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By Meghan McCarthy 

Editor’s Note: This article is part of the Disability and Dementia Series, which is an ongoing project aimed to highlight Alzheimer’s disease and related dementias (ADRD) experiences in individuals with intellectual disabilities.  

In a 2017 testimony to congress, advocate Frank Stephens stated: “I cannot tell you how much it means to me that my extra chromosome might lead to the answer to Alzheimer’s.” 

[Above: Video of Frank Stephens’ testimony]  

A powerful moment, Stephens’ message was clear. Individuals with Down syndrome (DS) must and should be included in Alzheimer’s disease research.  

It is estimated that over 50% of individuals with DS will develop Alzheimer’s disease (AD) as they age. To put it in perspective, approximately 11% of all adults aged 65 and older in the United States develop AD.  

Despite this, many disparities exist in standardized care and research inclusion methods for individuals with DS.  

Beth Wood Discusses the Evolution of Genetic Counseling Through Telehealth and Chatbots at AAIC 2024 

By Meghan McCarthy 

Author’s Note: This article is part of ongoing coverage of the 2024 Alzheimer’s Association International Conference (AAIC). To view all highlights, please click here.  

Elisabeth Wood, MS, LCGC, has been a genetic counselor at Penn Medicine since 2003. Originally working for the Center for Neurodegenerative Disease Research (CNDR), she spent over a decade focusing on genetic forms of dementias and related disorders. Currently, she works in the Penn Telegenetics Program, where she helps to conduct research on genetic counseling services via telehealth in both clinical and research settings.  

Wood sat down with Penn Memory Center (PMC) Staff Writer Meghan McCarthy to discuss her latest work using chatbots as an informational resource for individuals interested in or already receiving genetic counseling. She also presented her work at this year’s AAIC in Philadelphia.  

By Meghan McCarthy 

Author’s Note: This article is part of ongoing coverage of the 2024 Alzheimer’s Association International Conference (AAIC). To view all highlights, please click here.   

When Rafi walked into the Pennsylvania Convention Center, he was immediately taken by its sheer scale.  

Spanning over 2.1 million square-feet, the venue had large research posters hung throughout the exhibition space. Soft and loud sounds of bustling crowds filled hallways. Stages with prominent researchers and entertainment groups were broadcasted. A motif of purple and white adorned all spaces.  

With thousands of conference attendees, the 2024 Alzheimer’s Association’s International Conference convened researchers, clinicians, trainees, and families affected by Alzheimer’s disease and related dementias (ADRDs).  

Rafi was amongst the many care partners to take part in the event.  

By Meghan McCarthy 

Author’s Note: This article is part of ongoing coverage of the 2024 Alzheimer’s Association International Conference (AAIC). To view all highlights, please click here.  

Imagine a tiered, ornately decorated cake. Each tier has a unique flavor, filling, and frosting. The cakes are stacked at various heights and widths and adorned with décor. If you were to slice through each layer, you could distinctly identify each layer’s cake, filling, and frosting. While it would be possible to cut through all tiers together, you could appreciate and evaluate the flavors better by creating slices for the tiers singularly.

The process of analysis of brain donation is like cutting through and judging a multi-layered cake.

Penn Medicine and UC San Diego scientists will develop a tau-targeting drug candidate through IND-enabling studies

This illustration shows tau protein (red) becoming detached from a microtubule (blue). A new compound discovered by researchers at UC San Diego and University of Pennsylvania may be able to treat Alzheimer’s disease by normalizing microtubule structure and function. (Credit: Penn Today)

By Meagan Raeke, PennMedicine.org

A multidisciplinary team of scientists led by Kurt Brunden, Ph.D., at the University of Pennsylvania Perelman School of Medicine, and Carlo Ballatore, Ph.D., at University of California San Diego, has been awarded a $6.9 million grant from the National Institute on Aging (NIA) to prepare a potential disease-modifying Alzheimer’s treatment for future clinical trials. In a recently published study about the new compound, called CNDR-51997, the team found it was effective in restoring brain health in mouse models of Alzheimer’s disease. CNDR-51997 was identified through a joint drug discovery program at Penn and UC San Diego that was supported by grants from the NIA.

The new grant will help the researchers demonstrate the drug’s safety in formal studies required by the U.S. Food and Drug Administration (FDA) prior to the initiation of human testing. By the end of the three-year grant period, the researchers hope to submit an Investigational New Drug (IND) application to the FDA that, if approved, would allow for Phase 1 clinical studies.

By Meghan McCarthy  

Author’s Note: This article is part of an ongoing coverage of the 2024 Alzheimer’s Association International Conference (AAIC). To view all highlights, please click here.    

For the third consecutive year, I have had the privilege of interviewing physician-scientists and researchers to cover their work ahead of the Alzheimer’s Association International Conference (AAIC). These conversations are rich in information and inspiration for the future directions of work in Alzheimer’s disease and related dementias (ADRDs). Yet this year, with the conference being held in Philadelphia, and ongoing clinical trials to delay onset of dementia for early AD, I must admit there is a different air of excitement. Penn is a mecca of ADRD clinicians, researchers, and trainees.  This was our year to not only host but highlight the tremendous contributions individuals from Penn are making in the field.  

A leading force among this group is Virginia Man-Yee Lee, PhD, MSc, MBA.  

As the director of the Center for Neurodegenerative Disease Research (CNDR) at the University of Pennsylvania, Dr. Lee studies the role of different misfolded proteins in various neurodegenerative disorders of aging, including Alzheimer’s disease.  She has authored over 1,000 research publications and has been cited in over 200,000 articles. In recognition of her work, Research.com ranked her among the world’s top 100 scientists and as the third most prominent in 2024. She has been awarded dozens of academic honors, notably the Breakthrough Prize in Life Sciences in 2020, with a $3 million grant from a selection committee and funded by Facebook’s Mark Zuckerberg, Google’s Sergey Brin and others.  

Prior to this year’s conference, I sat down with Dr. Lee to discuss her conference presentation, views about the future of our field, and to catch up. Amongst our varied conversation, her main message was clear: the future of ADRD research is tau. 

By Meghan McCarthy 

Author’s Note: This article is part of ongoing coverage of the 2024 Alzheimer Association’s International Conference (AAIC). To view all highlights, please click here.   

Researchers at the Penn Frontotemporal Degeneration (FTD) Center found that high neighborhood deprivation levels are associated with shorter survival and faster cognitive decline in patients with behavioral-variant frontotemporal dementia (bvFTD).  

BvFTD accounts for nearly half of frontotemporal dementia (FTD) cases. Although symptoms can vary across patients, most patients with bvFTD experience impairments in social functioning and personality. With respect to cognitive symptoms, patients with bvFTD often experience deficits in executive function such as difficulty with multi-tasking, planning and organization. 

Last year, researchers at the Penn FTD Center found that Black individuals with FTD have greater disease severity and more impairment with daily activities. However, as a relatively rare disease, the impact of differing socioeconomic backgrounds in clinical symptoms and outcomes in patients with bvFTD remains understudied.  

The Area Deprivation Index is a ranking of the level of disadvantage in a given area relative to the wider nation. The measurement is calculated from census data and accounts for 17 socioeconomic variables, covering the domains of education, employment, housing-quality, and poverty. A higher ADI score indicates living in an area of higher disadvantage. 

This week, researchers and clinicians from around the world convened in Philadelphia for the 2024 Alzheimer’s Association International Conference (AAIC) to discuss recent advances in Alzheimer’s disease and related dementias. Check out:

📰 Big news in Alzheimer’s space: Research breakthroughs presented at AAIC

📌 Penn at AAIC: Panel discussions, posters, and talks

🌍 From around the world: Global perspectives on Alzheimer’s research

🌐 In the news: Media coverage of AAIC

By Meghan McCarthy  

Editor’s note: This article is part of an ongoing coverage of the 2024 Alzheimer’s Association’s International Conference (AAIC). To view all highlights, please click here.   

Each morning, Sarah wakes up early, makes a pot of coffee, and turns on the news. The ritual had been a part of her routine for decades. In their retirement years, Sarah’s partner, Jodi, slept in a little later but always joined Sarah eventually. Together, the two sip their coffee and watch the stories of triumph and tragedy alike on their morning station.  

Sarah doesn’t remember exactly when a change in Jodi started. Watching together, the pair used to get quite moved by the morning highlights. Now, Jodi remains mostly unaffected. It’s a subtle change, but one that Sarah noted after becoming particularly emotional one morning. Not only was Jodi very uninterested in the story, but also unconcerned about her partner’s emotion.  

As time passed, Jodi’s withdrawn personality became more noticeable. In social settings, Jodi began acting without regard for social norms. She lacked an interest in others’ emotions. Jodi was not aware of these changes. As a loving partner, Sarah began to worry. Together for decades, it was clear to her that Jodi’s empathetic and caring nature was being replaced with a different personality.  

After seeing several clinicians, Jodi was eventually diagnosed with behavioral-variant frontotemporal dementia (bvFTD).  

Empathy loss is a hallmark symptom of this form of dementia.