Understanding Cataract 6 Multiple Types: Diagnosis and Genetic Testing
Often affecting both eyes, Cataract 6 may be present at birth or develop later. Visual acuity, slit-lamp and retinal exams are described, with what mutation testing adds.
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, Diagnosing, and Using Genetic Testing for Central Core Myopathy
Muscle weakness in the hips, thighs and shoulders with cores seen on biopsy suggests central core myopathy; RYR1 analysis helps when a biopsy is inconclusive.
Understanding, Diagnosing, and Using Genetic Testing for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Each child of an affected parent has a 50% chance of inheriting the NOTCH3 mutation behind CADASIL, so confirming it guides monitoring, management and family planning.
Understanding, Diagnosing, and Using Genetic Testing for Cerebro-Costo-Mandibular Syndrome
Explore Cerebro-Costo-Mandibular Syndrome: symptoms, diagnosis, and the vital role of genetic testing. Learn how genetic insights can guide personalized care plans.
Understanding, Diagnosing, and Using Genetic Testing for Charcot-Marie-Tooth Disease Type 1B
Myelin protein zero, made by the MPZ gene, keeps the nerve sheath intact; its disruption in CMT1B brings weakness and sensory loss in the legs and feet.
Understanding, Diagnosing, and Using Genetic Testing for Charcot-Marie-Tooth Disease Type 1E
Weakness and atrophy that begin in the lower legs and feet point to CMT1E; PMP22 testing can confirm it when nerve studies are inconclusive.
Understanding, Diagnosing, and Using Genetic Testing for Charcot-Marie-Tooth Disease Type 2A1
Charcot-Marie-Tooth disease type 2A1 affects peripheral nerves, causing muscle weakness. Genetic testing confirms diagnosis, helps with early intervention, and guides research.
Understanding, Diagnosing, and Utilizing Genetic Testing for Charcot-Marie-Tooth Disease, Type IA
A duplication of the PMP22 gene on chromosome 17 causes CMT1A. High arches, hammertoes, nerve conduction studies and EMG point toward the diagnosis.