MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
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).
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.
A mutation in the DNMT1 gene underlies HSNDDS, which combines sensory neuropathy, progressive hearing loss and dementia, a mix easily taken for other disorders.
Identifying a homozygous COQ7 variant confirms HSP47 and places it among COQ7-related disorders, alongside the progressive leg weakness and spasticity patients notice.
Faults in the HPS3 gene disturb lysosome-related organelles. Care can include regular eye exams, skin protection and watching for bleeding and pulmonary fibrosis.
Melanosomes give skin, hair and eyes their color; HPS4 mutations disrupt how they form, alongside bleeding problems and sometimes pulmonary fibrosis or colitis.
Platelet dysfunction causes prolonged bleeding in HPS5, which also brings hypopigmentation of skin, hair and eyes and a risk of pulmonary fibrosis over time.
Interstitial lung disease and oculocutaneous albinism define HPS-6. Treatment may involve supplemental oxygen, corticosteroids, antifibrotics or lung transplant.
People with HPS-7 may show hypopigmentation, bleeding tendencies and lung problems, all traced to DTNBP1 changes that disturb lysosome-related organelles.
BLOC1S3 mutations sit behind HPS-8, combining oculocutaneous albinism, bleeding problems and pulmonary fibrosis, as a reported case of respiratory failure illustrates.