Decoding the Enigma of Malignant Rhabdoid Tumors: Genetic Testing Unlocks New Insights
Aggressive tumors of the brain, kidneys and liver in infants and young children are marked by SMARCB1 inactivation, which testing can confirm.
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 Classic Maple Syrup Urine Disease Type IB: Understanding, Diagnosing, and Utilizing Genetic Testing
Mutations in BCKDHB disable the BCKD enzyme complex, so leucine, isoleucine and valine accumulate. Newborn screening and DNA analysis together confirm the diagnosis.
Unlocking the Mysteries of Type II Maple Syrup Urine Disease: A Guide to Understanding, Diagnosing, and Utilizing Genetic Testing
Also called E2 transacylase-deficient MSUD, this form can respond to high-dose thiamine, and gene analysis helps show who is likely to benefit from that treatment.
Decoding the Mystery of Median Cleft Lip and Palate: Understanding, Diagnosing, and Utilizing Genetic Testing
A vertical cleft through the center of the upper lip may extend into the nose or palate, affecting speech and appearance. Family history guides counseling and testing.
Decoding the Copper Conundrum: Understanding Menkes Disease and the Power of Genetic Testing
Discover the importance of genetic testing in diagnosing Menkes disease, a rare genetic disorder affecting copper metabolism. Learn about treatment options, including copper…
Menkes Disease: ATP7A, Copper and Kinky Hair Signs
Faulty copper absorption from ATP7A mutations leads to poor growth, seizures, low muscle tone and brittle steely hair in this X-linked recessive disorder.
Unlocking the Mysteries of Metabolic Syndrome: Genetic Testing for Susceptibility
High blood pressure, high blood sugar, waist fat and abnormal lipids cluster together here, and whole-genome sequencing, gene panels and GWAS assess risk.
Decoding the Blue Hue: Understanding Methemoglobinemia Type 2
Discover the causes, symptoms, and diagnosis of Methemoglobinemia Type 2, a rare genetic disorder. Learn how genetic testing aids in early detection and improves treatment options.