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.
Population studies tie T2DM risk to TCF7L2 rs12255372, GLO1, IL-6 rs1800796 and CDKN2B-AS, SOD2 and PON1 variants, and the page weighs what such testing can inform.
COL2A1 changes underlie disorders such as SEDC, Kniest Dysplasia and Stickler Syndrome, diagnosed with exome sequencing, MLPA and genotype-phenotype analysis.
Joint contractures with enlarged brain ventricles may point to a syndrome such as ALKURAYA-KUčINSKAS, linked to KIAA1109 variants, or to a congenital infection.
Neurological involvement such as Hirschsprung's disease sets WS2E apart from other forms; SOX10 sequencing or deletion analysis confirms the diagnosis.
Deafness, pigmentation anomalies and facial features such as a wide nasal bridge follow SOX10 mutations; management covers hearing aids, implants and lenses.
Unusually low warfarin doses or bleeding complications can prompt DNA analysis of CYP2C9, VKORC1 and CYP4F2 from a blood or saliva sample in specialized labs.
WT1 mutations can affect the kidneys, gonads and adrenal glands and carry a predisposition to neoplasia; the exact variant informs prognosis and prenatal diagnosis.
Cellular energy production drops when the respiratory chain's protein complexes fail, a pattern seen in complex I deficiency and in Barth syndrome.