Head, Elizabeth PHD

This new R25 program, responsive to PAR-22-195, plays a crucial role in the INCLUDE project (Investigation of Co-occurring conditions across the Lifespan to Understand Down syndromE). Each year, we recruit,train, mentor, and provide career advice to a cohort of 16 post-graduate participants dedicated to mastering Down syndrome (DS) clinical research. Despite the swift growth of INCLUDE, there are still too few laboratories led by Down syndrome expert scientists and too few new clinical trainees with expertise in Down Syndrome. In full compliance with NOT-OD-25-090 (Notice of Civil Rights Term and Condition of Award), this program is available for all qualified American Citizens and Permanent Residents. Under the direction of multiple Principal Investigators, Ann Cohen, PhD (Pitt); Benjamin Handen, PhD (Pitt); Elizabeth Head, PhD (Irvine); Adam Resnick, MD, PhD (CHOP); Jonathan Santoro, MD (USC-Keck); and Gerald Schatten, PhD (Contact PI, Pitt), with Co-Investigator Calvin Simerly, PhD (Pitt), the ICRT initiative proposes five specific aims: I. Annual ICRT courses covering DS through the entire lifespan; II. Ongoing Mentoring; III. Fostering Intra-INCLUDE Collaborations and Partnerships; IV. Responsible Conduct for Research training to ensure full compliance with NIH and Institutional guidance, regulations and law; and V. Quantitative Independent Evaluations to track Participants’ Careers, comprehensively and longitudinally, to ensure that ICRT is a wise, effective investment. ICRT will meet and exceed the PAR’s mandate of training the next generation of DS clinical researchers, 80 additional clinical investigators, and thereby improving the quality of life and health span of those with Down syndrome.

As the most common genetic developmental disorder that leads to intellectual disability, people with Down syndrome have several health challenges that impact their quality of life. This application requests funding to cover travel expenses of American-based junior investigators, postdoctoral fellows and graduate students to attend the Fifth International conference of the Trisomy 21 Research Society (T21RS). This conference will lead to fruitful discussions and novel collaborations that are essential to define the future of DS research. The theme of our meeting will be Promoting Research Experience in Down syndrome.

Alzheimer's disease (AD) is a major public health crisis for our aging population. People with Down Syndrome (DS) are at high risk for AD and because of their unique biology and provide an unparalleled opportunity to develop biomarkers of preclinical AD. Reliable biomarkers of preclinical AD will enable new options for intervention and promote health for people with DS and in the general population.

People with Down syndrome display increased risk of developing diverse co-occurring conditions, but the mechanisms driving this unique clinical profile are yet to be defined. This project will develop a biobanking research infrastructure that could support a wide range of investigations by a multidisciplinary team of researchers through the collection of diverse biospecimens using harmonized protocols. These activities will greatly accelerate the pace of discoveries benefiting persons with Down syndrome.

This project will examine neuroimaging, blood-based, and neuropathological markers of the vascular contributions to cognitive impairment and Alzheimer's disease (AD) in adults with Down syndrome (DS). Adults with DS are living much longer than previously, but virtually all develop the pathology and symptoms of AD by late adulthood. By examining the cerebrovascular component of AD and cognitive decline in adults with DS, this study will identify potential targets to mitigate the emerging public health crisis in this population and inform similar interventions in the neurotypical population.

As the most common genetic developmental disorder that leads to intellectual disability, people with Down syndrome have several health challenges that impact their quality of life. This application requests funding to cover travel expenses of American-based junior investigators, postdoctoral fellows and graduate students to attend the Fourth International conference of the Trisomy 21 Research Society (T21RS). This conference will lead to fruitful discussions and novel collaborations that are essential to define the future of DS research. The theme of our meeting will be Imagine, Discover, Inspire.

Alzheimer’s disease (AD) is a major public health crisis for our aging population. People with Down Syndrome (DS) are at high risk for AD and because of their unique biology and provide an unparalleled opportunity to develop biomarkers of preclinical AD. This proposed pilot project will focus on parents of adults with DS, allowing us to address important questions related to the potential impact of a range of genetic factors on both maternal AD risk and AD risk to their DS offspring.

Alzheimer's disease (AD) is a major public health crisis for our aging population. People with Down Syndrome (DS) are at high risk for AD and because of their unique biology and provide an unparalleled opportunity to develop biomarkers of preclinical AD. Reliable biomarkers of preclinical AD will enable new options for intervention and promote health for people with DS and in the general population.

– no change from original: Alzheimer’s disease (AD) is a major public health crisis for our aging population. People with Down Syndrome (DS) are at high risk for AD and because of their unique biology and provide an unparalleled opportunity to develop biomarkers of preclinical AD. Reliable biomarkers of preclinical AD will enable new options for intervention and promote health for people with DS and in the general population.

Alzheimer's disease (AD) is a major public health crisis for our aging population. People with Down Syndrome (DS) are at high risk for AD and because of their unique biology and provide an unparalleled opportunity to develop biomarkers of preclinical AD. Reliable biomarkers of preclinical AD will enable new options for intervention and promote health for people with DS and in the general population.

The proposed study will use gait identify early clinical signs of dementia reflecting Alzheimer disease (AD) in adults with Down syndrome (DS). Using magnetic resonance imaging and the GAITRite system to quantitatively measure gait, we will identify whether matter integrity losses are associated with gait and whether those regions are associated with early dementia symptoms. Identifying dementia earlier and resilience indicators provides opportunities to better track the progression of AD in DS and develop targeted interventions to improve the quality of life of DS individuals who are vulnerable to neurodegeneration.