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.
Variants in STUB1, a gene for cellular protein quality control, are linked to cognitive decline with or without problems of coordination and balance.
Malonic and methylmalonic acids build up when enzyme function is defective, producing ketoacidosis, dystonia, hypotonia, developmental delay and failure to thrive.
The heart and muscles run short of energy in COXPD8, where respiratory chain complexes are deficient, giving cardiomyopathy, weakness and neurological symptoms.
Faulty cortical formation in CDCBM1 leads to developmental delay, intellectual disability and seizures, with variants reported in migration genes such as TUBB.
Weakness and fatigue in CMS16 trace back to the RAPSN gene and the rapsyn protein. Finding the exact variant supports earlier diagnosis, tailored therapy and counseling.
Cilia defects underlie CED3, whose craniofacial, skeletal and ectodermal features are linked to DYNC2H1 changes that testing can identify before or after birth.
Facial structural differences alongside defects of the cornea, iris and lens define this congenital syndrome; mutation testing supports diagnosis and counseling.
Dental irregularities often accompany early suture fusion; FGFR1, FGFR2 and FGFR3 findings help separate syndromic cases and plan surgery and dental care.