Pinpointing Peroxisome Biogenesis Disorder 10A (Zellweger): The Role of Genetic Testing
Hypotonia, seizures, liver dysfunction and distinctive facial features appear in the first year of life in the most severe Zellweger spectrum disorder.
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 11A (Zellweger): The Role of Genetic Testing
Impaired vision and hearing, developmental delay and liver dysfunction follow failed peroxisome formation; the mutation found helps predict how this disorder progresses.
Peroxisome Biogenesis Disorder 11B: Signs and Testing
PBD11B disrupts peroxisome formation, bringing developmental delays, neurological impairments and metabolic abnormalities that genetic testing can help explain.
Perceiving the Perils of Peroxisome Biogenesis Disorder 12A (Zellweger): The Role of Genetic Testing
Peroxisomes fail to form when PEX genes are mutated, producing the developmental delay, hearing and vision problems and liver dysfunction seen from birth.
Perplexing Pathways: Understanding Peroxisome Biogenesis Disorder 13A (Zellweger) Through Genetic Testing
Early infancy is when this Zellweger Spectrum condition tends to appear, with developmental delays, liver dysfunction and distinctive facial features.
Peroxisome Biogenesis Disorder 14B: Unraveling the Genetic Threads
Novel mutations in the PEX11B gene have been linked to PBD 14B, with congenital cataract described as an early feature that prompts closer testing.
Peroxisome Biogenesis Disorder 3A (Zellweger): Unraveling the Genetic Threads of a Complex Condition
Infants with Zellweger syndrome may show hypotonia, seizures and distinctive facial features; pinpointing the mutation informs prognosis and family planning.
Peroxisome Biogenesis Disorder 4A (Zellweger): Unraveling the Genetic Mysteries
Peroxisome biogenesis disorder 4A stops peroxisomes forming properly, causing neurological impairment, liver dysfunction and vision and hearing problems.