Decoding Lissencephaly: Understanding, Diagnosing, and Genetic Testing
Two altered copies of a gene, one from each parent, underlie this smooth-brain malformation; MRI findings, carrier testing and prenatal options are covered.
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
Decoding the Maze: Understanding Lissencephaly and Subcortical Band Heterotopia
One condition leaves the cortex smooth, the other leaves bands of neurons stranded in white matter; testing looks at the LIS1, DCX and ARX genes.
Understanding and Diagnosing MAPT-Related Spectrum Disorders
Mutations in MAPT disrupt tau and can lead to frontotemporal dementia, progressive supranuclear palsy or corticobasal degeneration. Carrier testing is also covered.
Unlocking the Mystery of MKS1-Related Disorders: Genetic Testing for Diagnosis and Management
Cilia throughout the body depend on MKS1, and changes in the gene can cause Meckel-Gruber, Joubert or Bardet-Biedl syndrome. Three testing approaches are compared.
Decoding the Mystery: Understanding and Diagnosing Moderate Intellectual Deficiency
An IQ between 35 and 49 defines moderate intellectual deficiency, which affects learning and communication. Cognitive assessment and genetic testing are described.
Decoding Monogenic Non-Syndromic Obesity: Genetic Testing and Beyond
Changes in one gene affecting appetite and energy balance set monogenic non-syndromic obesity apart from syndromic forms; LEP, LEPR, MC4R and POMC testing is covered.
Unlocking the Mysteries of MPV17-Related Disorders: A Comprehensive Guide
Damage to mitochondrial function from MPV17 changes can appear as Navajo neurohepatopathy or mitochondrial DNA depletion syndrome, with liver disease and delays.
Understanding, Diagnosing, and Using Genetic Testing for MVK-Related Disorders
Mevalonate kinase (MVK) mutations cause HIDS and mevalonic aciduria, recessive conditions with periodic fever, rash and joint pain that sequence analysis can confirm.