MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
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).
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.
Reversed ventricles and arteries may go unnoticed until adulthood in CCTGA, when heart block, arrhythmias or heart failure appear; a CCDC39 case study is described.
Pinpointing the mutation behind DEE40 can shape drug and dietary choices, open access to trials of molecular therapies and move care beyond symptom control.
Refractory seizures and intellectual disability define DEE41, where identifying the causative mutation supports earlier care and recurrence-risk counseling.
Because many genes can cause DEE42, testing confirms the diagnosis, separates it from similar disorders and supports prenatal or preimplantation testing.
A study of 366 Chinese neonates with neonatal encephalopathy found genetic variants in 11.7% of cases, linking them to seizures and developmental delay.
UBA5 mutations disrupt protein ubiquitination and cellular function in DEE44; a genetic result shortens the diagnostic process and guides therapy choices.
A de novo GABRB1 variant has been reported in DEE45 through whole exome sequencing; results can support earlier diagnosis and recurrence-risk counseling.
When early seizures and cognitive impairment suggest DEE46, a GNAO1 result settles the diagnosis, steers drug choices and shows families their recurrence risk.