Decoding the Mystery of Autosomal Dominant Epidermolysis Bullosa Pruriginosa
Intense itching with nodular or lichenoid lesions sets EBP apart; the page covers dominant transmission, COL7A1 variants, skin biopsy and CRISPR-Cas9 research.
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
Unlocking the Mysteries of Epilepsy: Understanding Juvenile Absence 2
Episodes of unresponsiveness lasting seconds can later give way to myoclonic jerks; ADGRV1 emerges as a susceptibility gene, with EEG traits seen in unaffected relatives.
Decoding the Mystery of Juvenile Myoclonic Epilepsy 7: A Comprehensive Guide to Understanding, Diagnosing, and Genetic Testing
Jerks that strike soon after waking, often with tonic-clonic or absence seizures, start in adolescence; EEG, TMS and genetic testing for JME7 are described.
Juvenile Myoclonic Epilepsy 8: Genes and Testing
Myoclonic seizures that start in adolescence, the GJD2 T allele link and what genetic testing for JME can offer families, including SUDEP risk research.
Erythrocyte AMP Deaminase Deficiency and AMPD3
Low AMP deaminase activity shortens red blood cell lifespan and can cause hemolytic anemia; enzyme assays and AMPD3 testing identify affected people and carriers.
Decoding Familial Ectopia Lentis: Understanding, Diagnosing, and Exploring Genetic Testing
Discover the role of genetic testing in diagnosing Familial Ectopia Lentis, guiding treatment decisions, and improving surgical outcomes for better vision.
Family History of Sudden Cardiac Death: Genetic Testing
Exome and next-generation sequencing have named pathogenic variants in affected relatives, informing monitoring, medication, defibrillator and reproductive decisions.
Fasting Plasma Glucose Level QTL 1 and Diabetes Risk
Markers at this chromosomal region influence fasting glucose levels and can be read through whole-genome sequencing or targeted genotyping as part of risk work.