Genetics of Aging-Related Neurodegeneration: The Sylvan M. Cohen Annual Retreat & Poster Session 2017

077On Tuesday, May 23, 2017, the Institute on Aging (IOA) hosted their annual Sylvan M. Cohen Retreat and Poster Session in collaboration with co-sponsors, the Penn Neurodegeneration Genomics Center (PNGC).

The 2017 retreat focused on the ‘Genetics of Aging-related Neurodegeneration’ and for the second year in a row, it began with opening remarks from the Dean of the Perelman School of Medicine, J. Larry Jameson, MD, PhD. “I’m mainly here to thank you for your scientific collaboration,” said Dean Jameson. He used this time to express the importance and impact of these contributions in the field of genetics and aging, especially in trying to solve the puzzle of very complex conditions such as neurodegeneration.

Lectures were presented by Penn’s Gerard (Jerry) D. Schellenberg, PhD, Director of the PNGC, Adam Naj, PhD, Assistant professor of Epidemiology in Biostatistics and Epidemiology, and Nancy Zhang, PhD, Assistant professor of Statistics, as well as this year’s keynote speaker, Philip De Jager, MD, PhD, Associate Neurologist at Brigham and Women’s Hospital and Associate Professor of Neurology at Harvard Medical School.

Lectures:

  • “Alzheimer’s Disease Genetics; Progress in Gene Therapy” – Jerry Schellenberg, PhD
  • “Genetic Risk Factors Associated with Coincident Alzheimer’s and Parkinson Disease in Neuropathologically Confirmed Cases” – Adam Naj, PhD
  • “Structural Variant Profiling in Alzheimer’s Disease Genetics” – Nancy Zhang, PhD
  • “The molecular network map of the aging cortex: v1.0: an integrative approach targets the epigenomic and inflammatory components of Tau pathology” – Philip De Jager, MD, PhD

As usual, the event concluded with the annual poster session on aging. Prizes were awarded to the top posters in each of the following categories: Basic Science and Clinical Research/Education & Community.

Poster Winners:

BASIC SCIENCE:

1st Place:

172Title: “Integrative analysis identifies immune-related enhancers and IncRNAs perturbed by genetic variants associated with Alzheimer’s disease”
Presenter: Alexandre Amlie-Wolf
Authors: Alexandre Amlie-Wolf, Mitchell Tang, Jessica King, Beth Dombroski, Elizabeth Mlynarski,Yi-Fan Chou, Gerard D. Schellenberg, Li-San Wang
Affiliation(s): University of Pennsylvania, Genomics and Computational Biology Graduate Group

2nd Place:

173Title: “Differential Vulnerability to a-synuclein Pathology Among Neuronal Subpopulations”
Presenter: Luna Esteban
Authors: Luna Esteban, Dawn M. Riddle, Virginia M.Y. Lee, Kelvin C. Luk
Affiliation(s): Center for Neurodegenerative Disease Research

 


Clinical Research/Education & Community

1st Place:

175Title: “Correlates of Sleep Indices Among Community Dwelling Older Adults Enrolled in a Collaborative Care Management Program”
Presenter: Ashik Ansar
Authors: Ashik Ansar, MD, PhD, Shahrzad Mavandadi, PhD, Kristin Foust, Suzanne DiFilippo, RN, Joel E.. Streim, MD, David W. Oslin, MD
Affiliation(s): Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania

2nd Place:

176Title: “The Impact of Cognitive Reserve and Brain Atrophy on Survival in Neurodegenerative Diseases”
Presenter: Carrie Caswell
Authors: Carrie Caswell, MS (1), Sharon X. Xie, PhD (1), Murray Grossman, MD, EdD (1), Corey T. McMillan, PhD (1), Lauren M. Massimo, PhD, CRNP (1,2)
Affiliation(s): (1) University of Pennsylvania, (2) Penn State University

To view the full lectures from the 2017 Sylvan M. Cohen Annual Retreat, click here.

To view more photos from the 2017 Sylvan M. Cohen Annual Retreat, click here.

 

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“Through the Eyes of the Caregiver: Frontotemporal Degeneration (FTD) and the Penn FTD Center” premieres at the Penn FTD Center Caregiver Conference 2017

On Friday, May 12, 2017, the Penn Frontotemporal Degeneration (FTD) Center hosted its 9th annual Penn FTD Caregivers Conference at the University of Pennsylvania. The day-long conference held at the Smilow Center for Translational Research welcomed 150 attendees and consisted of a series of lectures that covered information around the latest scientific advances in research on FTD and its related disorders, such as Amyotrophic lateral sclerosis (ALS) also known as Lou Gehrig’s Disease and Corticobasal degeneration (CBD), as well as practical caregiving issues such as strategies for symptom management, understanding the genetics of FTD and genetic testing options, respite and supportive resources for caregivers, and legal and long-term care planning.

One of the highlights of this year’s conference was the premiere of “Through the Eyes of the Caregiver: Frontotemporal Degeneration (FTD) and the Penn FTD Center,” a short film sharing the stories of three caregivers whose loved ones are patients at the Penn FTD Center.

“The brunt of this disease falls solely on those closest to the individual with the disease unfortunately and it is very difficult to navigate the healthcare system and obtain the types of resources that give structure to a patient’s day-to-day life and to help a caregiver keep a patient safe and cognitively stimulated,” said David Irwin, MD, assistant professor and Cognitive Neurologist in the Penn FTD Center. The goal of this video is to show caregivers and family members of those with FTD that they are not alone in this life-altering process and that there are many support groups and community and medical resources available to them – including many at the Penn FTD Center – to help them every step of the way.

Watch “Through the Eyes of the Caregiver: Frontotemporal Degeneration (FTD) and the Penn FTD Center”*:

Two Penn FTD Caregivers Conference sponsors, the Alzheimer’s Association Delaware Valley Chapter and the Association for Frontotemporal Degeneration (AFTD), were also in attendance to answer questions and present information on the many advocacy and community resources that they offer for patients with FTD or related disorders and their families and caregivers.

Learn more about the Penn FTD Center at: https://ftd.med.upenn.edu

* Learn more about each individual caregiver by watching their full story! Click the “i” icon bubble in the top right hand corner of the video for a drop down menu with links to each caregivers story! If you are watching on a mobile phone, click the title of the video which will open a drop down menu containing the links to each caregiver’s story as well as a link to the Virtual Tour of Penn’s FTD PPG and Penn FTD Center to learn more about the FTD research and care taking place at Penn.

Eliezer Masliah, MD, Director of NIA’s Division of Neuroscience visits Penn

EliezerMasliah_Flyer5217On Tuesday, May 2, 2017, Eliezer Masliah, MD*, Director of the National Institute on Aging’s (NIA) Division of Neuroscience, paid a visit to the University of Pennsylvania’s Institute on Aging (IOA), Center for Neurodegenerative Disease Research (CNDR), and Penn Neurodegeneration Genomics Center (PNGC).

The reason for Dr. Masliah’s visit was not just to learn about the neurodegenerative disease and aging-related research that is taking place in these centers here at Penn, but also to see how they all collaborate and work toward mutual goals. This gave him the opportunity to see firsthand how NIA and National Institutes of Health (NIH) funding is being used and made worthwhile to support the groundbreaking work of these centers.

Several topics were covered during the visit including the inception and mission of the new Penn Neurodegeneration Genomics Center (PNGC), directed by Gerard D. Schellenberg, PhD, and its five NIH-funded projects, the Alzheimer’s Disease Genetics Consortium (ADGC), Alzheimer’s Disease Sequencing Project (ADSP), Consortium for Alzheimer’s Sequence Analysis (CASA), Center for Genetics and Genomics of Alzheimer’s Disease (CGAD), and the NIA Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS). Dr. Schellenberg and other PNGC members, including co-director Li-San Wang, PhD, associate professor of Pathology and Laboratory Medicine and principal investigator of NIAGADS, presented some of the current work and future plans for PNGC to achieve their overarching goal to “completely resolve the genetics of Alzheimer’s disease.”

After the morning session, Dr. Masliah joined John Q. Trojanowski, MD, PhD, Director of the IOA, and Virginia M.-Y. Lee, PhD, Director of CNDR, with several of their lab members as well as several Penn faculty working in neurodegeneration, for an open discussion on the multidisciplinary approach of the IOA and CNDR. A key feature of these centers is their ability to collaborate across many different disciplines within the University of Pennsylvania’s Perelman School of Medicine. This includes faculty members from several different departments such as Pathology and Laboratory Medicine, Neurology, Psychiatry, Geriatric Medicine, and Epidemiology to name a few.

Among the many topics discussed, one that was of particular interest to Dr. Masliah was the large number of young investigators and finding out what it was that attracted them to Penn. Many of the lab members were eager to participate and to share their outlook on why Penn was the right place to start their research career. Overall, they agreed that the collaborative, multidisciplinary nature of these centers is what appealed to them most. They also praised Penn for its training and the encouraging environment that it provides for applying for research grants and other funding opportunities. Additionally, Penn is well known for its state of the art databases and data sharing, providing top-notch integration and access to resources for its investigators. Dr. Masliah was especially impressed with CNDR’s Integrative Neurodegenerative Disease Database (INDD) which tracks nearly 17,000 patients and/or research subjects at Penn’s several neurodegenerative disease related centers.

The visit concluded with a lecture by Dr. Masliah, titled “Advancing the National Plan to Address AD through National and International Collaborations.” During his talk, Dr. Masliah discussed the recent $2 billion NIH budget increase which includes $400 million new Alzheimer’s disease funds, new NINDS funding opportunities in partnership with NIA on Lewy body dementia (LDB), and the 17 new Alzheimer’s disease FOA’s.

In terms of what to expect for the future, Dr. Masliah says to stay tuned for changes in pay-lines for FY17, more funding for fellowship and K awards, and more funded FOA’s and 27 new FOA’s.


* In his position as the Director of the NIA’s Division of Neuroscience, Dr. Masliah oversees the world’s largest research program on Alzheimer’s disease-related dementias and cognitive aging. He is an internationally renowned neuroscientist and neuropathologist and has approximately 800 original research articles and 70 book chapters. 

Unlocking the Mysteries of Delirium

What is delirium and how should we handle it?

EdwardMarcantonio_FlyerLast month, Edward Marcantonio, MD, MS, the IOA’s most recent visiting scholar and professor of Medicine at Harvard Medical School*, offered some answers to these questions during his lecture at the University of Pennsylvania.

In the 1980’s, as he was just beginning his career in the medical field, Dr. Marcantonio was taught that it was essentially “normal” for older people to go a little crazy – or “bonkers” as he calls it – during their hospital stay. The belief was that there really was not much that could be done about it, but if the symptoms became overly bothersome, prescription medications such as haloperidol or diazepam — drugs commonly used for mental or psychiatric disorders — would “take care of it.”

Today, while we are much better at recognizing what delirium actually is – and understanding that it is not “normal” – there is still some confusion across disciplines in the terminology used to identify this condition. Delirium is often referred to as acute confusional state, altered mental status, subacute befuddlement, or postoperative psychosis.

Regardless of what term is used, the diagnosis of delirium, or any of the other aforementioned names, is characterized by confusion, restlessness, and a disturbance in attention and awareness that develops acutely and tends to fluctuate. Delirium is typically referred to as one of two types—prevalent delirium or incident delirium. Prevalent delirium is when the condition is present and observed at the time of hospital admission and incident delirium develops during the hospital stay.

Delirium is even more common than most people realize. According to Dr. Marcantonio, it is experienced in 30-40% of medical inpatients over 70 years old, 15-50% of surgery patients over 70 years old, and at least 75-80% of intensive care unit patients over 18 years old.

In his line of research, Dr. Marcantonio focuses on two main aims: 1) improving delirium identification at the bedside and 2) understanding the pathophysiology of delirium and its association with dementia.

Improving delirium identification at the bedside

Because symptoms of delirium can come and go and vary in severity, identifying it can be quite a challenge. “When I got started in the field there were a number of studies that sent research teams out doing gold standard delirium assessments and then compared that to what was diagnosed in clinical care and it turned out that less than 50% of cases were recognized,” said Dr. Marcantonio.

In the 1990’s, the Confusion Assessment Method (CAM) was developed to help detect delirium in patients. The CAM looks at four key features: 1) acute change/fluctuating course, 2) inattention, 3) disorganized thinking, and 4) altered level of consciousness. In order to officially diagnose delirium according to the CAM diagnostic algorithm, the patient must be experiencing both features 1 and 2, in addition to either 3 or 4. While recognizing these features as signs of delirium can produce a successful diagnosis, there still needed to be a standardized way to identify these features in the patients. With this in mind, Dr. Marcantonio developed a series of methods and assessments for detecting delirium – some taking as little as 30 seconds to administer.

Learn more about these assessments in Dr. Marcantonio’s full lecture starting at 0:20:28:
Full lecture

Understanding the pathophysiology of delirium and its association with dementia

Although a variety of situations, such as dehydration, visual or hearing impairment, immobility, and sleep deprivation, can increase the chances of developing delirium, current research suggests that one of the strongest risk factors – aside from aging – is dementia.

One emerging hypothesis is that delirium may represent a state of neuroinflammation. It is believed that this neuroinflammation could be the link between delirium and dementia and if this theory is confirmed, it could have some very important therapeutic effects for both conditions.

Learn more about the link between dementia and delirium in Dr. Marcantonio’s full lecture starting at 0:40:05:
Full lecture

Although we have come a long way over the years to better understand delirium, there is still much work left to do. The ultimate goals are to establish effective and efficient assessments of delirium as a part of daily hospital vital sign checks and to develop pathophysiologically-based treatments to improve the short and long-term outcomes of this condition.

To view the full lecture, click here.

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* Dr. Marcantonio is also the Section Chief for Research in the Division of General Medicine and Primary Care at Beth Israel Deaconess Medical Center (BIDMC).

 

The Assumptions of Aging: Addressing the Myths and Stereotypes Associated with Getting Older

On Thursday, April 13, 2017, the Philadelphia Corporation for Aging (PCA)* held a daylong training course titled “Assumptions of Aging,” led by Kathy Jedrziewski, PhD, Deputy Director of the Institute on Aging (IOA) at the University of Pennsylvania.

The purpose of this training was to address and debunk some of the common myths and stereotypes that are often associated with the aging population. Participants in the course ranged from social work coordinators and senior counselors to service coordinators from PCA and other local senior service centers. While this goes for the general public as well, it is especially important for individuals in these lines of work to understand and differentiate between the truths of aging and the negative labels that often overshadow in the elderly community so that they can provide the level of service — and respect — that seniors need and deserve.

After an ice-breaker introductory exercise, the group took turns sharing some of the common aging-related stereotypes that they have heard or experienced themselves. Some of the most frequently mentioned ideas were:

  • Older people are not good with technology
  • Romance is only for the young
  • All older people are weak and sickly
  • Older people cannot maintain the same hobbies, activities, or social life that they had when they were younger
  • Older people with disabilities are helpless and useless

Debunking Some of the Myths:

  • Older people are not good with technology:
    One of the most common misconceptions about the aging community is that they do not know — or cannot learn — how to use technology. While it may take older individuals a bit longer than the younger generation (a generation who has grown up using, and often depending on, technology) to pick up on the latest devices, they are not incompetent or unable to do so. Many older adults actually enjoy learning the latest technology and internet trends as it provides a way to stay engaged and in touch with the ever evolving means for communicating and consuming information (i.e. social media). In fact, according to Pew Research Center, 56% of U.S. online users ages 65 and up use Facebook.
  • Older people cannot maintain the same hobbies, activities, or social life that they had when they were younger
    As people age, they often feel pressure from their peers, relatives, and even from themselves to re-evaluate and restrict their idea of what is “appropriate” for them. Whether it is a choice in clothing, a physical hobby such as sports or exercise, or even something as personal as dating or physical intimacy, older adults often think or hear that they are “too old for that.” However, if an individual is still physically and mentally capable, their age alone should never determine what they can or cannot do.
  • Older people with disabilities are helpless and useless
    One of the most important things to understand about an individual with a disability is that it does not define them as a person. It is a common myth that individuals, particularly seniors, with disabilities need to be completely catered to and treated as children, which in turn can strip them entirely of their sense of independence, and in some cases, their self-worth. It is important for family members, caregivers, and others to understand that as long as the individual is still cognitively and/or physically capable of doing something — whether it is making their own decisions or taking part in normal day-to-day activities — they should be given the opportunity, and respect, to do so.

Instead of addressing these ideas through a lecture or notes, the participants were put into groups and asked to act out a series of scenarios that were based on many of these common myths and stereotypes of aging. Each scenario was followed by an open discussion among all of the participants to share their thoughts and feelings on how each character handled, or mishandled, each situation. This method of role-playing put the participants into the scenarios in a more hands-on way — showing them the effects of these stereotypes in a much more personal and relatable manner.

“I love doing this training at PCA twice a year,” said Dr. Jedrziewski, leader of the training session. “It gives me a chance to meet staff from across the aging network who are doing such important work, impacting lives every day and hopefully I give them some tools to work with.”


* PCA is a private nonprofit organization serving the Philadelphia area with a broad range of services to help older Philadelphians live as independently as possible. In addition to providing training programs to individuals working in aging-related fields, they also offer serves such as advocacy programs, coordinating in-home care, legal assistance, and home-delivered meals. It is the largest of 52 Area Agencies on Aging in Pennsylvania and assists more than 134,000 individuals through its PCA Helpline each year. 

For more information on PCA and their services, visit: www.pcacares.org

CNDR Celebrates 25 Years of Groundbreaking Research

This year, Penn’s Center for Neurodegenerative Disease Research (CNDR) is celebrating 25 years of groundbreaking research.

Celebrating 25 Years

In honor of this milestone, Penn Medicine organized an intimate anniversary event generously hosted by longtime supporters and friends of CNDR, Bob Lane, who is also an Institute on Aging External Advisory Board (IOA EAB) member, and his wife, Randi Zemsky, at their home in the Rittenhouse Square section of Philadelphia.

The event celebrated the work of CNDR over the past 25 years and highlighted research breakthroughs still on the horizon. It was also an opportunity to bring together and thank many of the Center’s supporters. The event was attended by David B. Roth, MD, PhD, Chair of the Department of Pathology and Laboratory Medicine at the University of Pennsylvania, CNDR researchers, IOA EAB members, supporters of the Center and close friends of the hosts.

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The History

— from “A Conversation with Drs. Lee and Trojanowski,” an article by Lisa Bain featured in the CNDR 25th Anniversary special edition newsletter (page 3) — 

Some twenty-five years ago when John Q. Trojanowski, MD, PhD, first envisioned a Center for Neurodegenerative Disease Research (CNDR), Virginia M.-Y. Lee, PhD, MBA, saw only the additional paperwork that would be required. Since they were both already well established in the field, she thought, “what do we need a center for?” But he convinced her that branding and identifying CNDR as a common locus for studies of Alzheimer’s (AD) and Parkinson’s (PD) disease as well as Frontotemporal lobar degeneration (FTLD) and Amyotrophic lateral sclerosis (ALS) or Lou Gehrig’s disease was very important to pursue; and they both knew that the mission — to find cures for these neurodegenerative diseases — was not something that they alone could solve.

They would need a team, infrastructure, an environment that would be welcoming to a multidisciplinary group of collaborators (see Figure 1) and of course, funding. “And that is the dream for CNDR that has come true,” said Trojanowski.

screen-shot-2017-01-26-at-10-39-35-am

Get the full story of CNDR’s history, mission, research, and programs in the 25th Anniversary special edition newsletter here:

screen-shot-2017-01-23-at-3-59-20-pm

CNDR’s Annual Marian S. Ware Research Retreat Through the Years

Each year, CNDR hosts its annual Marian S. Ware Research Retreat to highlight any current or groundbreaking discoveries at CNDR and in the field of neurodegenerative disease research at large. Since the first event in 2000, CNDR has covered a variety of themes from genetics to training the next generation of scientists. Stay tuned for information on CNDR’s 2017 Research Retreat, but for now, take a look back at some of the topics covered in the past:

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You can also view an interactive timeline, including lists of past Retreat speakers, here!
(view in 3D mode for best experience)

Learn more about CNDR at: www.med.upenn.edu/cndr

 

 

Can postponing ill-health via comprehensive damage repair extend human lifespan indefinitely?

On Tuesday, December 6, 2016, the Institute on Aging (IOA) welcomed Aubrey de Grey, PhD, Chief Science Officer at the SENS Research Foundation, for a Visiting Scholars Series lecture on “Rejuvenation biotechnology: Postponing ill-health via comprehensive damage repair.”

The SENS Research Foundation is a public charity doing biomedical research with a focus on developing new medicines that may be more effective than current methods in postponing the ill health of old age.

“I do think that the general concept of eliminating damage that the body does to itself is something in which the sky is the limit,” said Dr. de Grey.

He compared this idea to the example of restoring vintage cars. He explained that since we are able to keep cars going essentially forever just by periodic and comprehensive preventative maintenance, we should be able to do the same thing for the human body, ultimately maintaining people in “truly youthful health indefinitely.”

While he does recognize that the human body is much more complex, Dr. de Grey believes that “the further we get in the process of developing methods for eliminating the various types of damage that the body does to itself, the more slowly we will accumulate damage because we will only be left with the residual damage that we haven’t yet worked out how to fix.”

Watch Dr. de Grey’s full lecture here!