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Deep Mutational Scanning of Monogenic Diabetes Genes to Facilitate Precision Diagnostics for Diabetes
PROJECT SUMMARY/ABSTRACT Diabetes is a global health challenge and affects around 463 million people worldwide. For up to 5% of these individuals their diabetes is due to a defect...
Assessment of the Complement Pathway in a RPE/choroid Tissue Chip
The initiators and/or drivers of Age-related Macular Degeneration (AMD) remain elusive. Current knowledge suggests that interventions in late disease stages may not be as effective...
Deep learning enhanced detection and personalized monitoring of aortic stenosis - The DETECT-AS Study
PROJECT SUMMARY This is a new application by an early-stage investigator with a long-term career objective of transforming cardiovascular care using artificial intelligence and dat...
Long-term Trajectory of SSRI-Induced Height Growth Suppression
PROJECT SUMMARY Adolescence is most strikingly characterized by the pubertal growth spurt. It is also a time when the prevalence of depressive and anxiety disorders increases drama...
An Integrative Computational Multimodal approach to disentangle Pathophysiologic Heterogeneity of age-related White Matter Hyperintensities
ABSTRACT White matter hyperintensities (WMH) are an important factor in the occurrence and progression of stroke, cognitive decline, and dementia in the aging population, but pose...
Deprescribing Decision-Making using Machine Learning Individualized Treatment Rules to Improve CNS Polypharmacy
ABSTRACT Central Nervous System (CNS) polypharmacy is a cumulative exposure to 3 or more medications with CNS-acting properties. CNS medications include anticholinergics, antidepre...
Enhancing Glaucoma Risk Prediction through Advanced Genomics and Machine Learning
Project Summary/Abstract Glaucoma is a multifactorial disease affecting millions worldwide, leading to substantial visual impairment and blindness. The lack of reliable tools to pr...
The effect of childhood environments on adult health and mortality
Project Abstract Early life conditions shape later life health outcomes such as mortality. However, it is not known which early conditions really matter and why. And are these cond...
Linking the molecular operations of cohesin to its physiological activity in the mammalian brain
PROJECT SUMMARY Mammalian genomes are organized into loops and topologically associated domains by the cohesin protein complex. The formation of these structures has suggested mode...
Thyroid Hormone Action in Alzheimer's Disease and Related Dementias
Abstract: Thyroid hormone is among the most common prescriptions in the United States. Up to 20% of those on therapy are on doses which suppress the normal pituitary feedback syste...
Genetic architecture of tissue factor expression
Project Summary/Abstract Tissue factor (TF) is the primary initiator of blood coagulation. The expression of TF from the F3 locus must be intricately regulated in a cell type-speci...
Brain Age in Aphasia
Abstract Post-stroke chronic aphasia is a prevalent language processing problem commonly associated with significantly reduced quality of life. Unfortunately, our knowledge of the...
Post-Acute Care Medication Use and Functional Recovery in Heart Failure
PROJECT SUMMARY Many older adults who are hospitalized for heart failure (HF) lose their ability to independently perform activities of daily living and then require long-term cust...
Mechanisms of HIV-associated Hypertension
PROJECT SUMMARY Over the last few decades, the advent of combination antiretroviral therapy has led to a profound suppression of HIV replication and dramatically increased life exp...
Function of Ruvbl1-Ruvbl2 in dynein arm assembly in motile ciliated epithelial cells
Motile cilia beat rhythmically to propel cell movement or drive extracellular fluid flow. The functional importance of cilia motility in human health is highlighted by primary cili...
Role of Interphotoreceptor Matrix Proteoglycans in Retinal Homeostasis and Retinitis Pigmentosa
Abstract: The extracellular matrix (ECM) plays a pivotal role in the structural integrity and biochemical functioning of neuronal tissues. Within the retina, a specific ECM known a...
Harnessing digital health and equity informed multi-level implementation strategies to promote uptake of depression treatment in cancer settings: iCan DepCare
Cancer patients with elevated depressive symptoms have higher rates of cancer mortality, recurrence, diminished quality of life (QoL), healthcare expenditure, and chemotherapy nona...
Identifying mechanisms of neurofilament regulation and turnover in amyotrophic lateral sclerosis
Program Summary Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterized by loss of motor neurons that leads to weakness, respiratory failure,...
The Role of Oculomotor Proprioception in the Establishment of Long-Term Visuospatial Memory
Abstract You can point the door of the room with your eyes closed. Patients with certain brain lesions cannot, although they can point to it if they can see it. Establishing a spat...
Biobank phenotyping tools for improved understanding and management of eye diseases and disparities
PROJECT SUMMARY One of the areas of emphasis on the National Eye Institute's (NEI) strategic plan is to bridge the gap between genomics and mechanisms of disease. Vast clinica...