Understanding, Diagnosing, and Using Genetic Testing for PEX7-Related Disorders
Rhizomelic chondrodysplasia punctata and Refsum disease both trace back to PEX7 mutations that disturb peroxisome biogenesis, and both are autosomal recessive.
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
Understanding, Diagnosing, and Using Genetic Testing for POLR1C-Related Disorders
Facial abnormalities, developmental delays and immune dysfunction appear across POLR1C-related disorders, which include Treacher Collins syndrome and leukodystrophies.
Unlocking the Mysteries of POMGNT1-Related Disorders
Mutations in POMGNT1 underlie muscle-eye-brain disease, Walker-Warburg syndrome and LGMD2O, with muscle weakness, intellectual disability and eye abnormalities.
Understanding, Diagnosing, and Using Genetic Testing for Recessive Primary Microcephaly
Two copies of a mutated gene, one from each parent, cause MCPH; growth charts, MRI and DNA testing confirm it, and carrier or prenatal testing is open to families.
Unraveling the Mystery: Understanding and Diagnosing Progressive Neurodegenerative Disease
Alzheimer's, Parkinson's and Huntington's disease and ALS all involve gradual neuron loss; APP, PSEN1, PSEN2 and HTT results can confirm inherited forms.
Decoding PRPH2-Related Disorders: A Comprehensive Guide
Faulty peripherin-2 destabilizes photoreceptors, causing retinitis pigmentosa, macular, pattern or cone-rod dystrophy; ERG, OCT and gene testing confirm the diagnosis.
Unlocking the Mystery: Pulmonary Surfactant Metabolism Dysfunction, Dominant
SFTPC mutations disturb surfactant protein C, leaving rapid breathing, wheezing and recurrent infections; blood testing confirms the subtype and supports carrier checks.
Understanding, Diagnosing, and Using Genetic Testing for Pulmonary Surfactant Metabolism Dysfunction, Recessive
SFTPB, SFTPC, ABCA3 and NKX2-1 mutations can leave a newborn in respiratory distress, and testing supports carrier screening, prenatal diagnosis and PGD before IVF.