Ehlers-Danlos Type 3 (hEDS): Symptoms and Testing
Joint hypermobility, chronic pain, fatigue and easy bruising define hypermobility EDS, which still has no specific genetic marker and is hard to distinguish.
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 the Enigma: Understanding Ehlers-Danlos Syndrome, Type 4
Fragile blood vessels, thin skin and joint hypermobility trace back to COL3A1 mutations affecting type III collagen, with arterial and organ rupture as risks.
Decoding the Flexibility Enigma: Understanding Joint Hypermobility Syndrome
Joints that move beyond the normal range can bring pain and dislocations. Covers the Beighton score and testing that separates it from EDS or Marfan syndrome.
Loeys-Dietz Syndrome: Unraveling the Genetic Threads of a Complex Condition
Disrupted TGF-β signaling from changes in TGFBR1, TGFBR2, SMAD3, TGFB2 or TGFB3 produces aortic aneurysms, arterial tortuosity, hypertelorism and a bifid uvula.
Marfan Syndrome: Unraveling the Genetic Threads of a Complex Disorder
Changes in FBN1 alter fibrillin-1 and weaken connective tissue in the heart, skeleton and eyes. Inheritance is autosomal dominant, a 50% chance for each child.
AGK-Related Disorders: Sengers Syndrome & Cataract 38
Learn how disease-causing variants in the AGK gene cause Sengers syndrome and a rare inherited cataract, and how these conditions are inherited.
Decoding the Mystery: Acquired Susceptibility to Long QT Syndrome 1
Medicines and electrolyte imbalances can bring on this acquired form of long QT syndrome; rare CYP variants act as pharmacogenomic risk markers.
What Is a Variant?
A genetic variant is a change in a gene's DNA sequence. Learn what variants are, how they differ from mutations, and what they mean for health.