Cracking the Code: Genetic Testing in Congenital Short Bowel Syndrome
Mutations in CLMP and FLNA disrupt intestinal development in congenital short bowel syndrome; testing informs nutritional support, surgery and recurrence risk.
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
Congenital Stationary Night Blindness 1F: Unraveling the Genetic Mysteries of a Rare Disorder
Carried on the X chromosome and traced to the NYX gene, CSNB 1F affects mainly males. Carrier testing, low-vision aids and mobility training are described.
Cowden Syndrome 3: Unraveling the Genetic Threads of a Complex Disorder
Explore Cowden Syndrome 3, its genetic roots, symptoms, and how genetic testing aids in diagnosis, management, and family planning for better health outcomes.
Cowden Syndrome 4: Genetic Testing as a Gateway to Early Diagnosis and Management
Confirming CS4 through a PTEN test shapes how closely breast, thyroid and endometrial screening is done, and what relatives learn about their own risk.
Cowden Syndrome 5: Genetic Testing as a Gateway to Early Intervention and Management
SEC23B mutations underlie CS5, an autosomal dominant syndrome of hamartomas and raised tumor risk; testing confirms it and sets a surveillance plan for relatives.
Comprehending Cowden Syndrome 6: Genetic Testing's Crucial Role
Symptoms vary widely even within one family: skin lesions, macrocephaly and cancer predisposition follow PTEN mutations passed on in an autosomal dominant pattern.
Cryptosporidiosis-Cholangitis-Liver Disease: Genetic Testing
Parasitic infection, chronic bile duct inflammation and progressive liver disease overlap in one syndrome, where genetic markers may point to susceptibility and care.
Decoding Developmental and Epileptic Encephalopathy, 16: The Role of Genetic Testing
One mutation can look different in different people, so DEE16 is hard to pin down clinically; DNA analysis separates it from overlapping neurological disorders.