Global Collaboration Shared with Love Never Sinks
Current Worldwide Lesch-Nyhan Research
Around the world, researchers are working tirelessly to better understand Lesch-Nyhan disease and its variants. This page highlights current projects that have been brought to the attention of Love Never Sinks and shared directly by the researchers themselves. Our goal is to connect families, clinicians, and scientists, fostering a collaborative environment where discoveries are openly shared. Below you’ll find ongoing studies, project summaries, and contact information for researchers leading efforts to advance knowledge, treatment options, and hope for those living with Lesch-Nyhan.
Join or Share a Project
If you are a researcher or clinician currently studying Lesch-Nyhan disease or related HPRT1 variants, Love Never Sinks welcomes your collaboration. Please reach out through our Contact Form or email OutreachLNS@gmail.com to share your project details.
🧬 . Modeling Inherited Neurodevelopmental Disorders with Induced Pluripotent Stem Cells.
Lead Researcher: Dr. Hyder A. Jinnah
Institution: Emory University, USA
Contact: hjinnah@emory.edu
Narrative Summary: The biological processes responsible for neuronal dysfunction for many neurodevelopmental disorders are challenging to study for several reasons. The human brain is relatively inaccessible for direct evaluation, human autopsy and imaging studies provide limited information, animal models sometimes do not replicate key neurobiological defects, and immortalized neuron-like cell models have limited value for studying the biology of normal neurons. The current proposal describes the development of induced pluripotent stem cells for Lesch-Nyhan disease, as a well-defined Mendelian model for exploring several questions that are broadly relevant to other developmental disorders.
Funding: NIH
🧬 . Rescue of Lesch-Nyhan Disease
Lead Researcher: Dr. Hyder A. Jinnah
Institution: Emory University, USA
Contact: hjinnah@emory.edu
Narrative Summary:Lesch-Nyhan disease is an inherited disorder caused by pathological genetic variants in the HPRT1 gene. A major uncertainly that has blocked attempts to rescue this disorder is uncertainty regarding the developmental age when treatments must be started to prevent or reverse its neurobehavioral defects. This project uses neurons growing in a dish, mouse models, and human brain samples to delineate the developmental stage at which treatments need to occur to rescue developing neurons.
Funding: NIH