Porokeratosis of Mibelli: Unlocking the Potential of Genetic Testing
Ring-like patches with a thread-like border usually appear in childhood or early adulthood, and although generally benign, they carry a risk of malignant transformation.
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
Potassium-aggravated Myotonia: Genetic Testing's Promise in Precision Diagnosis
Stiffness that worsens after potassium-rich foods points to PAM, where SCN4A mutations disturb a sodium channel and lead to prolonged muscle contractions and cramps.
Progressive Familial Heart Block: A Genetic Testing Gateway to Heart Health
Conduction through the heart slows over time in PFHB, bringing arrhythmias and bradycardia; preprodynorphin gene mutations have been linked to the familial form.
Proactive Pathways: Genetic Testing and Proximal Spinal Muscular Atrophy
SMN1 mutations cut production of the survival motor neuron protein, while SMN2 copy number tracks with severity; newborn screening can find SMA before weakness starts.
Pseudo-Hurler Polydystrophy: Unraveling the Genetic Threads of a Rare Disease
Joint stiffness, skeletal changes and heart findings follow GNPTAB mutations that disrupt lysosomes in mucolipidosis III, inherited in an autosomal recessive pattern.
Pyruvate Dehydrogenase Complex Deficiency: A Genetic Testing Perspective
Explore how genetic testing aids in diagnosing and managing Pyruvate Dehydrogenase Complex Deficiency, offering insights into early intervention and personalized care.
Retinal Dystrophy: Unlocking the Genetic Code to Preserve Vision
Inherited degeneration of the retina can progress from night blindness to total sight loss, and HBS1L mutations affecting ribosomal rescue are one identified cause.
Retinitis Pigmentosa: Illuminating the Path with Genetic Testing
Photoreceptor loss in RP follows autosomal dominant, autosomal recessive or X-linked inheritance, and about half of cases still have no identified genetic cause.