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.
SCN5A mutations disturb the heart's sodium channels, producing the ECG pattern and arrhythmia risk seen here; testing supports risk assessment and family screening.
Red or purple birthmarks can point to an underlying vascular disorder; mosaic pathogenic variants in the AKT3 gene have been linked to capillary malformations.
Variants in BRAF, MAP2K1, MAP2K2 and KRAS disturb the RAS/MAPK pathway in CFC syndrome, whose craniofacial, skin and cardiac features overlap Noonan and Costello.
Mutations in PRKAR1A cause Carney Complex, an autosomal dominant disorder involving skin pigment changes, myxomas, endocrine overactivity and schwannomas.
Muscle pain and stiffness after fasting or exercise can signal CPT II deficiency, an autosomal recessive condition caused by mutations in the CPT2 gene.
Sudden muscle weakness triggered by strong emotion accompanies the daytime sleepiness of narcolepsy. Variations in the HLA-DQB1 gene tie it to the immune system.
Caveolin-3 keeps the muscle cell membrane stable, so CAV3 mutations can bring weakness, pain and fatigue, sometimes as asymmetrical distal myopathy.
Arteriovenous malformations in the brain and face can cause headaches, seizures and facial asymmetry; genetic testing supports diagnosis of CAMS and family screening.