Brugada Syndrome 9: Unraveling the Genetic Threads of a Silent Heart Condition
More often diagnosed in Southeast Asian populations and in men, this subtype involves SCN5A sodium channel mutations; testing identifies carriers and informs ICD use.
Brandon Colby, MD
MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
About Brandon
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).
Education
- BA in Genetics with Honors, University of Michigan · 2000
- MD, Mount Sinai School of Medicine · 2004
- MBA, Stanford University Graduate School of Business · 2007
Affiliations & Memberships
- Affiliate Specialist, American College of Medical Genetics and Genomics (ACMG)
- Associate, American College of Preventive Medicine (ACPM)
- Member, 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.
Articles by Brandon
Cracking the Code: Genetic Testing for Candidiasis, Familial, 9
Part of the chronic mucocutaneous candidiasis group, familial candidiasis 9 is covered here through what DNA testing can identify and what it can still miss.
Cracking the Code: Understanding Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome c Oxidase Deficiency 3
SCO2 mutations block assembly of the cytochrome c oxidase enzyme, and symptoms begin early in life; whole-exome and next-generation sequencing can identify them.
Cardioencephalomyopathy, Fatal Infantile: Understanding Genetic Testing for Cytochrome c Oxidase Deficiency 4
Infants with this fatal cardioencephalomyopathy carry SCO2 changes that impair cytochrome c oxidase assembly; carrier testing informs family planning decisions.
Cataract 44: GSTM1 and GSTT1 Gene Polymorphisms
Glutathione S-transferase variants GSTM1 and GSTT1 are examined as susceptibility markers for Cataract 44, with diet and lifestyle raised for those at higher risk.
Cerebrooculofacioskeletal Syndrome 3: Early Features
Early developmental delay, distinctive facial features and skeletal anomalies point to COFS3, which stems from mutations in genes that maintain cellular repair.
Charting the Course of Charcot-Marie-Tooth Disease Axonal Type 2U: The Role of Genetic Testing
Researchers have tied a novel MARS gene mutation to early-onset CMT2U, with functional assays used to judge whether such variants are meaningful.
CMT2V: MT-ATP6 Changes and Axon Degeneration
Because MT-ATP6 supports cell energy production, mutations there disrupt nerve function and drive the axon degeneration and weakness seen in CMT2V.