University of California, San Diego

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Advancing a Precision Medicine Approach towards Preventing and Treating Early-Onset Dementia

Alzheimer’s Disease (“AD”) is a pandemic in the making, significantly affecting more than 46 million patients globally, as well as approximately 1 out of every 10 seniors over 70 years of age in Hong Kong. At present, there are no tests that can accurately predict the disease’s occurrence, with no forms of treatment as well to definitively halt its progression.

To address these critical gaps, physician-scientists and researchers at University of California, San Diego (“UCSD”), led by Professor William Mobley, are examining individuals younger than 60 years of age who have been diagnosed with the disease. Although presentation of AD under this age is relatively rare, studies of this phenomenon can powerfully inform research into genetic and environmental risk factors, as younger persons are hypothesized to have lesser chances to suffer from other coexisting health conditions that may also impact cognitive decline, therefore paving the way for a clearer investigation on exact pathology for all subtypes. Findings from such studies could revolutionize and advance ongoing breakthroughs in precision medicine – the field focusing on the ability to prevent disease or treat a patient based on his or her unique biological makeup and specific needs – in turn transforming the future of AD care for all patients, regardless of age.

UCSD’s effort integrates clinical care with leading-edge research at the Early-Onset Dementia Clinic (the “Clinic”) at UC San Diego Health, UCSD’s academic hospital. The Clinic, recently created to diagnose and compassionately care for patients with early-onset dementia, both fuels and draws upon research focusing on maximizing the medical community’s ability to understand, identify, prevent and treat AD, particularly with a precision approach. Patients visiting the clinic are thoroughly evaluated, with blood and skin cell samples collected to facilitate DNA analysis for genetic risk factors. In the Clinic’s state-of-the-art laboratory, the UCSD team can also transform skin cells into brain cell neurons, thereby providing an ethical, noninvasive medium for studying disease cause and trajectory. Areas of research focus include whether individual patients’ neurons show changes in measures of cellular function; how these changes could connect to each patient’s clinical and genetic data; and how computational approaches can help define change patterns and pinpoint whether they are characteristic of “typical” AD, or demonstrate unique genetic features. In addition, neurons present a highly individualized platform on which to test drugs that have the potential to reverse the disease.

Ultimately, with the support of the Foundation, these investigations will build upon UCSD’s demonstrated capacity and leadership in AD research, and elucidate new possibilities for patients across the AD age spectrum. Through the team’s trailblazing interdisciplinary research, evidence-based precision care, a commitment to engaging patients and caregivers through both clinical and educational efforts, it is hoped that this work will advance ongoing efforts in medicine to move ever closer to creating a world free of this debilitating disease.

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