Chronic Intestinal Pseudoobstruction: Understanding the Genetic Testing Pathway
Symptoms mimic a blockage although no physical obstruction exists; ACTG2 mutations affect gut smooth muscle, and testing informs diagnosis and counseling.
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
What Causes Coenzyme Q10 Deficiency, Primary, 3?
Hypotonia, seizures and developmental delay follow when cells cannot make enough CoQ10. Recessive inheritance, DNA testing and CoQ10 supplementation are explained.
COG6-CDG Symptoms and the COG6 Gene Behind Them
Bowel malrotation and ambiguous genitalia now join developmental delay in the COG6-CDG picture, and finding COG6 mutations allows an earlier, more certain diagnosis.
Colorectal Cancer, Hereditary Nonpolyposis, Type 6: MMR
Inherited faults in the mismatch repair genes MLH1 and MSH2 sit behind this form of Lynch syndrome, so carriers can begin colonoscopy earlier and more often.
Hereditary Nonpolyposis Colorectal Cancer Type 7: MLH1
Carrying an MLH1 or MSH2 mutation raises cancer risk. Surveillance colonoscopy, lifestyle change, chemoprevention and CRISPR-Cas9n gene therapy research are set out here.
Combined Immunodeficiency from LRBA Gene Mutations
Recurrent infections, autoimmune features and a raised chance of lymphoproliferative disease follow LRBA gene mutations, which testing can identify to guide treatment.
Cracking the Code: Understanding Combined Oxidative Phosphorylation Defect Type 9
Growth looks normal at first, then failure to thrive, psychomotor delay and severe cardiomyopathy appear as COXPD9 disrupts how cells generate energy.
Understanding Complement Component 4a Deficiency: A Genetic Testing Perspective
Missing or faulty C4A protein weakens complement defense against infection and autoimmunity, while research also links C4A to schizophrenia and other brain conditions.