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.
Mutations affecting clotting factors II, VII, IX and X reduce the blood's ability to clot, causing excessive bleeding and easy bruising; DNA analysis confirms it.
GCNT2 variants stop the i antigen converting to I on red blood cells, giving the adult i blood group; the same gene has been tied to congenital cataracts.
Altered albumin variants from a mutation in the human serum albumin gene are usually benign, though the page links them to kidney dysfunction and autoimmune disorders.
A dysfunctional alsin protein, the result of ALS2 mutations, lets motor neurons degenerate, causing progressive stiffness and weakness that begin in the lower limbs.
The sarcomere is where this goes wrong: myosin gene mutations disrupt the myosin-actin interaction, impairing muscle function and leading to dilated cardiomyopathy.
Inheriting two copies of a mutated gene causes this early-onset, slowly progressing ALS; FUS, SETX and ALS2 are among the mutations testing can identify.
Iron-loaded sideroblasts and low hemoglobin mark this inherited anemia; testing finds ALAS2 and HSPA9 mutations, and pyridoxine does not help this subtype.
Conditions that resemble Angelman syndrome can trace to SLC9A6 changes, Ube3a dosage or Rett-like genes, so testing separates them from Angelman itself.