Joshua T. Geiger
A5073849518- Aortic aneurysm repair treatments
- Cardiac, Anesthesia and Surgical Outcomes
- Abdominal vascular conditions and treatments
- Neurological diseases and metabolism
- Amyotrophic Lateral Sclerosis Research
- Aortic Disease and Treatment Approaches
- Genomics and Rare Diseases
- Cerebrovascular and Carotid Artery Diseases
- Cardiovascular Health and Disease Prevention
- Infectious Aortic and Vascular Conditions
- Mitochondrial Function and Pathology
- Parkinson's Disease Mechanisms and Treatments
- Vascular anomalies and interventions
- Peripheral Artery Disease Management
- Venous Thromboembolism Diagnosis and Management
- Congenital heart defects research
- Intracranial Aneurysms: Treatment and Complications
- Liver Disease and Transplantation
- Abdominal Surgery and Complications
- Diversity and Career in Medicine
- Alzheimer's disease research and treatments
- Renal and Vascular Pathologies
- Biliary and Gastrointestinal Fistulas
- Genetic Neurodegenerative Diseases
- Global Health Workforce Issues
University of Rochester Medical Center
2019-2025
University of Rochester
2023-2024
Gift of Life Michigan
2023
National Institute of Neurological Disorders and Stroke
2016-2021
National Institutes of Health
2016-2018
Government of the United States of America
2018
Centre de recherche en Epidémiologie et Santé des Populations
2017
Abstract Although amyotrophic lateral sclerosis (ALS) is relatively rare, the socioeconomic significance of disease extensive. It therefore vital to project epidemiologic trend ALS. To date, there have been few published studies attempting estimate number and distribution ALS cases in upcoming years. Here we show that across globe will increase from 222,801 2015 376,674 2040, representing an 69%. This predominantly due ageing population, particularly among developing nations. projection...
The developing mammalian heart undergoes an important metabolic shift from glycolysis towards mitochondrial oxidation that is critical to support the increasing energetic demands of maturing heart. Here, we describe a new mechanistic link between mitochondria and cardiac morphogenesis, uncovered by studying citrate carrier (SLC25A1) knockout mice. Slc25a1 null embryos displayed impaired growth, dysfunction malformations recapitulate congenital defects observed in 22q11.2 deletion syndrome,...
Abstract Background Studies have demonstrated the impact of SDOH on outcomes following vascular surgery, but few focused risk factors for infectious complications major amputation. Odds Ratios (Confidence Intervals) Infectious Outcomes Based Social Determinants Health Methods Local data Society Vascular Surgery Quality Initiative, a multicenter registry quality improvement, were queried demographics, clinical, procedure, and 371 patients with amputation as index procedure 6/1/2015 to...
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, performed rare variant burden analysis 1,138 index familial 19,494 Through both approaches, identified kinesin family member 5A (KIF5A) as gene ALS. Interestingly, mutations predominantly in the N-terminal motor domain KIF5A are causative for neurodegenerative diseases, hereditary spastic paraplegia...
Endovenous thermal ablation (EVTA) is a prevalent treatment option for patients with severe venous disease. However, the decision to intervene less disease (CEAP [clinical, etiology, anatomy, pathophysiology] C2 and C3) clear becomes further complicated obesity, pathology known increase symptom severity. Therefore, objective of this study was use Society Vascular Surgery Quality Initiative database evaluate outcomes after EVTA in obese CEAP C3 insufficiency.
<b><i>Background:</i></b> Dementia with Lewy bodies (DLB) is the second most common neurodegenerative dementia affecting elderly. The GGGGCC hexanucleotide expansion mutation at <i>C9orf72</i> locus has been identified as a major cause of amyotrophic lateral sclerosis and frontotemporal dementia, raising question whether this factor in DLB. Furthermore, small number clinically diagnosed DLB patients have previously reported to carry pathologic...
The developing mammalian heart undergoes an important metabolic shift from glycolysis toward mitochondrial oxidation, such that oxidative phosphorylation defects may present with cardiac abnormalities. Here, we describe a new mechanistic link between mitochondria and morphogenesis, uncovered by studying mice systemic loss of the citrate carrier SLC25A1. Slc25a1 null embryos displayed impaired growth, malformations, aberrant function. Importantly, heterozygous embryos, which are overtly...
Tubulin mutations are a cause of neuronal migrational disorders referred to as tubulinopathies. Mutations in tubulin genes can have severe impact on microtubule function and result heterogeneous clinical presentations. Current understanding the spectrum tubulinopathies is predominantly based research fetal tissue early-childhood cases.Testing candidate followed by whole-exome sequencing was performed an adult woman with neurodevelopmental, hyperkinetic movement disorder, identify underlying...
Abstract The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts LBD cases and neurologically healthy controls to study the architecture this understudied form generate a resource for scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations gene GBA . Genetic scores demonstrate that shares profiles pathways with...