10/11/2026
TBRS Word(s) of the Day: Genotype & Phenotype!
You may hear researchers talk about genotype and phenotype when discussing TBRS research. But what do these words actually mean?
Genotype = the genetic information or specific genetic changes a person has.
Phenotype = the traits, symptoms, or health features a person has.
For people with TBRS, a variant in the DNMT3A gene is part of their genotype. Researchers are working to better understand how different genetic variants may relate to the different features people with TBRS experience.
Understanding the connection between genotype and phenotype can help researchers learn more about TBRS and, hopefully, improve care and treatment in the future!