Decoding Marfan Syndrome: Genetic Testing for Early Detection and Management
Because symptoms overlap other connective tissue disorders, echocardiography and FBN1 analysis confirm a mild case, find at-risk relatives and guide beta-blocker use.
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
Decoding Marfan Syndrome: A Comprehensive Guide to Genetic Testing and Management
Joint hypermobility, chest deformity and aortic risk mark this form. FBN1 sequencing confirms it, and care covers blood pressure control and avoiding contact sports.
Decoding the Enigma of Severe Classic Marfan Syndrome: The Power of Genetic Testing
Protein-truncating FBN1 variants and changes in the neonatal region raise the risk of severe scoliosis, and genotype-phenotype data help stratify aortic and other risks.
Unlocking the Mysteries of Marshall/Stickler Syndrome: Genetic Testing for Diagnosis and Management
Discover how genetic testing aids in diagnosing Marshall/Stickler Syndrome, enabling personalized treatment, early intervention, and improved quality of life.
Migraine Resistance: When Standard Treatments Don't Work
No single test identifies treatment-resistant migraine; diagnosis rests on history and treatment response, while EAT-6, glucose traits and PFO are studied as links.
Decoding the Mystery: Understanding and Diagnosing Mild Global Developmental Delay
Discover the role of genetic testing in diagnosing Mild Global Developmental Delay (GDD). Learn how identifying gene mutations & chromosomal abnormalities can improve treatment &…
Decoding the Mystery of Isolated Mitochondrial Myopathy: Understanding, Diagnosing, and Using Genetic Testing
Exercise intolerance and progressive weakness define this muscle-limited mitochondrial disease, reported with the m.3243A>G MT-TL1 mutation and with TK2 gene defects.
Decoding the Genetic Puzzle: Understanding Myopathy, Mitochondrial, with Diabetes Mellitus
Both the muscle weakness and the high blood sugar in this disorder trace to mitochondrial DNA changes; variants such as ND5 T12338C have been reported.