The NBIA Disorders Association has awarded a $45,000 research grant to a team of German scientists studying stem cells in patients with the NBIA disorder known as FAHN.
Led by Dr. Andreas Hermann, along with Drs. Moritz Frech and Jiankai Luo of the University Medical Center Rostock, the team will create a model of FAHN, or Fatty Acid Hydroxylase-associated Neurodegeneration, in the lab, along with stem cells to better understand how the disease works. With that understanding, the researchers can advance to testing potential therapies to see whether they can reverse FAHN’s effects.
The team plans to create a supply of patient-specific induced pluripotent stem cells, which have the capacity to become any cell in the body. They can also self-renew, meaning that they divide and produce more stem cells.
To develop these stem cells in the lab, cells will be taken from the connective tissue of FAHN patients. Researchers will then use a gene-editing technology, CRISPR/Cas9, to add copies of certain genes to the cells, endowing them with a stem cell’s special characteristics. They can develop into central nervous system cells that may be affected by FAHN.
The researchers will team up with Dr. Sunita Venkateswaran, an assistant professor and pediatric neurologist at the University of Ottawa. She is well established in the field of NBIA and will collaborate with the team on the research.
The project is called "In vitro disease modeling of Fatty Acid Hydroxylase-associated Neurodegeneration (FAHN): Patient specific induced pluripotent stem cells and their neuronal derivatives as human models of FAHN.” It is being funded from March 1, 2020, through Feb. 28, 2021.