Congenital Diarrhea 7 with Exudative Enteropathy: Unraveling the Genetic Puzzle
Chronic diarrhea with protein loss follows when intestinal epithelium genes are altered; DNA testing shortens the CD7EE diagnostic path that once leaned on biopsies.
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
Cracking the Code: Genetic Testing for Congenital Dyserythropoietic Anemia Type 1B
Jaundice, fatigue and an enlarged spleen follow the faulty red cell development in CDA 1B. Gene testing separates it from other anemias and informs transfusion decisions.
Cracking the Code: Understanding Congenital Microcephaly - Severe Encephalopathy - Progressive Cerebral Atrophy Syndrome
Small head size at birth, brain dysfunction with seizures and motor difficulty, and gradual loss of brain tissue define this syndrome that genome sequencing can trace.
Corneal Dystrophy, Fuchs Endothelial, 8: TCF4 Repeat
An expansion of a non-coding repeat in TCF4 is the main genetic factor in Fuchs endothelial corneal dystrophy, usually starting in middle age with glare and blurring.
Craniosynostosis 5: Skull Fusion and Genetic Risk
Premature fusion of cranial sutures can raise intracranial pressure and alter head shape, and testing is weighed as a guide to surgery timing and counseling.
Decoding the Mysteries of Developmental and Epileptic Encephalopathy, 17: The Promise of Genetic Testing
More than one gene can produce DEE17, and variants of uncertain significance often leave results ambiguous, which complicates both diagnosis and treatment choices.
Deciphering Developmental and Epileptic Encephalopathy, 18: The Role of Genetic Testing
SCN1A mutations can act by loss or gain of function, and mosaicism affects severity, so testing for both shapes drug choice and family planning in DEE18.
Decoding Developmental and Epileptic Encephalopathy, 19: The Role of Genetic Testing in Diagnosis and Treatment
Next-generation and whole exome sequencing separate DEE19 from similar encephalopathies, and the mutation found may point toward a ketogenic diet or particular drugs.