Example 1
Hope for people with rare disease – new treatment approaches thanks partly to animal research
Timothy syndrome is a rare genetic disease caused by a mutation in a gene. This mutation prevents certain calcium channels closing correctly in cells. As a result, communication between nerve cells, heart muscles and other cell types is disrupted, causing heart problems, autism and epilepsy. However, new research approaches are bringing hope of an effective treatment.
Timothy syndrome research helpful for other neurological diseases too
Research into Timothy syndrome is not only furthering the development of a specific treatment for patients, but also providing valuable findings for other neurological diseases, as is illustrated by the work done by scientist Sergiu P. Pașca and his team at Stanford University. After 13 years of research, they developed a way of replicating the calcium channel malfunction using cerebral organoids, miniature brain structures obtained from human stem cells. Initial successes were achieved in the laboratory using simple cells, then in complex “mini brains” (organoids) in the laboratory and following transplantation of the organoids into the brains of rats.
From cell cultures to organoids
Pașca’s research started in 2009, when he grew neural cells from skin cells obtained from patients with Timothy syndrome. As a result, it was possible to visualise defects in the laboratory for the first time, even if only in a flat cell culture. To create more realistic models, the team developed three-dimensional cerebral organoids (“mini brains”) that simulate certain aspects of human brain development.
Initial success with new form of treatment
The team tested a new form of treatment that could partially reverse the gene mutation that causes Timothy syndrome. Experiments with organoids were successful, calcium channel activity normalised. These results show the treatment’s potential for patients.
Why animal testing was necessary
Before a treatment can be authorised for use in humans, it must have been shown to be safe and effective. Today, that still means testing it in a living organism. This is why the researchers transplanted human organoids into newborn rats and gave them the new treatment. The results were highly promising, since the same positive effects were observed as in the organoids. Animal testing served two main purposes: providing a way of investigating how human brain cells behave in a living brain and determining whether the treatment is effective and well tolerated in a complex organism.
The research combines modern alternative methods with essential animal testing for the purpose of developing a new treatment for Timothy syndrome and similar diseases, and of reducing animal testing to the necessary minimum.
Further information:
- About the rare disease Timothy syndrome
- About the research done by Sergiu Pasca
- Link to the article in Nature Communications
Figure: From stem cell culture to organoid transplantation into the living organism
Animal testing is often indispensable in biomedical research as a way of assessing the safety and efficacy of new treatments. It provides insights into the complex interactions that take place inside a living organism in a way that is not possible using alternative methods alone. Researchers are increasingly developing alternative methods such as organoids to further reduce the use of animals.