Unlocking the Mysteries of USH2A-Related Disorders: A Comprehensive Guide
Mutations in USH2A disrupt usherin in the retina and inner ear, producing Usher syndrome type 2A, nonsyndromic retinitis pigmentosa or nonsyndromic hearing loss.
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 VSX2-related Microphthalmia
Small, malformed eyes with cataracts or retinal detachment can follow VSX2 mutations; targeted, sequence and deletion/duplication analysis confirm this disorder.
Demystifying WFS1-Related Spectrum Disorders: A Comprehensive Guide
The WFS1 gene makes wolframin, and mutations in it can cause Wolfram syndrome, low-frequency sensorineural hearing loss or optic atrophy. Carrier testing is covered.
Unlocking the Mystery of Zonular Pulverulent Cataract: A Guide to Genetic Testing
Powdery lens opacities present from birth define this congenital cataract, associated with CRYBA1, CRYBA4, CRYBB1, CRYBB2 and CRYBB3 gene changes.
Understanding, Diagnosing, and Using Genetic Testing for 46,XY DSD/46,XY CGD
Ambiguous genitalia and incomplete sexual development prompt hormone tests and imaging, then sequencing of SRY, AR, NR5A1 and DHH or whole exome sequencing.
ABCA1-Related Disorders: Tangier Disease and Low HDL
Low HDL cholesterol, orange tonsils and peripheral neuropathy can point to Tangier disease or familial HDL deficiency, both traced to ABCA1 mutations.
Decoding the Mysteries of ABCA4-Related Disorders: A Guide to Understanding, Diagnosing, and Genetic Testing
Stargardt disease, cone-rod dystrophy and retinitis pigmentosa share ABCA4 mutations; ERG, OCT and imaging narrow it down and DNA testing names the variant.
Deciphering ABCB4-Related Intrahepatic Cholestasis: A Guide to Diagnosis and Genetic Testing
Discover ABCB4-related intrahepatic cholestasis, its manifestations, and the crucial role of genetic testing in diagnosing PFIC3, gallstones, and ICP. Explore potential therapies.