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.
Research on CFAP418, platelet mitochondrial DNA mutations and LARS2 is summarized, with how genetic testing confirms a mitochondrial diagnosis and guides care.
Enzyme defects leave partly broken-down sugar chains in the body, producing the bone, facial, liver, heart and breathing signs grouped as mucopolysaccharidoses.
Muscle weakness, hypotonia and paralysis can trace to gene mutations or metabolic disease; Floppy Baby Syndrome and FSHD show what testing can find.
Four disorders reach the pancreas: hereditary hemochromatosis, Down syndrome, HNF1B-related incomplete pancreas and cystic fibrosis, each with its own genetic test.
Microcephaly, linked to the microcephalin and ASPM genes, and hypoplastic left heart syndrome show what prenatal and preimplantation testing can tell families.
Unexplained cyanosis, breathlessness and fatigue may point to arteriovenous malformation or pulmonary arterial hypertension; BMPR2 testing and its limits are set out.
Nearsightedness, farsightedness and astigmatism arise from corneal shape, eye length and lens power, with research on bestrophinopathy, keratoconus and nanophthalmos.
Bones, joints and connective tissue are affected in osteogenesis imperfecta, achondroplasia and Marfan syndrome; exome sequencing and prenatal panels are explained.