Aim: To analyze and quantify the frequencies of various mutations associated with Hereditary Hemorrhagic Telangiectasia (HHT), aiming to provide a comprehensive understanding of the genetic landscape of this disorder.
Scientific Rationale: HHT, affecting over 1.4 million people globally, is a complex genetic disorder with significant variability in its genetic underpinnings. The ClinVar database identifies over 900 genetic variants in key genes (ENG, ACVRL1, SMAD4) linked to HHT. Despite this, there is a substantial gap in the literature regarding the prevalence of each mutation per gene. Our project aims to fill this gap by categorizing these mutations as either rare or common, thus enhancing our understanding of the disease’s genetic basis.
Project Duration: 12 months
Public Health Impact: This research will greatly impact public health. By identifying the most common mutations associated with HHT, our findings will guide future clinical studies, aiding in the development of more precise diagnostic tools and targeted therapeutic strategies. This project represents a significant stride towards better understanding the genetic landscape of HHT and pave the way for advanced clinical interventions, ultimately benefiting the large patient population affected by this disorder.