Axenfeld-Rieger Syndrome: Unraveling Genetics for Better Management
Beyond the eyes, this syndrome can affect teeth, facial structure and sometimes the heart. Finding a PITX2 or FOXC1 mutation supports monitoring for glaucoma.
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
Beta Thalassemia: Bridging the Gap with Genetic Testing
Thalassemia minor, intermedia and major all stem from HBB gene mutations that limit beta-globin. Testing guides diagnosis, carrier screening and treatment planning.
Breaking Down Bosley-Salih-Alorainy Syndrome: The Role of Genetic Testing
HOXA1 mutations disrupt early embryonic development in BSAS, a rare disorder whose features include facial dysmorphism, hearing loss and neurological anomalies.
Cracking the Code of Capillary Malformation-Arteriovenous Malformation 1 with Genetic Testing
Flat red or pink skin lesions and abnormal artery-vein connections trace back to RASA1 mutations, which testing can identify before symptoms become apparent.
Carcinoma of the Esophagus: The Genetic Testing Frontier
Difficulty swallowing, chest pain and unintended weight loss often appear late. Mutations in TP53, CDKN2A and NOTCH1 are implicated in squamous cell carcinoma here.
Cracking the Code: Genetic Testing for Carpenter Syndrome
Premature skull fusion, extra fingers or toes and developmental delays mark Carpenter syndrome, which is linked to RAB23 mutations. Testing supports early diagnosis.
Centronuclear Myopathy: Unraveling the Genetic Threads of a Rare Muscle Disorder
Centrally placed nuclei in muscle cells define centronuclear myopathy, which may begin at birth or in adulthood; a BIN1 founder mutation was found in a Roma population.
Cracking the Code: Unraveling Charcot-Marie-Tooth Disease, Type I Through Genetic Testing
Damage to the myelin sheath drives CMT1, an autosomal dominant disorder affecting about 1 in 2,500 people and confirmed by identifying the mutation.