Exploring Ehlers-Danlos Syndrome, Arthrochalasis Type: Genetic Testing as a Guiding Light
Congenital hip dislocation and severe joint hypermobility set EDS-AT apart from other connective tissue disorders, with collagen gene mutations behind 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
Ehlers-Danlos Progeroid Type: Diagnosis and Genetics
Features resembling premature aging accompany the hypermobility, stretchy skin and tissue fragility of EDS in this rare form, which DNA analysis can confirm.
Exploring Elliptocytosis 2: Genetic Testing as a Gateway to Understanding
Inherited in an autosomal dominant pattern, this form ranges from no symptoms at all to anemia, fatigue and jaundice, with SPTA1 or SPTB mutations behind it.
Understanding Emery-Nelson Syndrome: The Role of Genetic Testing
Cardiac defects, growth retardation and distinctive facial features are described in this rare syndrome, which the page attributes to RAF1 deficiency.
Epidermolysis Bullosa Simplex 1A, Generalized Severe: Unlocking the Genetic Code
Widespread blistering from infancy traces back to keratin 5; an intronic KRT5 deletion causing exon skipping is described, with testing, counseling and trial options.
Exploring Epidermolysis Bullosa Simplex 1C, Localized: The Role of Genetic Testing
Keratin 5 changes weaken skin cells in the localized subtype, where blisters cluster on the hands and feet; testing confirms it and shapes wound care and counseling.
Exploring Epidermolysis Bullosa Simplex, Koebner Type: The Role of Genetic Testing
Painful wounds follow small knocks and rubbing in the Koebner type, where exome sequencing found the KRT5 mutation p.L325H and confirmed dominant inheritance.
Exploring Epidermolysis Bullosa Simplex with Mottled Pigmentation: The Role of Genetic Testing
Patchy pigment change alongside fragile skin points to keratin 5 mutations; one novel and two recurrent variants found in Chinese patients are described here.