Weekly Research Updates! - December 22, 2023

Weekly Research Updates! - December 22, 2023

• We’re currently looking into DNMT3A variants that don't have TBRS or HESJAS.
  • DNMT3A variants cause Tatton Brown Rahman Syndrome and Heyn Sproul Jackson Syndrome, but we believe there are variants that might cause other symptoms (like a spectrum)
• We’ll be participating in some COMBINEDBrain and Biorepository studies
  • There are a few metabolism and protein studies that we are looking to do with COMBINEDBrain! I will have more information on this in the future, but it will not require anything on your part!
• We’ve had more meetings for collaborations in research!
• Our team has finished our draft for the Overgrowth Syndrome Alliance (OSA) paper, now we have reviewers looking over it before we submit
• More editing to the TBRS website, which I hope to have launched in early 2024.