Progressive Supranuclear Ophthalmoplegia: POLG and TWNK
Eye-muscle weakness and paralysis can mimic other neurological disorders, so POLG and TWNK results matter for telling PSO apart and for genetic counseling.
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
Decoding the Mystery: Proteasome-Associated Autoinflammatory Syndrome 1, Digenic
Recurrent fever, rash and joint pain follow proteasome subunit mutations that let misfolded proteins build up; eight novel variants were found in five PRAAS1D cases.
Decoding PURA Syndrome: Understanding, Diagnosing, and Using Genetic Testing
Discover PURA Syndrome, its symptoms, and the importance of genetic testing in diagnosing this rare genetic disorder. Learn how testing helps guide treatment and research.
Rare Isolated Myopia: Severe Nearsightedness and Genes
Vision loss from extreme, non-syndromic nearsightedness can progress to blindness. Whole exome sequencing looks for the single-gene cause of rare isolated myopia.
Unlocking the Mysteries of Recurrent Pancreatitis: Genetic Testing and Beyond
Pancreas inflammation that returns can stem from variants in PRSS1, SPINK1, CTRC, CPA1 or CFTR. In one study of Japanese children, 39.1% carried at least one mutation.
Unlocking the Mystery of Recurrent Subcortical Infarcts: CADASIL Syndrome
Discover CADASIL Syndrome, a rare genetic disorder causing recurrent subcortical infarcts. Learn about diagnosis, genetic testing, and early detection for better management.
Decoding the Mystery of Reduced Factor IX Activity: Genetic Testing Unveils the Path
Hemophilia B follows from F9 gene defects on the X chromosome, so males are affected and females may carry it. Testing identifies the variant for carrier screening.
Unlocking the Mysteries of Reduced Phenylalanine Hydroxylase Levels: A Guide to Understanding, Diagnosing, and Genetic Testing
Too little PAH enzyme lets phenylalanine build up in the blood, causing neurological problems. Newborn screening and PAH gene testing confirm PKU.