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.
PIEZO1 mutations disrupt lymphatic function in LM6, causing fluid buildup and swelling; nonimmune fetal hydrops, prenatal monitoring and genetic counseling are covered.
HERC1 and PMP22 variants found in a 2-year-old child show what genetic testing can add when macrocephaly, dysmorphic facies and psychomotor retardation occur together.
CHD8 defects underlie MIND-ST syndrome, whose features include intellectual disability, autism spectrum disorder, distinctive facial features and macrocephaly.
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism and camptodactyly combine in this rare syndrome, which genetic testing can confirm.
Primordial dwarfism with small ears and patellar aplasia characterises MGS6, and whole-exome sequencing can show which of 13 replication genes is affected.
Because MCPH16 is autosomal recessive, both parents must carry the change; the page explains what genetic testing shows about VDR polymorphisms and care planning.
Three features define MCCPDS: microcephaly, cataracts present at birth and psoriasiform dermatitis. Genetic testing can confirm it and support timely cataract surgery.
A novel mutation in IGF1R, a gene central to insulin-like growth factor signaling, links small head size, short stature and unstable blood sugar in MSSIGM2.