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.
Genes that handle vitamin B12 are altered in type cblJ, so methylmalonic acid and homocysteine accumulate; treatment centers on diet changes and B12 supplementation.
Explore how genetic testing unveils the mysteries of microcephalic primordial dwarfism, with insights into diagnosis, management, and family genetic counseling.
Smaller head size with intellectual disability marks Microcephaly 9; a homozygous MCM7 mutation disturbs DNA replication and cell division.
Pyruvate cannot enter the mitochondria when MPC1 or MPC2 is altered, so lactate builds up and children may show developmental delay and growth failure.
Susceptibility to MS involves genes as well as environment; a study points to the CC genotype of NCOA5 as a risk factor, and risk assessment is discussed.
Muscle weakness, brain malformations and eye abnormalities define type A, 11; whole exome sequencing gave high diagnostic rates in a study conducted in Egypt.
Defects in the glycosylation of alpha-dystroglycan drive the muscle weakness, brain malformations and eye abnormalities of type A, 8; one report names POMGNT2.
Clinical features of type A13 overlap other neuromuscular disorders and muscle biopsy may not settle it, so molecular analysis of alpha-dystroglycan genes is described.