New Horizons in Diagnosing Neuronal Ceroid Lipofuscinosis 13: The Role of Genetic Testing
Cathepsin F loss leaves lysosomes unable to clear waste, and lipofuscin builds up in neurons; CTSF analysis separates CLN13 from related NCL disorders.
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
Navigating Noonan Syndrome 8: The Role of Genetic Testing
Congenital heart defects, short stature and developmental delays occur in this RASopathy. Exome sequencing can point to causal mutations and genetic modifiers.
Ocular Insights: Understanding Genetic Testing for Oculocutaneous Albinism Type 7
Underdeveloped retinas and abnormal optic nerve pathways distinguish OCA7, a form researchers have proposed renaming ocular albinism type 2 for its eye focus.
Ominous Origins: Unraveling Osteogenesis Imperfecta Type 14 Through Genetic Testing
A mutation in SP7/OSX, described in a consanguineous Arab family, causes OI type 14 with brittle bones, dentinogenesis imperfecta and craniofacial anomalies.
Osteogenesis Imperfecta Type 15: Unraveling Genetic Threads for Better Diagnosis and Management
Brittle bones in Osteogenesis Imperfecta Type 15 trace to mutations in the collagen type I alpha 1 gene, which also help predict severity and inform family planning.
Osteosclerotic Metaphyseal Dysplasia: Unlocking the Mysteries with Genetic Testing
Increased bone density at the growing ends of long bones can bring pain and deformity in childhood; DNA testing separates OMD from other skeletal dysplasias.
Pioneering Paths in Palmoplantar Keratoderma, Nagashima Type: The Role of Genetic Testing
PPKNT is caused by mutations in SERPINB7, a gene that helps hold the skin barrier together, and testing distinguishes it from other ichthyosis-related disorders.
Paroxysmal Nocturnal Hemoglobinuria: Unlocking Genetic Testing's Potential
Red blood cells lose their protection when the PIGA gene is mutated, causing hemolysis, fatigue, abdominal pain and dark urine; flow cytometry aids diagnosis.