West Syndrome: Unraveling the Genetic Mysteries of Infantile Spasms
Spasms, developmental regression and a hypsarrhythmia pattern on EEG define West syndrome; finding a genetic cause can shape drug or dietary treatment and prognosis.
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
Wolfram Syndrome: Unraveling the Genetic Threads for Early Diagnosis and Management
Diabetes insipidus, diabetes mellitus, optic atrophy and deafness make up DIDMOAD; WFS1 testing can identify Wolfram syndrome before symptoms appear.
X-linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome: Unraveling Complexities Through Genetic Testing
NEXMIF and GNAO1 mutations are linked to this syndrome of intellectual disability, hypotonia and movement problems, where testing guides early therapy and counseling.
X-linked Spasticity-Intellectual Disability-Epilepsy Syndrome: Genetic Testing and Its Transformative Potential
Spasticity, intellectual disability and epilepsy together point to X-SIDE, which affects mainly males; genetic testing separates it from similar neurological disorders.
Peeling Back the Layers: Understanding Palmoplantar Keratoderma and the Role of Genetic Testing
Discover the role of genetic testing in diagnosing Palmoplantar Keratoderma (PPK), its benefits in guiding personalized treatment plans, and recent research advancements.
Understanding 3-Methylglutaconic Aciduria: The Role of Genetic Testing
Mitochondrial defects let 3-methylglutaconic acid build up in urine, with symptoms from developmental delay to cardiac problems; an AUH mutation causes type 1.
Understanding 3MC Syndrome: The Role of Genetic Testing in Diagnosis and Management
Craniofacial anomalies, intellectual disability and developmental delays define 3MC syndrome; COLEC11 and MASP1 mutations affect the complement lectin pathway.
Understanding 46,XX Disorder of Sex Development: A Genetic Perspective
Two X chromosomes paired with male physical traits can follow changes in SRY or other sex-differentiation genes, alongside hypogonadism and infertility.