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.
Discover the importance of genetic testing for malignant hypothermia diagnosis and risk stratification, along with benefits, limitations, and recent research advancements.
Tall stature, scoliosis and eye problems can point towards Marfan syndrome; FBN1 analysis confirms it, while an LTBP2 change has been linked to mitral valve prolapse.
Marfan and Loeys-Dietz syndromes, familial TAAD and sporadic cases share TGF-beta signaling and smooth muscle dysfunction, with SMAD3 tied to early-onset osteoarthritis.
A homozygous nonsense variant in HERC1, a gene in the mTOR pathway, underlies this brain disorder, and genetic testing can confirm it from a blood sample.
Build-up of methylmalonic acid and homocysteine can cause developmental delays and eye damage. MMACHC testing aids diagnosis and carrier screening.
Two altered copies of TUBGCP4 cause this recessive disorder; MRI, OCT and gene sequencing support the diagnosis, while care covers eye exams and early intervention.
Fabry disease stems from GLA mutations leaving alpha-galactosidase A deficient; only some of the 800-plus known variants are amenable to oral chaperone therapy.
Defects in the assembly or maturation of the respiratory chain complexes can affect muscle, nerves, heart and liver; blood tests, MRI, biopsy and DNA analysis are used.