Vigilant Evaluation: Genetic Testing in von Willebrand Disease Type 2
Qualitative defects in von Willebrand factor split type 2 into four subtypes; VWF gene analysis separates them when laboratory assays give ambiguous results.
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
Genetic Glitches: Understanding 46,XY Sex Reversal 5
Diagnosis often comes in adolescence when periods do not begin; a missense SRY mutation keeps the protein out of the nucleus and leaves the testes undeveloped.
Acute Infantile Liver Failure: A Genetic Glimpse into Mitochondrial Maladies
A defect in making proteins encoded by mitochondrial DNA leaves infants with severe liver failure; the page covers testing, care and genetic counseling.
Amelogenesis Imperfecta Hypomaturation Type 2A3: A Genetic Insight into Dental Development
Uncover how genetic testing aids in diagnosing Amelogenesis Imperfecta Type 2A3, offering insights into personalized treatment and preventive dental care.
Advancements in Understanding Asphyxiating Thoracic Dystrophy 3: The Role of Genetic Testing
A narrow, bell-shaped chest limits breathing in ATD3, a ciliopathy also called Jeune syndrome, where DYNC2H1 findings support early diagnosis and counseling.
Advancements in Atrial Septal Defect 6: The Role of Genetic Testing
Some people with ASD6 notice little, while others have heart murmurs, fatigue or heart failure; mutation testing, inherited or new, shapes monitoring and treatment.
Assessing Attention Deficit-Hyperactivity Disorder Susceptibility: The Role of Genetic Testing
DNA tests can detect markers tied to ADHD risk, such as the susceptibility 7 locus. Research also links certain immune cell traits to the disorder.
Auditory Anomalies: Genetic Testing for Autosomal Dominant Nonsyndromic Hearing Loss 50
TECTA encodes a protein of the inner ear, and a novel mutation reported in a Mongolian family ties it to ADNSHL 50 and to how severe the hearing loss becomes.