Ehlers-Danlos Syndrome, Classic Type, 2: Exploring the Role of Genetic Testing
Easy bruising joins stretchy skin and loose joints in classic type 2, which follows autosomal dominant inheritance with a 50% chance of passing to a child.
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
Familial Exudative Vitreoretinopathy: Decoding the Genetic Blueprint for Better Diagnosis and Management
Disrupted development of the retina's blood vessels can mean anything from mild vision loss to blindness, with variants in NDP, FZD4, LRP5 and TSPAN12 implicated.
Finding Clarity: Understanding Familial Idiopathic Steroid-Resistant Nephrotic Syndrome
Steroid therapy fails in this inherited nephrotic syndrome, where mutations in NPHS2, WT1 and PLCE1 damage the glomeruli and let protein leak into the urine.
Facing Familial Isolated Restrictive Cardiomyopathy: The Role of Genetic Testing in Early Detection and Management
Stiffened heart chambers fill poorly, causing fatigue, breathlessness and swelling in the legs and abdomen; a FLNC variant is tied to early onset and severe outcomes.
Familial Melanoma: Unveiling the Genetic Maze
Melanoma in two or more first-degree relatives points to inherited CDKN2A or CDK4 mutations, which can prompt more frequent skin checks and stricter UV protection.
Fanconi Anemia: Unlocking the Mysteries with Genetic Testing
Mutations in DNA repair genes, among them the newly described FAAP100, cause this autosomal recessive marrow failure disorder; carriers carry one altered copy.
Fathoming Fetal and Neonatal Alloimmune Thrombocytopenia: The Role of Genetic Testing
Maternal antibodies cross the placenta and destroy fetal platelets, risking intracranial hemorrhage; platelet antigen incompatibility appeared in 38% of cases.
Follicular Lymphoma: Unraveling the Genetic Code for Better Outcomes
Arising from B-lymphocytes, this slow-growing non-Hodgkin lymphoma carries BCL2, EZH2 and CREBBP mutations that inform CHOP-based treatment choices and monitoring.