A new research affecting the Alzheimer’s disease has identified 11 rare genetic variants. The study started from the observation of 19 different families living in Utah, affected by Alzheimer’s disease more frequently than was considered normal.
There Research, carried out by the researcher Justin Miller, Ph.D. of the University of Kentucky Sanders-Brown Center on Aging, was published in the scientific journal Alzheimer’s & Dementia.
Alzheimer’s disease: this is how the genetic sequencing of the 19 families took place
For the study, genetic sequencing was conducted on two cousins from each of the 19 families. Miller claims to have therefore identified genetic variants shared between both cousins: “We then used a series of filtering criteria to identify rare genetic variants that most likely contributed to theexcess Alzheimer’s in every family “, explained the expert.
Scientists discovered 11 rare genetic variants spanning 10 genes, including previously unknown variants in two known Alzheimer’s disease risk genes.
“Identifying people at increased risk of Alzheimer’s disease before they become symptomatic can lead to more timely and more effective interventions“Explained Miller. “Furthermore, our methodology for analyzing high-risk pedigrees can be used to prioritize rare genetic variants that are likely to contribute to the disease. “
Miller says that while this discovery will not have an immediate impact on patient care, they believe identifying the genetic variants associated with the disease is the first step in identifying potential drug targets that can be used to develop therapies.
Alzheimer’s disease: where are we in Italy?
Alzheimer’s disease, second an estimate made in 2020 affects 600,000 people in Italy alone and 48 million worldwide. Considered the leading cause of disability in old age, not. The dynamics that generate the disease are still known.
Despite this, scientific research does not give up and continues to bring new results, which make the road to more effective treatments less uncertain. To date, innovative approaches for cognitive rehabilitation are already available, even at a distance, and in recent days it was announced the first drug able to counteract the progression of the disease, Aducanumab, which we talked about comprehensively in a previous article.
According to the Dr. Sandro Iannaccone, Head of the Rehabilitation Unit of Cognitive-Motor Neurological Disorders ofIRCCS San Raffaele Hospital of Milan, for individuals with Alzheimer’s disease in initial and middle forms, rehabilitation can become fundamental to significantly slow down the progression of the disease, improving the quality of life of the patient and his family: “With the outbreak of the Covid-19 pandemic, the use of tele-rehabilitation, which had already proved very comfortable and effective for our patients, underwent a further acceleration”, Explained the scientist.
The San Raffaele telemedicine service guaranteed the possibility for patients to be able to dedicate themselves to rehabilitation sessions while working at home: “Once the rehabilitation program has been defined, the patient is followed remotely by psychologists and speech therapists who, through dedicated software, propose visual and acoustic exercises of ever-increasing complexity, aimed at memory rehabilitation and neuropsychological rehabilitation, ”Concludes Iannaccone.