Cells Causing Tumours in Tuberous Sclerosis Complex: A Medical Mystery Solved
Tuberous Sclerosis Complex (TSC) is a rare genetic disease that can cause a wide range of signs and symptoms that are associated with the formation of benign, non-cancerous, tumours around the body (DiMario Jr., 2019). These tumours often affect the skin, brain, eyes, heart, kidney, and the lungs, but may also appear in other areas (DiMario Jr., 2019). These tumours do not typically become cancerous or spread to other parts of the body. However, these growths may significantly affect the organ system and may cause severe or life-threatening complications (DiMario Jr., 2019). Until about a month ago, researchers were eagerly searching for a means of identifying the cause of these growths in order to prevent their occurrence and find a cure for people with this rare disease.
On July 6, 2022 it was announced that a group of researchers in Canada at The Ottawa Hospital had identified the cells that cause tumours in patients with TSC (Pietrobon et al., 2022). The research group, led by Dr. William (Bill) Standford, genetically engineered kidney organoids grown from human tissue, and were thereby able to identify the cells which cause tumours in TSC (Pietrobon et al., 2022). Dr. Standford and his research team has long had an interest in the modeling and therapeutic development for both TSC and rare lung tumour lymphangioleiomyomatosis (The Ottawa Hospital, 2022). As a senior scientist in the Regenerative Medicine Program at Ottawa Hospital Research Institute and the Canadian Research Chair at Interactive Stem Cell Biology, Bill has long sought to provide treatment options for patients with these types of rare diseases (The Ottawa Hospital, 2022). Through the identification of the cells that cause these tumours, researchers at this Canadian hospital hope to be able to inspire treatment for patients with TSC.
Importantly, TSC is caused by a mutation in the TSC1 or TSC2 gene (DiMario Jr., 2019). However, unlike many rare diseases, patients often experience these mutations spontaneously early in their life and they are often not inherited from families, thereby making this disease very difficult to study (DiMario Jr., 2019). Yet, 60% to 80% of patients with TSC develop tumours in their kidneys which reduces the functionality of the kidneys and at times can cause life-threatening bleeding (DiMario Jr., 2019). Further, kidney disease is the lead cause of death in patients with TSC (DiMario Jr., 2019). Therefore, this ground-breaking solution can have significant implications on the quality and length of life of patients with TSC.
However, like many important developments in treatments for rare diseases, many members of the rare disease community are now left wondering what might happen with these research findings. If these findings are adopted by a private pharmaceutical company which then is able to develop a drug to prevent the occurrence of these tumours, governments all around the world are likely going to be forced to pay extortionate prices to treat patients, as has become more common in the rare disease pharmaceutical industry. Yet, on the flip side, in Canada, time and time again the rare disease community has seen that public funding is not available and the resources are not provided for the development of such treatments in the public sphere. As such, patients are left wondering whether they will ever be given access to a treatment that could be developed based on these findings, and if so, how long could development and approval take.
With so many questions left unanswered, it is cases such as these that emphasise the importance of social pharmaceutical innovation in which novel partnerships are developed to address the needs of patients with rare diseases and unmet medical needs.
DiMario Jr., F. J. (2019, January 20). Tuberous Sclerosis - NORD. National Organization for Rare Disorders. Retrieved August 4, 2022, from https://rarediseases.org/rare-diseases/tuberous-sclerosis/
The Ottawa Hospital. (2022, January 1). William Stanford. Researcher Profiles. Retrieved August 4, 2022, from https://www.ohri.ca//profile/wstanford
Pietrobon, A., Yockell-Lelièvre, J., Flood, T. A., & Stanford, W. L. (2022). Renal organoid modeling of tuberous sclerosis complex reveals lesion features arise from diverse developmental processes. Cell Reports, 40(1), 1-23. 10.1016/j.celrep.2022.111048
Photo credit: Pawel Czerwinski (2020). Water droplets like cells [Image]. https://unsplash.com/photos/SOHqP5gmvFU
Written by: Shir Grunebaum MSc