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.
Improper blood flow, breathing difficulties and frequent infections can follow this group of heart anomalies; ZIC3 findings inform recurrence risk and PGD options.
Prothrombin, the clotting protein encoded by F2, is reduced or impaired, so bleeding after injury or surgery is heavy. Testing names the mutation and hints at severity.
The GRM6 gene sits behind CSNB 1D, a non-progressive retinal disorder; seven Taiwanese patients showed its variants and inheritance patterns.
Folate metabolism stalls when a homozygous DHFR mutation removes the enzyme, causing megaloblastic anemia and cerebral folate deficiency; folinic acid bypasses the block.
Short stature, sparse hair and changes to nails and teeth accompany craniofacial features in CED2, an autosomal recessive disorder confirmed by genetic testing.
Early-onset seizures and developmental delay define DEE11, linked to the PACS2 p.Glu209Lys variant; MRI supports the diagnosis but rarely settles it alone.
The WWOX gene shapes brain development, and mutations in it contribute to developmental and epileptic encephalopathy 12, with seizures starting in infancy or childhood.
There is no cure for DEE7, but naming the mutation confirms the diagnosis, informs medication choices and clarifies recurrence risk for future pregnancies.