IL21-Related Infantile IBD: Symptoms and MEFV Findings
Chronic gut inflammation in the first months of life brings diarrhea, abdominal pain and malnutrition; a gain-of-function MEFV mutation has been reported.
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
IMAGe Syndrome: Unlocking Insights Through Genetic Testing
Growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies make up IMAGe syndrome, which traces back to CDKN1C mutations.
Innovations in Immunodeficiency: Understanding Common Variable Immunodeficiency, 7 Through Genetic Testing
Sequencing can confirm CVID7 in someone with signs of immunodeficiency, separating it from related disorders and helping predict response to specific treatments.
Infantile Cerebellar-Retinal Degeneration: Unraveling the Genetic Threads
Mutations in ACO2, which encodes mitochondrial aconitase, disrupt energy production and lead to developmental delay, motor problems and vision loss in infancy.
Illuminating Insights into Inflammatory Skin and Bowel Disease, Neonatal, 1: The Role of Genetic Testing
Severe skin rashes and bowel inflammation appear soon after birth when gene defects leave the immune system overactive; testing separates NISBD1 from similar disorders.
Severe Influenza Susceptibility and Its Genetic Loci
Why some people face life-threatening flu while others recover quickly may rest partly on genetic loci, which a mouse study found acted differently in males and females.
Intellectual Disability, Autosomal Dominant 13 and ZBTB18
Exome sequencing reads only the protein-coding regions of genes, where a de novo ZBTB18 variant has been reported, giving families a diagnosis to plan care around.
Illuminating Insights: Genetic Testing for Intellectual Disability, Autosomal Dominant 14
GNB1 encodes a beta subunit of G proteins, and mutations disrupt the signaling these heterotrimers carry, producing the global developmental delay of ID-AD14.