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.
Coarse facial features, heart defects, obesity, short stature and skeletal dysplasia cluster in CHOPS syndrome, where a de novo AFF4 variant has been reported.
A synonymous SEC24D variant can still disturb splicing and cut functional protein, a finding that sharpens diagnosis of Cole-Carpenter syndrome 2 and lookalikes.
Reduced mitochondrial activity in COXPD24 shows up as developmental delay, intellectual disability and epilepsy, which testing separates from similar disorders.
Hypotonia, developmental delay, sensorineural hearing loss and skeletal or brain abnormalities cluster in COXPD25, a rare mitochondrial energy disorder.
After a gene mutation is confirmed, COXPD-26 care draws on geneticists, neurologists, dietitians and therapists for metabolic monitoring and developmental support.
Pathogenic ABCA4 variants, including a complex allele and a pseudo-dominant pattern, were found in Polish patients with CRD21, an inherited retinal disease.
Reduced or blocked bile flow, jaundice and poor fat absorption point to CBASD5; identifying the mutation separates it from other bile acid defects.
Whole-exome sequencing uncovered a RAB3GAP1 mutation in a Tunisian family with CCMNSIDS, a syndrome of cataracts, microcephaly, a birthmark and intellectual disability.