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.
In partial AVSD only the atrial septum is affected, while heterotaxy leaves organs abnormally arranged; CRELD1 missense mutations link the two conditions.
Candidiasis, hypoparathyroidism and adrenal insufficiency form the core of APS-1; AIRE gene results confirm it and separate it from APS-2 and APS-3.
Discover the importance of understanding, diagnosing, and managing axial hypotonia using genetic testing to identify causes, guide treatment, and enable early intervention.
RFXANK mutations leave immune cells short of MHC class II molecules, weakening defense against infection; testing confirms the diagnosis and identifies carriers.
Missing MHC class II molecules weaken immune defense in this subtype tied to RFXANK, with CIITA findings, genetic counseling and prenatal diagnosis also covered.
Without MHC class II on antigen-presenting cells, infections recur; RFXANK, CIITA and RFX5 are the genes involved, and one RFXANK mutation caused neurodegeneration.
Repeated infections follow when antigen-presenting cells cannot display MHC class II; RFXANK and CIITA studies, one reporting progressive ataxia, are reviewed.
Recurrent respiratory infections, ataxia and developmental delay point to MHC class II deficiency; flow cytometry and DNA analysis of RFXANK or CIITA confirm it.