NYSCF Fellows Publish Research in Nature
NYSCF applauds NYSCF-Druckenmiller fellows Gabsang Lee and Christopher Fasano for their work, recently published in Nature, demonstrating that a rare but devastating neurological disease can be modeled in a petri dish. This holds exciting promise for understanding Familial Dysautonomia (FD), a genetic disease for which an animal model has been unavailable. This work further highlights the importance of using stem cells as a model of disease and provides hope for drug discovery to combat the disease.
Dr. Lee and Dr. Fasano’s work expands upon last year’s revolutionary breakthrough research funded by NYSCF in which Dr. Kevin Eggan, NYSCF Chief Scientific Officer, was the first scientist to replicate specific human cells affected by disease in a laboratory.
Led by Dr. Lorenz Studer at Memorial Sloan Kettering Cancer Center, Dr. Lee and Dr. Fasano used reprogramming technology to generate pluripotent stem cell lines using skin samples from patients with FD. These stem cells were used to make the sensory neurons, which control functions like touch and blood pressure, but which degenerate in FD. Using these neurons, which have never before been available for study, they showed preliminary evidence that potential drugs previously proposed to treat FD, correct significant defects in these neurons related to the pathogenesis of the disease. They intend to use this model to further test potential drugs for FD. This study shows the promise of using induced pluripotent stem cells to study diseases and test drugs on them. Below is an interview with Dr. Lee, the first author on the recently published paper.
Why are you doing stem cell research and why did you get into it?
I believe that stem cell research is very important to understand how our body can make each cell type and how it directly relates to numerous human diseases. The more we know about stem cells, the more likely we are to cure diseases. This can be done by direct cell replacement therapy with stem cells as well as by modeling diseases with patient-specific stem cells in a petri dish. There are many diseases we cannot cure, or even treat, which is one of the reasons why I am working on stem cells research.
What is your new paper about?
This study is about modeling disease with patient-specific cells. First, we used patient skin cells to make “stem cells” and these stem cells were induced to neurons, the most relevant cell type of this disease (familial dysautonomia or FD). Then in these neurons in the petri dish, we found that some disease specific genes were missing and we also validated candidate drugs.
What is familial dysautonomia?
FD is a congenital disease in which patients have symptoms in their autonomic (“fight or flight”) and sensory (“pain perception”) systems. Currently there is an effort to find an effective drug. For more information, you may visit the website of The Dysautonomia Foundation (www.familialdysautonomia.org)
Why is your work in the paper important and why is it exciting?
Currently, it is very hard to obtain patient samples of human diseases for studying illnesses so it hampers the progress of finding cures or drugs. Our study presents an example for usage of skin cell-derived stem cells to isolate patient specific cells, which will enable many scientists and doctors to model diseases and validate potential drugs in a petri dish.
How can this help lead to a cure for familial dysautonomia and other diseases?
We established “stem cells” from patient skin cells and made FD-relevant cell types (neurons). These FD neurons will be valuable for understanding how FD occurs and how we can prevent those symptoms. Furthermore FD study will help us to understand other related diseases. Eventually, I hope these FD neurons from our study can be useful for finding drugs that can treat and even cure the disease.