NY-DM: Advancing knowledge and practices for myotonic dystrophy (Albany)
The New York Myotonic Dystrophy Center serves as a research and training hub for scientific discovery, clinical progress, and therapeutic development on the leading cause of adult-onset muscular dystrophy – myotonic dystrophy (DM). The Center is built around the regional expertise of The RNA Institute at the University at Albany, SUNY (UAlbany) and the University of Rochester Medical Center (URMC). The Center’s will provide resources for building interdisciplinary research, training, and leadership into the biology, clinical, health, and policy implications of myotonic dystrophy. This proposal will supports research efforts focused on understanding the changes to the molecular mechanisms behind myotonic dystrophy that parallel patient disease progression and heterogeneity. This project will focus on: (1) better understanding changes to the molecular disease complexity of myotonic dystrophy through characterization of the transcriptomic heterogeneity of DM across different muscle type, time and cellular landscape; and (2) developing artificial intelligence enhanced transcriptomic analysis tools for myotonic dystrophy to dissect the molecular and disease complexity of DM. This project will advance our understanding of fundamental aspects of disease pathogenesis and heterogeneity in myotonic dystrophy while leveraging these findings to identify molecular outcomes that can serve as much needed molecular biomarkers of disease for future clinical and therapeutic applications.
Digital Object Identifier (DOI)
Grantee: Andrew Berglund Ph.D.
Grant type: Restricted Research Grant
Award total: $112,666.00
Institution: Research Foundation of SUNY - University at Albany
Country: USA
Clinical Research in ALS: CRiALS
There is an enormous need for a better understanding of the clinical, demographic, and genetic features that underlie the phenotypic variability of ALS. Indeed, it may be more accurate to define ALS as a “syndrome” defined by the commonality of clinical features and progression. The syndrome of ALS may encompass a number disease mechanisms that will require different approaches for therapeutic intervention, and one could hypothesize that our failures in clinical trials for ALS are due to the inclusion of multiple disease types, some of which are not responsive to the experimental drug under investigation. Thus, we need to better understand whether multiple mechanisms of ALS truly exist, and to do that we need to better define the disease by documenting phenotypes along with genetic, serologic, and physiological features of disease. This improved categorization of disease will result in the definition of specific disease features that will allow for clinical trials targeting specific disease mechanisms. The CRiALS project, supported by MDA funding, has generated a world-class clinical database and biobank for use locally, nationally, and internationally for discovery research focused on better defining the mechanisms of ALS, which will lead to drug targets and directed therapeutics.
Digital Object Identifier (DOI)
Grantee: Jonathan Glass M.D.
Grant type: Restricted Research Grant
Award total: $130,966
Institution: Emory University
Country: USA
Advanced analysis of remote assessments
The New York Myotonic Dystrophy Center focuses on research, training, and treatment development for myotonic dystrophy (DM), the leading cause of adult-onset muscular dystrophy. It leverages the expertise of The RNA Institute at UAlbany and the University of Rochester Medical Center. The Center supports interdisciplinary research and training in the biology, clinical care, and policy aspects of DM. This proposal aims to improve remote clinical assessments for DM1 by developing AI tools to automate movement tests and analyze gait patterns. The goal is to enhance disease monitoring and prepare for evaluation of treatment effects from patients' homes.
Digital Object Identifier (DOI)
Grantee: Johannna Hamel M.D.
Grant type: Restricted Research Grant
Award total: $92,181.00
Institution: University of Rochester
Country: USA
Molecular and cellular mechanisms of cardiac fibrosis in Friedreich ataxia
"Friedreich ataxia (FA) is a genetic disease that frequently results in serious cardiac complications, primarily due to myocardial fibrosis, a form of heart muscle damage due to inflammation and scarring. In FA, the deficiency of a key mitochondrial protein called frataxin leads to swelling and eventual death of cardiomyocytes, which are heart muscle cells. This cell loss triggers inflammation and activates fibrotic pathways, resulting in the buildup of stiff scar tissue that impairs the heart's ability to fill and pump blood effectively. As fibrosis progresses, it contributes to heart failure and atrial arrhythmias that contribute to morbidity. Although imaging and post-mortem studies have revealed these structural changes in the heart, it remains unclear whether atrial arrhythmias are directly caused by the fibrosis or are secondary to changes happening in other chambers of the heart.
This research project seeks to better understand the mechanisms underlying cardiac fibrosis in FA, with a particular focus on identifying the specific cell types, such as cardiac fibroblasts, that drive the response. Using mouse models of FA, the study investigates the molecular signaling pathways that activate fibroblasts and will dissect both the damaging and compensatory molecular signals involved in FA-related cardiomyopathy. Through these studies, the researchers aim to uncover novel therapeutic targets that could mitigate or prevent cardiac dysfunction in individuals with FA."
(Co-funded with Friedreich's Ataxia Research Alliance)
Grantee: Giovanni Manfredi M.D., Ph.D.
Grant type: Restricted Research Grant
Award total: $150,879.00
Institution:
Country: USA
MDA Resource Center: We’re Here For You
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