Understanding the pathophysiology of SLC29-mutated human genetic disorders

 

Understanding the pathophysiology of SLC29-mutated human genetic disorders
The current treatment approaches for SLC29A3 group of genetic disorders remains a guesswork because of lack of knowledge on the disease pathogenesis. We are employing an innovative and collaborative approach to the understanding of molecular pathogenesis and development of new treatments for SLC29A3 genetic disorders. We have a track record of studying SLC29 family of transporters including cloning the SLC29A3 gene, characterizing the structural and functional features of SLC29A3, and, evaluating the biochemical consequences of SLC29A3 mutations to accelerate the development of novel treatments for SLC29A3 disorders. Our commitment to understanding the disease pathogenesis and treatments for SLC29A3 disorders is highlighted by our seminal publications on SLC29A3 and grant funding from NIH-NIAMS and NIH-NIGMS, providing a vehicle to work collaboratively with Clinicians, Computational Biologists, and Medicinal Chemists on SLC-related projects. As SLC29A3 disorders are monogenic in origin, we anticipate this is an area where our research would enable significant advances in rare genetic disorders and drug development.