
Decoding the Mystery: Polymerase Proofreading Associated Polyposis
Discover the importance of understanding Polymerase Proofreading Associated Polyposis (PPAP), its diagnosis, and how genetic testing aids in early detection and prevention of…

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.

Discover the importance of understanding Polymerase Proofreading Associated Polyposis (PPAP), its diagnosis, and how genetic testing aids in early detection and prevention of…

Fluid-filled cavities in the brain can be congenital or follow infection, hemorrhage or trauma; CT and MRI reveal a porencephalic cyst, and some people stay symptom-free.

Embryos that fail to implant may carry biallelic TLE6 variants that IVF and ICSI do not overcome; ZC3H11A, Iws1 and oocyte donation are also covered.

Three genes anchor the research here: ZC3H11A in mRNA regulation, TLE6 in early development and Iws1 in mouse embryos, with PGT used to screen embryos.

Chromosomal instability can stop an embryo implanting, ending a pregnancy before it is established; mouse studies of Mcm4 and the lethal yellow mutation are cited.

Discover the causes of prelingual sensorineural hearing impairment and the benefits of genetic testing for early diagnosis, personalized therapy, and genetic counseling.

A slow-growing subtype of epithelial ovarian cancer found through pelvic exam, transvaginal ultrasound, CA-125 and biopsy; genetic testing also weighs family risk.

Myoclonic seizures, ataxia and cognitive decline start in childhood or adolescence; EEG, MRI and testing of genes such as EPM2A and SERPINI1 pin down PME5.