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.
Faulty or scarce beta-sarcoglycan destabilizes the dystrophin-glycoprotein complex and leads to LGMD2E; naming the mutation supports earlier care and trial access.
Structural or expression defects in the calpain proteases upset signaling, cell growth and apoptosis in muscle tissue, and DNA analysis can trace them to variants.
Muscle weakness, difficulty walking and cardiac complications can follow SGCD gene mutations that leave delta-sarcoglycan missing or dysfunctional in muscle cells.
DYSF gene mutations reduce dysferlin, the protein that repairs muscle membranes, causing LGMD2B and Miyoshi Myopathy. Inheritance is autosomal recessive.
Boys with DMD lack working dystrophin, so muscle weakens from early childhood. Testing the dystrophin gene confirms the X-linked mutation and guides treatment.
Centronuclear myopathies tied to myotubularin loss cause muscle weakness. MTM1 gene testing identifies the mutation, supports diagnosis and informs family planning.
Faults in perlecan, an extracellular matrix protein, can affect bone growth, blood vessels and nerves. Exome sequencing or targeted panels look for HSPG2 mutations.
Plasmalogen deficiency underlies this autosomal recessive skeletal and neurological disorder. Type 3 is linked to AGPS, and testing supports genetic counseling.