Analyzing Aniridia 2: The Role of Genetic Testing in Understanding This Rare Eye Disorder
An incompletely formed iris brings light sensitivity and reduced acuity, sometimes glaucoma or cataracts; PAX6 mutations and mosaicism explain the variation.
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
Analyzing Aniridia 3: The Role of Genetic Testing in Understanding and Managing the Disorder
Parental mosaicism means a parent can carry a PAX6 mutation in only some cells and still pass it on, which shapes recurrence risk and management planning.
Genetic Testing: A Beacon for Anterior Segment Dysgenesis 6
Children with ASD6 may develop glaucoma or cataracts as the cornea, iris and lens form abnormally, and finding the mutation supports monitoring and counseling.
Advancements in Genetic Testing for Anterior Segment Dysgenesis 8
Developmental changes at the front of the eye can raise intraocular pressure and cause childhood glaucoma; sequencing compares patient DNA with 20 known genes.
Aortic Aneurysm, Familial Thoracic 10: Navigating the Genetic Maze
Enlargement of the thoracic aorta runs in families with AAT10, and mutations affecting connective tissue components guide imaging intervals and relatives' screening.
Advancements in Genetic Testing for Arthrogryposis, Distal, with Impaired Proprioception and Touch
PIEZO2 variants disrupt mechanotransduction, leaving joints contracted and the sense of body position reduced; testing supports diagnosis and family planning.
Atrial Fibrillation, Familial, 18: Ion Channel Genes
Changes in cardiac ion channel genes underlie this inherited arrhythmia, and oxidative stress work in Pitx2-deficient models points to mechanisms behind AF 18.
Atypical Glycine Encephalopathy: GLDC and AMT Testing
Glycine accumulates when its breakdown falters, bringing developmental delays, seizures and hypotonia. GLDC or AMT results separate atypical from classical forms.