University at Buffalo Researchers Are Using a Precision Medicine Approach for Novel Alzheimer's Therapeutics

University at Buffalo (UB) researchers have identified the first human-specific fusion gene—a hybrid of two genes—implicated in Alzheimer’s disease. Led by Kinga Szigeti, MD, PhD, the research team showed that a more personalized approach to each patient may be required, based on the patients’ genotype. Using stem cells derived from the patients’ own skin cells, they developed an in vitro model system to study how the novel fusion gene modifies neurons in Alzheimer’s disease, showing that this human fusion gene acts on a receptor for the neurotransmitter acetylcholine, which is involved in memory and learning. Their approach proposes that for each person the neurotoxic level of amyloid, which is increased in Alzheimer’s disease, depends on both the level of amyloid beta and on the health and resistance of their neurons, and that successful therapy in humans will depend on targeting both. This work was supported by a UB Clinical and Translational Science Institute (CTSI) pilot study and by CTSI cores.