Peroxisome Biogenesis Disorder 8B: Paths to Precision with Genetic Testing
An autosomal recessive condition of the Zellweger spectrum, PBD 8B follows PEX gene mutations and can bring hypotonia, seizures and vision or hearing impairment.
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
Perplexing Peroxisome Biogenesis Disorder 9B: Unraveling the Genetic Threads
Symptoms differ widely between people with PBD 9B, which is linked to PEX7 mutations and, unlike related disorders, usually lacks chondrodysplasia or rhizomelia.
Perrault Syndrome 2: The Promise of Genetic Testing in Diagnosis and Management
Inherited in an autosomal recessive pattern, Perrault Syndrome 2 combines ovarian dysgenesis and primary amenorrhea with sensorineural deafness in both sexes.
Probing the Pathways: Understanding PGM1-Congenital Disorder of Glycosylation
Phosphoglucomutase 1 converts glucose-1-phosphate to glucose-6-phosphate, so PGM1 mutations impair glycosylation and energy production across several body systems.
Pidermolysis Bullosa, Junctional 7 (JEB7): Lung and Kidney
Skin that blisters after minor trauma is compounded by interstitial lung disease and nephrotic syndrome in JEB7, and testing points to the mutations responsible.
Pontocerebellar Hypoplasia Type 10: Unraveling the Genetic Threads of a Rare Disorder
Pontocerebellar Hypoplasia Type 10 insights: genetic testing for early diagnosis, personalized treatment, and family planning options. Unlock understanding of PCH10.
Pioneering Paths: Genetic Testing for Pontocerebellar Hypoplasia Type 7
TOE1 variants disturb RNA processing in PCH7, and people carrying the same variant can differ widely in symptoms, which is why counseling accompanies genetic testing.
Pontocerebellar Hypoplasia Type 8 Signs and CHMP1A Testing
Muscle stiffness, poor coordination and delayed motor milestones appear in infancy with PCH8, and a homozygous CHMP1A variant has been reported as a cause.