Exploring the Genetic Landscape of Epidermolysis Bullosa Simplex, Ogna Type
Plectin, made by the PLEC gene, holds skin cells together; when it fails blisters form on hands, feet and sometimes mucous membranes, and testing pins down the subtype.
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
Exploring Epidermolytic Palmoplantar Keratoderma: The Role of Genetic Testing
Uncover how genetic testing aids in diagnosing Epidermolytic Palmoplantar Keratoderma, a rare skin disorder marked by thickened skin on palms and soles.
Familial Erythroleukemia Risk: What Testing Shows
Inherited susceptibility to this aggressive acute myeloid leukemia can be assessed by DNA testing, which informs monitoring, treatment choices and counseling.
Essential Hypertension: Unraveling the Genetic Threads
Research in the Hakka population ties the APOE rs7412 T/T genotype to higher blood pressure risk, with implications for screening, counseling and drug choice.
Genetic Guidance in Euthyroid Goiter: A Path to Precision
Thyroid enlargement with normal hormone levels may be diffuse or nodular; iodine deficiency, goitrogens and inherited risk are covered, plus a Pendred syndrome case.
Exostoses, Multiple, Type 1: Exploring Genetic Testing for Early Detection and Management
Benign bone tumors called osteochondromas develop in childhood in hereditary multiple exostoses; EXT1 and EXT2 testing supports monitoring and family planning.
Exposing the Genetic Blueprint: Understanding Exostoses, Multiple, Type 2 through Genetic Testing
A single altered copy of EXT1 or EXT2 disrupts heparan sulfate synthesis and bone growth; next-generation and whole exome sequencing can confirm the diagnosis.
Exploring Exudative Vitreoretinopathy 1: The Promise of Genetic Testing
Retinal blood vessels form abnormally in EVR1, risking detachment and vision loss; CAPSL variants tied to the MYC axis can be identified through genetic testing.