Understanding Cone-Rod Dystrophy 2: Diagnosis and Genetic Testing
Mutations in the CRX gene can confirm CORD2, a retinal dystrophy that brings photophobia, night blindness and loss of color vision; ERG and OCT support the diagnosis.
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
Understanding, Diagnosing, and Using Genetic Testing for Congenital Contractural Arachnodactyly
Explore how genetic testing diagnoses Congenital Contractural Arachnodactyly, a connective tissue disorder, with FBN2 gene mutations for personalized care and family planning.
Understanding, Diagnosing, and Utilizing Genetic Testing for Cornelia de Lange Syndrome 1
Arched eyebrows, long eyelashes, growth delays and limb differences prompt testing for NIPBL mutations, which confirm Cornelia de Lange Syndrome 1 and guide therapy.
Understanding, Diagnosing, and Using Genetic Testing for Craniometaphyseal Dysplasia, Autosomal Dominant
X-ray, CT and MRI show widened metaphyses and thickened skull bones, while an ANKH mutation confirms this autosomal dominant bone disorder within a family.
Understanding, Diagnosing, and Using Genetic Testing for Crouzon Syndrome
Premature fusion of skull sutures produces the wide-set eyes, beaked nose and underdeveloped upper jaw of Crouzon syndrome; FGFR2 testing confirms the diagnosis.
Understanding, Diagnosing, and Using Genetic Testing for Cutis Laxa, Autosomal Dominant 1
Loose, wrinkled skin from birth or early childhood suggests ADCL1, caused by ELN mutations, with cardiovascular and respiratory monitoring part of ongoing care.
Understanding, Diagnosing, and Using Genetic Testing for Dentatorubral-Pallidoluysian Atrophy
Diagnose Dentatorubral-Pallidoluysian Atrophy (DRPLA) using genetic testing. Learn how carrier, prenatal, and preimplantation genetic diagnosis can help manage DRPLA effectively.
Understanding, Diagnosing, and Using Genetic Testing for Denticles
Calcified masses inside the dental pulp, denticles are often asymptomatic and show up on X-rays or CBCT scans; free, attached and embedded types differ by location.