Unlocking the Mystery of GBE1-Related Disorders: A Comprehensive Guide
Faulty glycogen branching enzyme lets abnormal glycogen collect in liver and muscle, and GBE1 testing separates APBD, GSD IV and the perinatal neuromuscular variant.
Brandon Colby, MD
MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
About Brandon
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).
Education
- BA in Genetics with Honors, University of Michigan · 2000
- MD, Mount Sinai School of Medicine · 2004
- MBA, Stanford University Graduate School of Business · 2007
Affiliations & Memberships
- Affiliate Specialist, American College of Medical Genetics and Genomics (ACMG)
- Associate, American College of Preventive Medicine (ACPM)
- Member, 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.
Articles by Brandon
Understanding, Diagnosing, and Using Genetic Testing for GJB6-Related Disorders
Mutations in GJB6 alter connexin 30 and can cause Clouston syndrome, DFNA3 or DFNB1 hearing loss and peripheral neuropathy; care targets the symptoms present.
Decoding GLI3-Related Disorders: Understanding, Diagnosing, and Genetic Testing
Extra fingers or toes, fused skin and skull differences point to Greig cephalopolysyndactyly or Pallister-Hall syndrome; three types of GLI3 test are described.
Deciphering GNPTAB-Related Disorders: Understanding, Diagnosing, and Genetic Testing
Loss of N-acetylglucosamine-1-phosphotransferase disrupts lysosomal enzyme targeting; urine oligosaccharides and GNPTAB sequencing tell the types apart.
Unlocking the Mysteries of GPSM2-Related Disorders: Genetic Testing and Beyond
Hearing loss, intellectual disability and brain abnormalities follow GPSM2 mutations, as in Chudley-McCullough syndrome, which sequencing can confirm.
Unraveling the Mysteries of HBB-Related Disorders
Discover the importance of understanding HBB-related disorders, their diagnosis, and the vital role of genetic testing in managing sickle cell anemia, beta-thalassemia, and more.
Unraveling the Mysteries of Hereditary Multiple Osteochondromatosis
Benign cartilage-capped bone tumors grow throughout the skeleton in HMO; EXT1 or EXT2 mutations are autosomal dominant, and testing also flags chondrosarcoma risk.
Decoding Hirschsprung Disease: The Role of Genetic Testing in Diagnosis and Management
Missing ganglion cells in the colon cause constipation, abdominal swelling and failure to pass meconium, with rectal biopsy and barium enema used to confirm it.