Outlining Oculocutaneous Albinism: Genetic Testing's Role in Diagnosis and Management
Mutations in TYR, OCA2, TYRP1 and SLC45A2 disrupt melanin production, causing pale skin, light hair and nystagmus in oculocutaneous albinism.
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
Oguchi Disease: Unraveling the Genetic Mysteries of Night Blindness
Trouble seeing in low light can signal stationary night blindness; a GRK1 mutation distinguishes Oguchi disease from autosomal recessive retinitis pigmentosa.
Osteogenesis Imperfecta: Understanding the Role of Genetic Testing in Diagnosis and Management
Defects in collagen genes including COL1A1, COL1A2 and SERPINF1 make bones fragile; testing supports diagnosis when symptoms are ambiguous and guides counseling.
Ovarian Granulosa Cell Tumors: FOXL2 and Recurrence
Rare sex cord-stromal tumors that grow slowly but can return years later, OGCTs often carry FOXL2 mutations that set them apart from epithelial ovarian cancers.
Pinpointing Patterned Dystrophy of the Retinal Pigment Epithelium: The Role of Genetic Testing
Lipofuscin builds up in the retinal pigment epithelium, blurring vision and impairing low-light sight; OTX2 mutations cause this autosomal dominant dystrophy.
Unraveling the Mysteries of Peroxisomal Disorder: The Role of Genetic Testing
Faulty peroxisomes disrupt fatty acid breakdown and detoxification, causing neurological deficits, liver problems and developmental delay in this diverse group.
Perplexing Pathways: Understanding Peroxisome Biogenesis Disorder
Poorly formed peroxisomes disturb metabolism and cholesterol trafficking, which keeps polycystin-2 in cilia; PBD often appears in infancy with neurological problems.
Polyarteritis Nodosa: Unraveling the Mysteries with Genetic Testing
Inflammation of small and medium-sized arteries can damage the kidneys, heart and gut; PAN is now a distinct vasculitis managed with immunosuppressive drugs.