2018 Grants Funded Yearbook

2018 Pilot Grant Recipients

Basic Science Pilot Grant

“A C. elegans model to study the disease-producing effects of dipeptide repeats from the C9ORF72 locus”
Paschalis Kratsios, PhD
University of Chicago

Funding period: January 1, 2019 – December 31, 2019
Amount: $60,000
Project description: A mutation in the gene C9ORF72 is the most common cause of familial FTD and ALS. The mutation is an unusual one because it involves the repetition of a DNA sequence that results in the production of abnormal proteins known as dipeptide repeats (DPRs). Although DPRs are thought to play a key role in the disease process, it remains unclear how they trigger FTD and ALS pathology. In this project, Dr. Kratsios will try to better understand the factors that control the generation of DPRs, using a novel animal model: transgenic worms (Caenorhabditis elegans) carrying the C9ORF72 mutation. If successful, this research could identify new targets for drug development and support the use of C. elegans as a model organism in FTD research.

Susan Marcus Memorial Fund Pilot Grant for Clinical Research

“Identification of Target Genes Regulated by TDP-43 in Human FTD Brains”
Liam Chen, MD, PhD
Johns Hopkins University

Funding period: January 1, 2019 – December 31, 2019
Amount: $60,000
Project Description: During the processing of mRNA, segments needed for protein synthesis, known as exons, are spliced together following the removal of the intervening segments. One of the important roles of TDP-43 is to prevent the accidental inclusion of the deleted fragments. This protective function of TDP-43 is lost in FTD; as a consequence, these fragments, known as cryptic exons, remain in the final mRNA template – an error linked to neurodegeneration. Dr. Chen will seek to identify FTD-associated cryptic exons in post-mortem brain tissue from persons with FTD caused by mutation of the C9ORF72 gene. FTD-specific cryptic exons could potentially serve as biomarkers or as starting points for new treatments.

Nonpharmacological Therapies and Tools Pilot Grant

“Development of a goal-directed behavior app: Changing apathy into action in frontotemporal degeneration”
Lauren Massimo, PhD, CRNP
University of Pennsylvania School of Nursing

Funding period: July 1, 2018 – June 30, 2019
Amount: $60,000
Project Description: Apathy, one of the most disabling symptoms in bvFTD, is estimated to occur in over 90% of people with this diagnosis and contributes significantly to caregiver burden. Dr. Massimo’s project will focus on the development of a novel intervention for apathy: a mobile app designed to increase motivation, promote self-care as well as other common daily activities, and support planning and carrying out these activities. The app will allow each patient-caregiver team to select personally meaningful goals for improvement, then engage and support the individual with FTD in working toward attaining these goals through the use of alerts prompting them to initiate activities, tools like calendars and checklists to assist them in planning, and a system of rewards to provide motivation. Dr. Massimo will conduct a 3-month pilot study of the app to evaluate its effectiveness in reducing apathy; improving activity levels, psychological functioning, cognition, and quality of life; and relieving caregiver burden.

2018 FTD Biomarkers Initiative Grant Recipients

“Individualized clinical and MRI endpoints for clinical trials in frontotemporal lobar degeneration, a pilot study”
Adam Boxer, MD, PhD and Howie Rosen, MD
University of California San Francisco

Funding period: June 1, 2018 – May 31, 2020
Amount: $249,965