Peroxisome Biogenesis Disorder 4B: Unraveling the Genetic Mysteries
Explore how genetic testing aids in diagnosing and managing Peroxisome Biogenesis Disorder 4B, enhancing personalized care and guiding family planning decisions.
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
Probing Peroxisome Biogenesis Disorder 5A (Zellweger): The Role of Genetic Testing
Analyzing DNA for PEX gene mutations confirms PBD 5A and opens the way to supportive care such as physical therapy, nutritional support and seizure management.
Peroxisome Biogenesis Disorder 5B: Understanding the Role of Genetic Testing
Mutations in PEX1, PEX6 or PEX26 disrupt peroxisome function in PBD 5B, a rare disorder with developmental delays, neurological problems and liver dysfunction.
Peroxisome Biogenesis Disorder 6A (Zellweger): The Genetic Testing Gateway
Ophthalmic abnormalities are common in this Zellweger Spectrum disorder and can be early indicators, while identifying PEX gene mutations confirms the diagnosis.
Perplexing Pathways: Understanding Peroxisome Biogenesis Disorder 6B
Impaired peroxisome biogenesis changes how the body breaks down fats and detoxifies, with effects in PBD 6B ranging from neurological deficits to liver dysfunction.
Perils and Possibilities: Genetic Testing for Peroxisome Biogenesis Disorder 7A (Zellweger)
Defects in the PEX genes underlie PBD 7A, producing neurological, hepatic and renal dysfunction whose severity and age of onset differ widely between patients.
Peroxisome Biogenesis Disorder 7B: Unraveling the Genetic Threads
Within the Zellweger spectrum, PBD 7B affects the breakdown of very long-chain fatty acids and plasmalogen synthesis, which matter for brain and lung function.
Pinpointing Peroxisome Biogenesis Disorder 8A (Zellweger): The Role of Genetic Testing
Newborns with this form of Zellweger syndrome may have hypotonia, seizures, liver dysfunction and distinctive facial features tied to PEX16 gene mutations.