polyps are easy to miss during colonoscopy, so pinpointing the mutations behind this syndrome helps set how often the colon is checked.
Growth failure, strabismus, extensive dermal melanocytosis and intellectual disability occur together here, and genetic results help separate it from similar syndromes.
Developmental delays, intellectual disability and hypoglycemia from hyperinsulinemia can point to Shashi-Pena syndrome; DNA analysis can confirm it.
Cilia function breaks down when DYNC2H1 carries pathogenic variants, producing the short ribs, narrow thorax and extra digits seen in SRTD15 with polydactyly.
Newborn breathing problems can follow the short ribs and narrow chest of short-rib thoracic dysplasia 16, a ciliopathy where prenatal testing guides decisions.
Brachydactyly, obesity, short stature and global developmental delay appear together in this syndrome; novel TNRC6B gene variants have been linked to it.
Rhizomelic short stature with microcephaly, micrognathia and developmental delay was linked by whole-exome sequencing to a de novo ARCN1 intronic splicing variant.