Infantile Parkinsonism-Dystonia: Dopamine Transporter Gene
Loss-of-function mutations in the dopamine transporter gene are the first genetic link found in this early-onset disorder of motor dysfunction and dystonia in children.
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
Polycystic Kidney Disease 2: Unlocking the Genetic Code to Combat a Silent Threat
Cysts multiplying in the kidneys can raise blood pressure and lead to chronic kidney disease, and PKD2 gene mutations may be identified before symptoms appear.
Polymicrogyria with Optic Nerve Hypoplasia: Understanding the Role of Genetic Testing in Diagnosis and Management
Developmental delays, neonatal hypotonia and seizures accompany polymicrogyria with optic nerve hypoplasia, where testing can pinpoint the mutations involved.
Primary Ciliary Dyskinesia 13: Precision in Prevention and Diagnosis
Chronic cough, congestion and repeated ear infections can reflect PCD13, where faulty dynein arms stall cilia; diagnosis and bronchiectasis risk are discussed.
Pinpointing the Pathogen: Genetic Testing in Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 5
Eye muscle weakness with mitochondrial DNA deletions is inherited dominantly here; whole exome sequencing found a likely pathogenic DNA2 variant in a child.
Purine-nucleoside Phosphorylase Deficiency: Understanding the Role of Genetic Testing
Without working purine nucleoside phosphorylase, toxic metabolites destroy T lymphocytes, bringing recurrent infections, neurological problems and autoimmune disease.
Retinitis Pigmentosa 50: Navigating the Genetic Labyrinth
Several genes can produce the night blindness and peripheral vision loss seen in RP50, so DNA analysis is used to establish which mutation is present.
Genetic Testing for Retinitis Pigmentosa 51: What It Shows
Different mutations can produce the same symptoms in RP51, which makes diagnosis hard. A molecular result separates it from other retinal dystrophies.