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.
A novel homozygous splice site variant in CERS3 has been identified as a cause of ARCI9, a rare disorder of widespread scaling and hyperkeratosis seen from birth.
Both parents must pass on a mutated gene for LGMD2T to appear, and a POPDC3 splice site variant has broadened what testing for this muscle disorder can look for.
A splice site variant in POPDC3 causes a frameshift and a truncated protein, one of the findings described alongside the muscle weakness and wasting of LGMDR18.
Defective osteoclasts leave bone dense but fragile in ARO8. The page ties TCIRG1 mutations, including c.G630A, to diagnosis, carrier testing and management.
Balance and fine motor skills decline as the cerebellum degenerates in ARSCA14. DNA analysis tells it apart from similar ataxias and gives parents carrier status.
Defects in the cytochrome c oxidase complex cut the cellular energy supply, causing severe cardiac and neurological symptoms in infancy; SCO2 testing is covered.
Distinctive facial features, cardiac anomalies, skin abnormalities and intellectual disability overlap other RASopathies, so DNA analysis is what pins down CFC2.
Growth-signalling genes BRAF, MAP2K1, MAP2K2 and KRAS underlie CFC3; testing separates it from other RASopathies and supports counseling on recurrence risk.