Barth syndrome, a rare disease affecting multiple body systems, is caused by changes in the TAFAZZIN gene. This disorder can lead to heart and muscle problems, among other issues, impacting the lives of those affected. Accurate diagnosis is essential for effective treatment. However, understanding the genetic changes in Barth syndrome poses challenges due to its rarity and the tens of thousands of possible genetic variants. Current methods for analyzing these variants can be time-consuming and may delay diagnosis. To address this, our project aims to develop a new approach using a computer algorithm to analyze all possible single-nucleotide genetic variants in TAFAZZIN . By combining data from different sources, we hope to quickly identify which variants are harmful and which are harmless. This will help doctors make faster and more accurate diagnoses for patients with Barth syndrome. Furthermore, our study also aims to identify specific regions of the gene that may be more prone to harmful variations, which could lead to further research into how these variations cause disease. We will achieve these goals by combining data from published sources with the Barth syndrome database that was carefully collected by Dr. Iris Gonzalez over several decades. Using the precision of data on hundreds of individuals with Barth syndrome and the power of millions of individuals without Barth syndrome, we expect to have a better sense of which variants are important for causing disease. Overall, this project seeks to provide faster diagnosis for patients with Barth syndrome and better understanding of the molecular causes for their families and physicians.
About the Investigator:
As a physician scientist specializing in Pediatric Cardiology and Medical Genetics, my journey has been fueled by a deep-rooted curiosity to understand the mysteries of metabolic diseases in children. My doctoral research at the University of Wisconsin-Madison focused on unraveling the intricate workings of mitochondria, shedding light on the roles of crucial proteins in energy metabolism. Transitioning to Stanford for further training, I completed a residency in Pediatrics and Medical Genetics, and am finishing my Fellowship Pediatric Cardiology. My focus has shifted towards exploring how genetics and metabolism impact heart health in young patients. Today, armed with cutting-edge techniques, I am dedicated to unraveling the molecular underpinnings of heart failure, driven by a lifelong passion for mitochondrial and metabolic diseases and a commitment to making a meaningful difference in the rare disease community.
