Researchers discovered that even one copy of a protective genetic variant can help prevent early-onset Alzheimer's disease. This finding originated from a unique patient case, who did not develop cognitive impairment until her late 70s, despite a high genetic risk for the condition. Published in The New England Journal of Medicine, the study provides the first evidence that a single copy of the Christchurch variant (APOE3Ch) may offer protection against autosomal dominant Alzheimer's, although less effectively than two copies. Further investigation, led by Yakeel T. Quiroz, PhD and Joseph Arboleda-Velasquez, revealed 27 family members, who carried both the Paisa mutation and one copy of the Christchurch variant experienced a delayed onset of Alzheimer's disease compared to those without the Christchurch variant. The presence of the APOE3Ch, whether alone or in combination with the Paisa mutation, provides some level of protection against Alzheimer’s. Functional brain imaging and autopsy samples supported the protective role of the Christchurch variant, showing less Alzheimer’s pathology. The findings are promising for drug development for delaying cognitive decline and dementia in older individuals, indicating potential benefits of targeting this genetic mechanism, and develop effective interventions for Alzheimer's and guide treatments for broader Alzheimer's populations. Functional brain imaging and autopsy samples supported the protective role of the Christchurch variant, showing less Alzheimer’s pathology. The findings are promising for drug development, indicating potential benefits of targeting this genetic mechanism to delay cognitive decline and dementia in older individuals. These results align with gMendel®'s mission to expand treatment options through improved, faster, and more affordable companion diagnostics for genetic disorders, including Alzheimer's. 👉 Please read more at: https://lnkd.in/dVTWxQTc #Alzheimer #genetics #genomics #screening #diagnostics #rarediseases #geneticdisorders #healthcare #innovation #healthtech #AI #artificialintelligence #machinelearning #companiondiagnostics #precisionmedicine #VC #venturecapital Mass General Brigham Alzheimer's Association®
We need early diagnostic tools pronto!
Pain physician at Copenhagen Cryo Center
3moEarly diagnosis fo ALS and MS too.