Understanding Stargardt Disease, Dominant
Central vision declines from childhood in the dominant form of Stargardt disease, caused by an ELOVL4 mutation; carrier and prenatal testing are described.
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
Unlocking the Mysteries of Stargardt Disease: Genetic Testing and Diagnosis
Two mutated copies of ABCA4 let harmful visual-cycle byproducts damage the macula, blurring central vision; OCT, fundus autofluorescence and ERG aid diagnosis.
Unlocking the Mysteries of Stickler Syndrome: Genetic Testing and Beyond
Myopia, retinal detachment, hearing loss and joint pain feature in the dominant form of Stickler syndrome, which carries a 50% chance of passing to a child.
Stickler Syndrome: A Comprehensive Guide to Understanding, Diagnosing, and Genetic Testing
Myopia, retinal detachment, hearing loss and joint hypermobility mark recessive Stickler Syndrome; eye, hearing and imaging tests plus gene analysis confirm it.
Striatal Degeneration: Movement Symptoms and Testing
Involuntary movements, muscle stiffness and speech difficulty point to striatal degeneration; genetic testing can show which form, such as MSA, PSP or CBD.
Understanding, Diagnosing, and Using Genetic Testing for Nonalcoholic Fatty Liver Disease Susceptibility
Fat builds up in the liver of people who drink little or no alcohol; NAFLD can progress to NASH or cirrhosis, and genetic testing may help flag those at risk.
Syndromic Microphthalmia, Dominant: Testing and Risk
Eyes that are abnormally small or missing cause visual impairment from mild to severe; the dominant pattern gives an affected parent a 50% chance of passing it on.
Unlocking the Mysteries of Syndromic Microphthalmia, Recessive
Two copies of the mutated gene, one from each parent, cause recessive syndromic microphthalmia, which may also involve cleft lip and palate or short stature.