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.
Heart malformations that form during fetal development make up this group; testing for ZIC3 mutations linked to heterotaxy can guide early treatment and counseling.
Dry, scaly skin, limits in intellectual functioning and stiffness in all four limbs form the triad of this rare syndrome, which DNA analysis can confirm.
An underactive thyroid present from birth, without goiter, is hard to spot from physical signs. Gene testing names the mutation so hormone replacement can begin early.
X-linked inheritance shapes who develops CSNB1E; 65 variants were found in 59 patients, with high myopia and strabismus guiding lenses, surgery and early care.
Cohesin and chromatin accessibility are disturbed by NIPBL mutations in CdLS4, producing growth delays, intellectual disability and distinctive facial features.
eNOS gene polymorphisms G894T and T786C can lower nitric oxide production and raise risk; the page weighs early detection, tailored treatment and testing caveats.
Mutations in H6PD disrupt conversion of cortisone to cortisol, raising adrenal androgens and causing hirsutism and irregular periods that can mimic PCOS or CAH.
Novel WDR35 variants reported in a Chinese patient with CED4 and ectopic testis broaden the genotype-phenotype picture used in diagnosis and genetic counseling.