Source: Neurology Live
Publish Date: August 21, 2024
By Jeffery Vance, MD, PhD
Isabella Ciccone, MPH
Fact checked by Marco Meglio

The Alzheimer’s Disease Sequencing Project (ADSP) is an initiative by the National Institute on Aging focused on identifying genetic variants that either increase the risk of or provide protection against Alzheimer disease (AD). In its current phase, the study concentrates on whole genome sequencing in non-European populations, including Hispanic/Latino, non-Hispanic Black individuals with African ancestry, and Asian groups. At the 2024 Alzheimer’s Association International Conference, held from July 28 to August 1, in Philadelphia, Pennsylvania, a recent study provided an overview of the clinical characteristics within the ADSP cohorts.¹

Presented by coauthor Jeffery M. Vance, MD, PhD, and his team, the ADSP now includes 40 cohorts totaling approximately 36,300 participants. Researchers plan to sequence over 110,000 individuals from diverse racial and ethnic backgrounds. To date, genotyping, sequencing, and clinical adjudication have been completed for 36,361 participants. The mean ages of cases and controls across cohorts ranged from 57.0 to 86.5 years for cases, and 63.3 to 90.0 years for controls. Women made up about 61% of the participants, with 60.3% in the case group, 63.7% in the cognitively unimpaired group, and 55.8% in the AD and related dementia group. Additionally, the highest frequency of APOE ε4/ε4 carriers was found among non-Hispanic white patients (7.4%), while the lowest frequency was observed in Asian participants (1.7%).

At the conference, Vance also gave a symposium presentation titled “Accelerating Therapeutic Development: A Global Commitment by the Alzheimer’s Disease Sequencing Project”. In an interview during the meeting, Vance, the director of the Center for Genomic Medicine at the Miami Institute for Human Genomics, sat down with NeurologyLive^® to discuss how different APOE variants influence AD risk, and potential therapies that are being explored based on these findings. Deeper into the conversation, Vance, who also serves as a professor in the Department of Human Genetics and Neurology at the University of Miami Miller School of Medicine, talked about challenges that researchers face in developing treatments that are effective across diverse global populations. Moreover, he spoke about how the high cost of emerging AD treatments can potentially be managed to ensure accessibility, especially in low- and middle-income countries.

Click here for more coverage of AAIC 2024.

REFERENCES
1. Leverenz JB, Patel P, Bekris LM, et al. Synuclein Aggregate Assay Performance in Autopsy-Confirmed Lewy Body Dementia: Results from the U.S. Dementia with Lewy Bodies Consortium. Presented at: 2024 Alzheimer’s Association International Conference; July 18 to August 1; Philadelphia, Pennsylvania.

Navigating the Initial Stages: A Guide for Newly Diagnosed Alzheimer’s Patients
Receiving a diagnosis of Alzheimer’s disease can be a pivotal moment filled with uncertainty and concern. However, arming yourself with knowledge and understanding what steps to take next can provide a sense of control and preparedness. Here’s a practical guide for individuals who have recently been diagnosed with Alzheimer’s.

Understanding Your Diagnosis

Learn About Alzheimer’s Disease
Begin by understanding the basics of Alzheimer’s, including its symptoms, progression, and the typical challenges it presents. Reliable sources such as the Alzheimer’s Association, medical journals, and your healthcare provider can offer valuable information.

Discuss Your Diagnosis in Detail
Have an in-depth discussion with your doctor about your specific diagnosis, including the stage of the disease, expected progression, and any particular concerns you should be aware of. Don’t hesitate to ask questions or request further clarification.

Establishing a Support System

Involve Family and Friends

• • Share your diagnosis with family and friends whom you trust and who might be part of your support network. They can offer emotional support and help with managing daily tasks and medical appointments.

Connect with Support Groups

• • Consider joining a support group for Alzheimer’s patients. Sharing your experiences and hearing others’ can be therapeutic and reduce feelings of isolation.

Planning for the Future

Legal and Financial Planning

• • Early planning for the future is crucial. Consult with legal and financial advisors to discuss setting up a power of attorney, creating a living will, and organizing your finances. This is critical to ensure that your wishes are respected as your condition progresses.

Healthcare Planning

• • Work with your healthcare team to outline a treatment plan. Discuss medications, therapies, and lifestyle changes that can help manage symptoms and potentially slow the disease’s progression.

Managing Daily Life

Adapt Your Living Environment

• • Modify your home to make it safer and more comfortable as your needs change. This might include installing safety rails, removing trip hazards, and ensuring good lighting throughout your home.

Establish Routines

• • Keeping a daily routine can help manage anxiety and confusion, which are common as Alzheimer’s progresses. Try to maintain regular times for activities like eating, sleeping, and socializing.

Keeping Physically and Mentally Active

Stay Physically Active

• • Regular physical activity can help maintain your health and wellbeing. Activities like walking, light yoga, and tai chi are beneficial and enjoyable.

Engage in Cognitive Activities

• • Keep your mind active with puzzles, reading, music, or other hobbies that you enjoy. These activities can provide a sense of achievement and enjoyment.

Seeking Regular Medical Care

Continuous Medical Follow-up

• • Regular check-ups with your healthcare provider are important to monitor your health and adjust treatments as necessary. Always keep a list of any changes in your symptoms, medication effects, or general health to discuss during appointments.

Embracing Emotional Well-being

Mindfulness and Relaxation

• • Practices such as meditation, breathing exercises, and relaxation techniques can help manage stress and improve your emotional resilience.

Conclusion

While an Alzheimer’s diagnosis is undoubtedly challenging, taking proactive steps to manage your condition can help maintain your quality of life. Remember, you are not alone—leveraging support from loved ones, healthcare professionals, and the Alzheimer’s community can provide comfort and practical assistance as you navigate this journey.