Decoding the Enigma of Late-Onset Axial Myopathy: A Comprehensive Guide
Discover the role of genetic testing in diagnosing late-onset axial myopathy, its connection to related neuromuscular disorders, and improving patient outcomes.
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
Beta-hexosaminidase A Pseudodeficiency: HEXA Testing
Benign HEXA changes such as Arg247Trp and Arg249Trp leave 35-40% enzyme activity without neurological disease, so DNA testing tells them from Tay-Sachs mutations.
SID Blood Group System: Sda Antigen and B4GALNT2
Whether red cells carry the Sda antigen depends on B4GALNT2 enzyme activity. Typing by PCR and sequencing informs transfusion, transplant and prenatal care.
Brachydactyly Type B1 and Robinow Syndrome, Side by Side
Gene testing tells these two rare disorders apart: Brachydactyly Type B1 shortens the digits, while Robinow syndrome adds short stature and distinctive facial features.
Branchiootorenal Spectrum Disorders: EYA1, SIX1 and SIX5
Hearing loss, kidney abnormalities and branchial cleft anomalies occur together in BORSD, where testing EYA1, SIX1 and SIX5 finds a cause in 10-30% of patients.
Decoding the Genetic Links: Understanding Breast and Colorectal Cancer
Familial Colorectal Cancer Type X, a germline BARD1 deletion and the gut microbiota all feature in this account of inherited breast and colorectal cancer risk.
Decoding the Genetic Puzzle: Understanding Breast and Colorectal Cancer Susceptibility
One meta-analysis ties the p53 codon 72 Arg/Arg genotype to breast cancer risk, while other work argues against a shared genetic basis with colorectal cancer.
Brugada Syndrome with a Short QT Interval: Testing
Arrhythmias causing fainting, seizures or sudden cardiac death are easy to confuse with long QT syndrome, so SCN5A results aid risk stratification and relatives' testing.