Decoding Neonatal Epileptic Spasms: Understanding, Diagnosing, and Genetic Testing
Also called infantile spasms or West syndrome, these clustered muscle contractions affect about one in 4,000 births; EEG and exome sequencing both aid 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
Nephronophthisis 8: NGS Diagnosis of a Ciliopathy
TTC21B mutations underlie this ciliopathy, which drives children and young adults toward end-stage renal disease; exome sequencing separates it from similar diseases.
Unraveling the Mystery of Severe Hereditary Sensory and Autonomic Neuropathy Type IA
An inability to feel pain, temperature or touch leaves injuries unnoticed; KIF1A testing confirms the diagnosis and supports carrier and prenatal testing.
Decoding the Mystery of Autosomal Recessive Nonsyndromic Hearing Loss and Deafness
Both parents must carry a copy of the altered gene for a child to be affected. Audiologic assessment, diagnostic confirmation and carrier testing are explained.
Decoding the Mystery: Ocular Albinism with Congenital Sensorineural Hearing Loss
Eye depigmentation with profound hearing loss from birth defines ocular albinism with congenital sensorineural hearing loss. DNA testing helps confirm it.
Decoding Ornithine Decarboxylase 1 Polymorphism: Genetic Testing for Improved Outcomes
Discover the benefits of genetic testing for Ornithine Decarboxylase 1 (ODC1) polymorphism in diagnosing diseases, personalizing treatment plans, and improving patient outcomes.
Unraveling the Fragile World of Osteogenesis Imperfecta Type 2: Genetic Testing for Diagnosis and Beyond
Multiple fractures at birth, blue sclerae and respiratory complications mark OI type 2; COL1A1 and COL1A2 testing confirms it and supports prenatal and carrier work.
Decoding Parkes Weber Syndrome: A Comprehensive Guide to Genetic Testing and Diagnosis
Arteriovenous malformations, limb overgrowth and port-wine stains mark this congenital disorder, and RASA1 testing separates it from Klippel-Trenaunay Syndrome.