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.
KCNJ5 mutations disturb an ion channel controlling aldosterone production, causing the hypertension of FH-III and setting it apart from other forms of the disorder.
Skeletal abnormalities, short stature and susceptibility to infection and cancer feature in group P, one of the less common forms among the 22 known FA genes.
For people with a family history of FTD or ALS, DNA testing can confirm FTD/ALS6, shape care plans and inform PGD choices, though some results stay uncertain.
Without a working FUT6 enzyme, the body cannot attach fucose to glycoproteins and glycolipids; genetic testing can confirm the deficiency and inform counseling.
Muscle weakness, fatigue and possible organ damage mark GSD XV; DNA analysis can replace muscle biopsy, subtype the disease and inform genetic counseling.
Because COQ7 helps build coenzyme Q10, a variant in it can upset cellular energy and cause HSP 51, a finding that may point toward coenzyme Q10 supplementation.
A biallelic loss-of-function variant in DAND5 impairs nodal signaling and the left-right asymmetry that sets organ position, following recessive inheritance.
Specific genetic variations raise the risk of missing ganglion cells in the colon, and stem-cell models are being used to study the condition and test new drugs.