Nina Corsini, a senior research associate in Jürgen Knoblich’s lab, and Oliver Eichmüller, a medical researcher in Jürgen Knoblich’s lab and assistant doctor at the Clinic for Pediatrics and Adolescent Medicine of the Medical University of Vienna, were awarded the German Tuberous Sclerosis Foundation’s prize. The two scientists used stem cells derived from tuberous sclerosis patients to build cerebral organoids, which they used to investigate neurodevelopmental defects caused by tuberous sclerosis. Cerebral organoids are small tissue structures grown in the laboratory that replicate certain aspects of the human brain and resemble early stages of brain development in their structure and function, allowing scientists to study neurodevelopment and disease. 

Patient-derived cerebral organoids developed tumors that closely resembled those found on patients. Upon closer analysis, the researchers discovered a special group of immature nerve cells that are particularly susceptible to genetic changes and exhibit pathological growth in these organoids. The scientists identified these cells, known as CLIP cells, as the common origin of tuberous sclerosis tumors and cortical tubers.  

The study was the first to successfully replicate typical tuberous sclerosis brain lesions such as tubers and tumors in the laboratory using human brain organoids. This represents a significant advance in modeling the disease and enables deeper insights into disease mechanisms, such as the development of epileptic networks. Indeed, the researchers showed that mutations in the gene TSC2 cause CLIP cell proliferation, leading to the establishment of aberrant neurological connections that lead to epilepsy, one of the most severe symptoms of tuberous sclerosis. 

Nina Corsini and Oliver Eichmüller are confident that these findings will contribute to a better understanding of the disease and the development of new treatment approaches in the future. 

"We would like to express our sincere thanks for this special recognition of our work. The research award from the German Tuberous Sclerosis Foundation demonstrates the relevance of our research for those affected and their families and is a particular incentive for us to continue using the innovative technology of brain organoids in the future to contribute to the understanding and treatment of tuberous sclerosis. With our previous work, we were able to replicate disease processes in the laboratory and show that processes that only occur in humans play a significant role in the development of tuberous sclerosis. In the future, we want to try to optimize our patient models in order to test therapies. The Tuberous Sclerosis Foundation's research award is now making an important contribution to this." 

About the German Tuberous Sclerosis Foundation Award 

The German Tuberous Sclerosis Foundation was founded by Anke and Roland Koch over ten years ago with the aim of strengthening their joint commitment to the fight against tuberous sclerosis. By awarding the research prize, the founding couple hopes to contribute to further research into the disease and, in particular, its treatment options. 

“Unfortunately, tuberous sclerosis and the development, causes, and consequences of the disease are still largely unknown to the general public. It is therefore very important to us to raise social awareness of the living conditions of people with tuberous sclerosis and to provide information about the current state of knowledge about the disease,” said the Kochs: “With this award, we want to express our appreciation and respect for the two winners, Dr. Oliver L. Eichmüller and Dr. Nina Stefanie Corsini, and hope that many other researchers will be inspired by it.” 

The German Tuberous Sclerosis Foundation Award, awarded every two years, recognizes researchers that have made impactful scientific contributions to the understanding and treatment of tuberous sclerosis. The winners are selected by a jury of experts chaired by Prof. Dr. Karl Max Einhäupl, former long-standing CEO of Charité Berlin. The award includes an economic prize of 10.000 Euros.