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.
Whole exome, clinical exome and targeted panel testing can name the disorder behind severe bone and cartilage defects, including COL2A1 and CREB3L1 findings.
Genetic testing for LDL-C QTL7 aims to spot variants that push cholesterol up, informing treatment choices, family planning and research into new therapies.
A quantitative trait locus linked to LDL cholesterol, LDL-QTL8 is examined through FADS1 and PCSK9 research, with notes on risk assessment and treatment choices.
Reduced calcitriol can underlie hypophosphatemic rickets, osteomalacia and hypocalcaemia; the page covers diagnosis and a CASR mutation found in one family.
Germline and somatic KIT changes both shape mastocytosis; D816V appears in about 90% of adults with the systemic form, and tyrosine kinase inhibitors target it.
Mutations in the ARSA gene reduce arylsulfatase A, letting sulfatides build up in myelin; the page covers diagnosis, exome sequencing and carrier testing.
Making up under 1% of prostate cancers, mPSCC may arise from castration-resistant adenocarcinoma; 18F-FDG PET/CT and repeat biopsy aid diagnosis.
MMACHC and PRDX1 changes underlie the digenic cblC type, which can bring developmental delays, neurological problems and bull's eye macular lesions.