Corneal Dystrophy: Unraveling Genetic Testing's Potential
Lattice, granular and Fuchs' endothelial forms trace to specific mutations; MIR184 variants were linked to FECD alongside TCF4, refining corneal dystrophy 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
Corticobasal Syndrome: Symptoms and Gene Variants
Asymmetric limb rigidity, dystonia and language difficulty define CBS; a novel ANXA11 P93S variant affecting TDP-43 is among the findings testing can reveal.
Cutis Laxa with Osteodystrophy: Genetic Testing as a Beacon of Hope
Joint laxity, developmental delays and skeletal changes accompany loose skin in cutis laxa with osteodystrophy, which usually follows autosomal recessive inheritance.
Cytosolic Phospholipase-A2 Alpha Deficiency Associated Bleeding Disorder: Understanding the Genetic Puzzle
Frequent nosebleeds, easy bruising and prolonged bleeding follow PLA2G4A mutations behind cPLA2α deficiency, and testing shows which mutation a person carries.
Decoding Dentinogenesis Imperfecta: The Role of Genetic Testing in Diagnosis and Management
Defective dentin from DSPP mutations leaves teeth blue-gray or yellow-brown and prone to wear, fracture and decay; dentinogenesis imperfecta falls into three types.
Decoding DeSanto-Shinawi Syndrome: The Role of Genetic Testing in Diagnosis and Management
Intellectual disability, developmental delays and distinct facial features follow WAC mutations; testing shortens the path to a DeSanto-Shinawi syndrome diagnosis.
Deciphering Diencephalic-Mesencephalic Junction Dysplasia: Genetic Testing's Role
Abnormal development where the diencephalon and mesencephalon meet can cause developmental delay, motor dysfunction and seizures. Fetal MRI and DNA analysis are used.
Decoding Double Outlet Right Ventricle: The Role of Genetic Testing
Both the aorta and the pulmonary artery arise from the right ventricle, disrupting blood flow and often causing cyanosis, with severity shaped by VSD or stenosis.