Probing Pyruvate Dehydrogenase E1-beta Deficiency: The Role of Genetic Testing
Explore how genetic testing aids in diagnosing pyruvate dehydrogenase E1-beta deficiency, a mitochondrial disorder affecting energy conversion and neurological function.
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
Revealing Rafiq Syndrome: The Role of Genetic Testing in Understanding and Managing a Rare Disorder
Developmental delays, intellectual disability and physical anomalies mark this rare disorder. Targeted gene panels or exome sequencing can confirm Rafiq Syndrome.
Recurrent Infections Associated with Rare Immunoglobulin Isotypes Deficiency: A Genetic Testing Perspective
Missing IgA or IgE leaves the immune system short of key antibodies, leading to repeated respiratory and gut infections. IGHA1 and IGHE mutations have been linked.
Retinitis Pigmentosa 60: Revolutionizing Diagnosis with Genetic Testing
Identifying the mutation behind RP60 allows monitoring to begin before symptoms appear and clarifies whether a patient qualifies for emerging gene therapies.
Revealing the Genetic Mysteries of Retinitis Pigmentosa 62
Autosomal dominant, autosomal recessive and X-linked patterns all occur in RP62. Knowing which mutation is present shapes counseling and monitoring.
Solving the Mystery of Sclerosteosis 2: The Role of Genetic Testing
Excess bone growth, especially in the skull, can compress nerves and raise intracranial pressure. LRP4 mutations distinguish this form from SOST-linked Sclerosteosis 1.
Short-Rib Thoracic Dysplasia 10 with or without Polydactyly: Unraveling the Genetic Threads
Thoracic insufficiency from shortened ribs is the central risk in SRTD10; DYNC2H1 variants disturb cilia, and early or prenatal testing guides management.
Shaping the Future: Genetic Testing for Short-rib Thoracic Dysplasia 7 with or without Polydactyly
A novel deletion and missense variant in WDR35 have been reported in SRTD7, a skeletal disorder with shortened ribs, a narrow thorax and sometimes extra digits.