Understanding, Diagnosing, and Using Genetic Testing for Epidermolysis Bullosa Dystrophica
Loss of working type VII collagen causes the blistering, milia, scarring, fused digits and dysphagia seen in EBD; skin biopsy and COL7A1 testing confirm it.
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 Episodic Ataxia Type 2
EA2 causes bouts of poor coordination, a drunken gait and tremor, triggered by exertion, stress or caffeine, and is linked to CACNA1A gene mutations.
Understanding, Diagnosing, and Using Genetic Testing for Esophageal Squamous Cell Carcinoma
Esophageal squamous cell carcinoma insights: symptoms, diagnosis, and the critical role of genetic testing in tailoring treatments, monitoring, and risk assessment.
Understanding Familial Hypercholesterolemia: Diagnosis and Genetic Testing
Familial Hypercholesterolemia (FH) leads to high cholesterol and cardiovascular risks. Genetic testing confirms FH, guides treatments, and identifies at-risk family members.
Understanding, Diagnosing, and Using Genetic Testing for Familial Visceral Amyloidosis, Ostertag Type
Amyloid deposits in the liver, spleen and kidneys follow an autosomal dominant pattern; Congo red staining of a biopsy and TTR testing confirm the diagnosis.
Understanding, Diagnosing, and Using Genetic Testing for Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
Mutations in the TBK1 gene reduce kinase activity and drive apoptosis and inflammation in both FTD and ALS; clinical exams, MRI and genetic testing confirm it.
Understanding, Diagnosing, and Using Genetic Testing for G6PD Deficiency
G6PD deficiency affects red blood cells, leading to hemolytic anemia. Learn about diagnosis, genetic testing, and management of this hereditary condition effectively.
Understanding Gallbladder Cancer: Diagnosis and the Role of Genetic Testing
Gallstones and chronic inflammation raise gallbladder cancer risk, while jaundice and weight loss appear late; imaging, biopsy and TP53 or KRAS testing guide care.