American Society of Human Genetics Honors Dr. Margaret Pericak-Vance with Lifetime Achievement Award

The annual award recognizes the John P. Hussman Institute for Human Genomics director’s substantial and far-reaching scientific contributions to human genetics.


By Lisette Hilton

Margaret Pericak-Vance, Ph.D., director of the John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Professor of Human Genetics at the University of Miami Miller School of Medicine, has been honored with the American Society of Human Genetics’ (ASHG) 2024 Lifetime Achievement Award.

Dr. Pericak-Vance, who received her award at the ASHG’s annual meeting in Denver on Nov. 7, delivered a moving acceptance speech that touched on major personal and professional milestones. She acknowledged friends, family and colleagues for their support throughout her career.

“Thank you to all of my friends and family and collaborators and everyone who has supported my journey. Without you this would not have been possible,” said Dr. Pericak-Vance. “Genetics is a team science, and we need each other to move the field forward.”

Former winners include Nobel Prize winners Joseph L. Goldstein, Michael S. Brown and Kary B. Mullis, as well as Alec Jeffreys, who established DNA fingerprinting, and physician-scientist Dr. Francis S. Collins, to name a few.

To Learn More, Visit The Millers School Of Medicine

Finding That APOE4 Is Toxic in Alzheimer’s Can Help Guide Targeted Therapies

— Differing risk of APOE4 between ethnic backgrounds also may come into play


By Greg Laub
Interview With Jeffery Vance, MD, PhD

A working group of senior investigators, convened by the Alzheimer’s Disease Sequencing Project  (ADSP), has reached a consensus that the APOE4 gene, long debated in Alzheimer’s research, is definitively toxic. This breakthrough not only opens the door for targeted therapies but also underscores the gene’s varying risk levels across different populations.

In this exclusive MedPage Today video, Jeffery Vance, MD, PhD, of the University of Miami Miller School of Medicine, describes the findings from the data analysis and how they might significantly reshape the future of Alzheimer’s treatment strategies.

For the full video and transcript, please visit Med Page Today.

Uncovering Why Studying Diverse Populations Is Crucial to Alzheimer’s Research

Lessons from the Alzheimer’s Disease Sequencing Project and subsequent DAWN study


By Greg Laub
Interview With Margaret Pericak-Vance, PhD

The DAWN study is an international, multi-site initiative to expand Alzheimer’s disease genetic research in underrepresented African ancestry populations and Latino groups.

In this exclusive MedPage Today video, Margaret Pericak-Vance, PhD, director of the John P. Hussman Institute for Human Genomics at the University of Miami Miller School of Medicine in Florida, discusses how the Alzheimer’s Disease Sequencing Project, which helped uncover the importance of including diverse populations in Alzheimer’s research, led to the subsequent DAWN study.

Following is a transcript of her remarks:

The goal of the Alzheimer’s Disease Sequencing Project was to sequence a large number of individuals to find the genetic variations — those with the disease and those who are cognitively unimpaired — to be able to identify genes that cause risk or even genes that are involved in prevention.

For the full video and transcript, please visit Med Page Today.

Exploring Genetic Variants and Global Challenges in Alzheimer Disease Research: Jeffery M. Vance, MD, PhD


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

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African Ancestry Individuals with Higher Educational Attainment Are Resilient to Alzheimer’s Disease Measured by pTau181

The article titled “African Ancestry Individuals with Higher Educational Attainment Are Resilient to Alzheimer’s Disease Measured by pTau181” explores the relationship between education and resilience to Alzheimer’s disease (AD) in individuals of African ancestry. The study focuses on a specific biomarker, pTau181, which is associated with Alzheimer’s-related brain changes. Researchers found that individuals with higher educational attainment (EA) showed greater resilience to Alzheimer’s disease, even when they had high levels of pTau181.

This means that those with more education were better able to maintain their cognitive and functional abilities despite the presence of Alzheimer’s pathology.
The study involved 410 African American participants and examined their educational levels, cognitive function, and the presence of the APOE ɛ4 gene variant, which is known to increase the risk of Alzheimer’s. The results indicated that higher education was linked to better functional abilities. However, this protective effect was less pronounced in individuals carrying the high-risk APOE ε4 allele.

This research highlights the importance of education as a protective modifiable factor against Alzheimer’s disease.  It suggests that educational attainment can provide cognitive resilience, helping individuals to better cope with the disease’s effects. The findings are significant because they offer insights into potential interventions that could help reduce the impact of Alzheimer’s in African American communities.

In summary, the study demonstrates that higher educational attainment is associated with greater resilience to Alzheimer’s disease in individuals of African ancestry. This resilience is measured by the ability to maintain cognitive and functional abilities despite high levels of the Alzheimer’s biomarker pTau181. The research underscores the value of education in promoting brain health and suggests that increasing educational opportunities could be a key strategy in combating Alzheimer’s disease

Rajabli F, Seixas AA, Akgun B, Adams LD, Inciute J, Hamilton KL, Whithead PG,
Konidari I, Gu T, Arvizu J, Golightly CG, Starks TD, Laux R, Byrd GS, Haines JL,
Beecham GW, Griswold AJ, Vance JM, Cuccaro ML, Pericak-Vance MA.

African Ancestry Individuals with Higher Educational Attainment Are Resilient to Alzheimer’s Disease Measured by pTau181.

J Alzheimer’s Dis. 2024;98(1):221-229. doi:
10.3233/JAD-231116. PMID: 38393909; PMCID: PMC11091636

Brain Donations: Attitudes And Perceptions Among African Americans

Synopsis: Evaluating the brain after death is considered the gold standard for diagnosing most brain disorders. However, while Black\African Americans are twice as likely to develop Alzheimer’s disease as compared to non-Hispanic Whites, they make up less than 2% of brain donations for research. More participation of Black / African Americans in this research will be important to make progress toward effective treatments.

Results: We have looked at attitudes toward brain donation and perceptions of medical research. Surveys distributed to 227 Black / African American community members found that:

  • 27% reported being likely to donate their brain to research after death vs. 32% who reported not being likely.
  • 73% of people said that they trust medical researchers.
    Few people had ever been asked to donate their brain (11%) or a loved one’s
    brain (6%).
  • Families play a major role in the decision for brain donation. Many people were
    not confident if their family would carry out their wish for brain donation to
    research.
  • Most people believe that their family would be more likely to discuss brain
    donation if they had more information about it.

Conclusions: This survey serves as a first step in increasing our understanding of how to engage Black / African Americans in brain donation research. Overall, the major takeaways from the survey are:

  • Though community members reported relatively low levels of knowledge about
    Alzheimer’s disease and brain donation research there was also high levels of
    trust and hope in research and science to cure diseases which may be an
    important opportunity for sharing the importance of brain donation so that
    community members can make informed decisions about participating in
    research and brain donation.
  • Only about a quarter of the surveys were completed by males. More efforts to
    find out about how to interest Black\African American males in research on
    Alzheimer’s disease and brain donation are critically needed. Providing this
    information to men in locations where men are already gathered, such as
    barbershops or faith-based institutions may be a useful approach.

The DAWN Study’s Guide to the Early Signs and Symptoms of Alzheimer’s and Dementia

As a leading research organization dedicated to the study of Alzheimer’s disease and dementia, we understand the profound impact that early detection can have on management and treatment outcomes. Recognizing the early signs and symptoms is crucial for initiating timely interventions and planning for the future. Based on our extensive research, here are the key early indicators that may suggest the onset of Alzheimer’s or dementia.

Memory Loss That Disrupts Daily Life
A significant early symptom of Alzheimer’s is memory loss that affects daily functioning. This goes beyond misplacing keys to forgetting significant dates and repeatedly asking for the same information, requiring more frequent use of memory aids.

Challenges in Planning or Problem Solving
Individuals may start to experience difficulties with tasks that require planning or dealing with numbers. This can include challenges in following recipes, managing monthly bills, or solving problems that were previously handled with ease.

Difficulty Completing Familiar Tasks
There may be a noticeable decline in the ability to perform familiar tasks. This could manifest as difficulties in navigating to known locations, managing workplace tasks, or recalling the rules of familiar games.

Confusion With Time or Place
Patients may lose track of dates, the time of year, or the passage of time, and may become confused about where they are or why they are there. This confusion with time or place is a common sign of cognitive impairment.

Visual and Spatial Difficulties
Visual and spatial difficulties are also indicative of Alzheimer’s, including problems with reading, judging distance, and differentiating color or contrast, which may affect an individual’s ability to drive safely.

Problems With Words in Speaking or Writing
Communication issues often arise, with individuals struggling to follow or join conversations, finding the right words, or repeating themselves. This can lead to withdrawal from social interactions.

Misplacing Things
An increase in misplacing personal items and an inability to retrace steps to locate them can be an early sign of cognitive decline. Such incidents may also lead to accusations of theft and increased mistrust among familiar faces.

Decreased Judgment
Changes in judgment or decision-making can manifest, seen in poor financial decisions or a neglect of personal grooming and hygiene, impacting daily life quality.

Withdrawal From Social Activities
Individuals might withdraw from work, social activities, or hobbies that were once pleasurable, often due to their recognition of cognitive challenges.

Changes in Mood and Personality
The mood and personality of individuals can change dramatically, including the development of depression, irritability, or anxiety, which can drastically alter their usual behavior.

The Importance of Early Detection
Our organization emphasizes the importance of early detection and diagnosis. By recognizing these symptoms early, individuals can access treatments that may delay the progression of the disease and significantly improve quality of life. Moreover, early diagnosis enables better planning and support for affected individuals and their families, ensuring they receive the necessary care and resources. If you or someone you know is exhibiting these signs, we recommend consulting a healthcare professional for a thorough evaluation. Early intervention is critical in managing Alzheimer’s and dementia effectively and can lead to better outcomes for all involved.

 

 

Understanding 10 Early Signs and Symptoms of Alzheimer’s and Dementia

Understanding the Early Signs and Symptoms of Alzheimer’s and Dementia

Alzheimer’s disease and dementia are progressive neurological disorders that significantly impair cognitive functions, notably affecting memory, reasoning, and the ability to perform everyday activities. These conditions evolve gradually, often making early signs subtle and easily overlooked. Recognizing these early symptoms is crucial for timely medical intervention and effective long-term management. This guide gives a detailed look at the main symptoms to watch for if you or someone close to you might be facing these challenges.

Memory Loss That Disrupts Daily Life

Memory loss is often the most prominent and commonly recognized symptom of Alzheimer’s. This goes beyond just small moments of forgetfulness, like losing your keys. It also includes forgetting important dates, daily events, and key conversations.

Such memory lapses can be both disorienting and distressing, affecting an individual’s ability to function independently. People with Alzheimer’s may repeatedly ask the same questions, even after someone has given them an answer. They may also use memory aids like sticky notes, digital reminders, or help from family to help with daily tasks. Memory loss at this level impacts personal and professional life, showing how serious the disease is.

Challenges in Planning or Problem Solving

Individuals in the initial stages of Alzheimer’s often find it increasingly difficult to create plans or solve problems. Symptoms may include difficulty following tasks that were once straightforward. Some examples are cooking familiar recipes and managing personal finances. The reduction in cognitive abilities can lead to heightened stress and anxiety.

Difficulty Completing Familiar Tasks

As Alzheimer’s progresses, even routine tasks can become daunting challenges. Those affected may have trouble finding their way around places they know.

They may also have trouble keeping track of their work finances. Additionally, they may struggle to remember how to play games they used to enjoy without any effort. These challenges are clear indicators of cognitive decline and signal the need for medical evaluation and intervention.

Confusion With Time or Place

One of the hallmarks of early-stage dementia is a loss of understanding of time and place. Individuals may lose track of dates, forget the current season, or have difficulty understanding the passage of time. They may feel disoriented—not just temporarily but in a more persistent manner that affects their daily functionality.

Confusion can be distressing for people who can’t recognize their surroundings or what they should do. This experience can make them feel anxious and overwhelmed. Providing clear instructions and guidance is important to help them feel more comfortable and confident. This can help reduce their stress and improve their overall experience.

Visual and Spatial Difficulties

Visual and spatial difficulties are also significant indicators of Alzheimer’s. Affected individuals may experience trouble with reading, judging distance, distinguishing colors, or recognizing faces. These problems can be especially troublesome because they can impact driving, navigating new places, and participating in regular activities. This can make daily routines and personal safety more difficult.

Problems With Words in Speaking or Writing

Communication issues are prevalent among those with Alzheimer’s. Affected individuals may struggle to follow or maintain conversations, find appropriate words, or may repeat phrases and sentences. Interruptions in speech or not being able to continue a conversation are common and can significantly hinder effective communication and social interactions.

Misplacing Things

Misplacing personal items in unlikely places is a common issue faced by individuals with Alzheimer’s. This could involve placing keys in the freezer or a wallet in the sugar bowl. They often have trouble remembering where they put their belongings. This can cause frustration and accusations of theft because of memory problems.

Decreased Judgment

Alzheimer’s often leads to a noticeable decline in judgment and decision-making abilities. This might manifest as poor financial decisions, such as spending money in error, or neglecting personal grooming and hygiene. Such behaviors are out of character for the individual and indicative of cognitive decline.

Withdrawal From Social Activities

As they notice changes in their cognitive abilities, individuals with Alzheimer’s may withdraw from activities they previously enjoyed. This could include social activities, work projects, or hobbies. Realizing you can’t do as much as before can make social interactions less enjoyable and more stressful. This can lead to feeling more alone and a lower quality of life.

Changes in Mood and Personality

Mood and personality changes are common as Alzheimer’s progresses. Individuals may experience increased confusion, suspicion, depression, fear, or anxiety. These emotional fluctuations can significantly affect individuals, especially in unfamiliar settings, and can result in increased social withdrawal.

Strategies for Managing Early Symptoms

Understanding and recognizing the signs of Alzheimer’s and dementia is the first step in managing the condition effectively. If you have any of these symptoms, you should schedule a visit to see a doctor.

An early diagnosis allows for the use of medications that can slow down symptoms and improve quality of life. The diagnosis can help manage the symptoms better and improve the overall quality of life. Patients can use medications to slow down the progression of symptoms and improve their quality of life.

Additionally, lifestyle changes, including maintaining a healthy diet, regular physical exercise, and engaging in cognitive exercises, can help manage symptoms and support cognitive health. Creating a supportive environment that reduces stress and confusion can also be beneficial. This could mean using clear labels at home. Sticking to a routine and simplifying daily tasks can also help reduce mental strain.

Conclusion

A positive diagnosis of Alzheimer’s disease can feel like a lot to handle. However, knowing the early signs and symptoms can be helpful. This knowledge can empower individuals and their families to take action. They can start managing and caring for the condition sooner.

With appropriate support, interventions, and lifestyle adjustments, those with Alzheimer’s can continue to lead meaningful lives. Recognizing these signs can help caregivers and families deal with Alzheimer’s and dementia. It can also help them prepare for the changes that come with these conditions.

Self-Care Strategies for Individuals Newly Diagnosed with Alzheimer’s Disease

Receiving a diagnosis of Alzheimer’s disease can be overwhelming and may evoke a range of emotions from shock to sadness. However, focusing on self-care can help manage the disease’s progression and maintain quality of life. Here are some essential self-care strategies for those recently diagnosed with Alzheimer’s.

1. Educate Yourself About the Disease
Understanding Alzheimer’s is crucial. Knowledge about the disease’s progression, treatment options, and lifestyle management can empower you and reduce anxieties about the unknown. Reliable sources include the Alzheimer’s Association, medical professionals, and educational books and materials specifically about dementia care.

2. Establish a Support Network
Build a supportive network that includes family, friends, and healthcare professionals. Support groups can also be invaluable, providing a space to share experiences and coping strategies with others facing similar challenges.

3. Manage Health Proactively
Work with healthcare providers to manage the disease and any other health issues. This might include regular check-ups, medication management, and following medical advice closely. Proper management can slow the progression of symptoms.

4. Maintain a Healthy Lifestyle
A balanced diet, regular physical activity, and adequate sleep are foundational to managing Alzheimer’s. Brain-healthy foods, such as those rich in antioxidants and omega-3 fatty acids, can support brain health. Exercise can enhance heart health and possibly improve cognitive function.

5. Establish Daily Routines
Routine can be comforting for those with Alzheimer’s, as it provides structure and predictability. Try to keep regular times for activities like meals, bedtime, and exercise.

6. Keep Your Brain Active
Engage in activities that stimulate the brain. This might include puzzles, reading, or playing music. Learning new skills or hobbies can also provide stimulation and a sense of accomplishment.

7. Simplify Tasks and Environment
Make daily life easier by organizing and simplifying your living space. Labeling cabinets, using safety devices, and removing clutter can reduce frustration and enhance safety.

8. Plan for the Future
Early in the diagnosis, it’s important to discuss and plan for future care preferences. This might involve legal and financial planning, including the designation of a power of attorney and discussing living arrangements.

9. Practice Stress Management Techniques
Stress can exacerbate Alzheimer’s symptoms, so it’s important to find effective ways to relax and manage stress. Techniques such as mindfulness, meditation, gentle yoga, or even regular walks can be helpful.

10. Stay Socially Connected
Maintaining social connections can provide emotional support and stimulate cognitive function. Participate in social activities, family gatherings, or community programs designed for individuals with Alzheimer’s.

Conclusion
Caring for yourself after an Alzheimer’s diagnosis is crucial for managing the disease effectively. By adopting these strategies, individuals can maintain their independence longer and improve their quality of life. Remember, you are not alone on this journey—utilize resources and support systems available to you for the best possible care.

Living With Alzheimer’s: Navigating the Day-to-Day Realities

Alzheimer’s disease is more than just a medical condition; it’s a deeply personal journey that affects every aspect of life for those diagnosed and their loved ones. Living with Alzheimer’s means adapting to a progressively changing landscape of capabilities and emotions. This article explores the day-to-day realities of living with Alzheimer’s, highlighting both the challenges and the strategies that can help manage the journey.

Understanding the Impact
Alzheimer’s disease progressively impairs cognitive abilities, affecting memory, thinking skills, and problem-solving. This can lead to confusion, frustration, and a feeling of loss as one’s mental faculties decline. Simple tasks that were once taken for granted—remembering names, following conversations, managing finances—become increasingly difficult.

Emotional Rollercoaster
Living with Alzheimer’s can be an emotional rollercoaster, not just for the person diagnosed but also for their family and friends. The person with Alzheimer’s may experience a range of emotions, from anger and frustration to depression and apathy. Emotional support from loved ones is crucial, as it provides comfort and helps maintain emotional stability.

Daily Life Adjustments
As Alzheimer’s progresses, daily routines and environments often need to be adjusted to manage the disease’s impact effectively. This might involve:

Structured routines to provide a sense of security and predictability.
Safety modifications in the home to prevent accidents.
Simplified choices to reduce confusion and decision-making stress.

Coping with Memory Loss
Memory loss is one of the most common and challenging symptoms of Alzheimer’s. Individuals may forget familiar faces, important events, or personal history. Coping strategies include:

Memory aids, such as notebooks, labeled photos, and digital reminders.
Regular routines that help reinforce memory through repetition.
Engaging storytelling where family and friends share memories and stories to help jog recognition.

Navigating Social Interactions
Social interactions can become challenging due to difficulties with communication and behavioral changes. However, social engagement is vital for emotional health and cognitive function. Tips for navigating social interactions include:

Small group settings, which can be less overwhelming.
Clear communication, using simple sentences and maintaining eye contact.
Continued social activities, adapted to fit the current capabilities of the person with Alzheimer’s.

The Role of Caregivers
Caregivers play an essential role in the life of someone with Alzheimer’s. The responsibility is substantial, often involving management of daily activities, medical care, and emotional support. Caregivers need to practice self-care as well, ensuring they have the resilience and resources to provide effective support.

Finding Support
Numerous resources and support systems are available for those living with Alzheimer’s and their caregivers. Support groups, both in-person and online, can offer advice, companionship, and understanding from those on similar journeys. Professional help from counselors or therapists can also be beneficial.

Conclusion
Living with Alzheimer’s is undoubtedly challenging, but with the right strategies and support, it can be managed. Adapting to the changes, seeking support, and focusing on quality of life can help ensure that both those with Alzheimer’s and their caregivers find meaning and joy in their daily interactions. Remember, you are not alone in this journey—embracing community resources and shared experiences can provide comfort and guidance.

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