Dawn A. Laney's research while affiliated with Emory University and other places
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Publications (29)
Background
Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. Over time, reductions in muscle strength result in respiratory failure and a loss of ambulation. Delayed diagnosis of LOPD deprives patients of treatments that can enhance quality of life and p...
Purpose
Fabry disease (FD) is a rare, X-linked, lysosomal storage disease characterized by great variability in clinical presentation and progressive multisystemic organ damage. Lack of awareness of FD and frequent misdiagnoses cause long diagnostic delays. To address the urgent need for earlier diagnosis, we created an online, risk-assessment scor...
Background: Fabry disease (FD) is a rare, progressive disorder caused by pathogenic variants of the GLA gene resulting in the accumulation of toxic metabolites. Pain is a hallmark of FD, and patients often present with heterogeneous pain profiles. This cross-sectional, web-based survey was conducted to characterize pain and pain crises in patients...
Background
Hereditary angioedema (HAE) is a genetic condition characterized by dysregulation of the contact (kallikrein-bradykinin) pathway leading to recurrent episodes of angioedema.
Objective
This project sought to determine if a suspicion index screening tool using electronic health record (EHR) data can identify patients with an increased lik...
The rapid spread of coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 has raised questions about Fabry disease (FD) as an independent risk factor for severe COVID-19 symptoms. Available real-world data on 22 patients from an international group of healthcare providers reveals that most patients with FD ex...
There is a lack of information about knowledge gaps in the lysosomal storage disease (LSD) population, which limits the capacity for proper genetic counseling. This is the first study to discern these gaps and assesses if online information can fill them. This study consists of a pre-survey, a research period, and a post-survey. The pre-survey coll...
Purpose of Review
The lysosomal storage diseases (LDs) are a group of over 70 inherited metabolic conditions caused by deficiencies in one or more lysosomal enzymes affecting degradation pathways, transportation mechanisms, or other key mechanisms that hamper lysosomal functioning. LDs are individually rare but collectively common with a combined i...
Background
The p.Asn215Ser or p.N215S GLA variant has been associated with late‐onset cardiac variant of Fabry disease.
Methods
To expand on the scarce phenotype data, we analyzed natural history data from 125 p.N215S patients (66 females, 59 males) enrolled in the Fabry Registry (NCT00196742) and compared it with data from 401 patients (237 femal...
Smartphones, artificial intelligence, automation, digital communication, and other types of technology are playing an increasingly important role in our daily lives. It is no surprise that technology is also shaping the practice of medicine, and more specifically the practice of genetic counseling. While digital tools have been part of the practice...
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene leading to deficient α-galactosidase A activity, glycosphingolipid accumulation, and life-threatening complications. Phenotypes vary from the "classic" phenotype, with pediatric onset and multi-organ involvement, to later-onset, a predominantly cardiac pheno...
Citations
... In addition to the FDrisk, screening tools using AI methodology are currently in development and have great future potential to identify undiagnosed patients with FD. One such tool, the OM1 Patient Finder ™ (OM1 Inc., Boston, MA, USA), uses deidentified longitudinal health history data and predictive analytics to identify patients most likely to qualify for, and participate in, specific trials [37]. This includes patients who may have relevant but undiagnosed disease. ...
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... Laney et al 19 addressed common pathogenesis and target organs between Fabry disease and COVID-19. Both groups can cause stroke, heart, and lung involvement, severe kidney disease, micro/macrothrombus due to endothelial dysfunction, systemic inflammation, and gastrointestinal and skin disease. ...
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... As of 2017, plasma lyso-GL-3 concentration is included in the Recommended Schedule of Assessments and data are collected through the Fabry Registry as the body of evidence supporting its potential value as a biomarker for disease staging and treatment response has grown [74]. Moreover, following the outbreak of the COVID-19 pandemic, questions emerged about the potential susceptibility of FD patients and impact of this viral infection on disease outcomes [75]. ...
... Az életkor elõre haladtával a minor anomáliák kifejezettebbé válnak a GSL felhalmozódás miatt (11). A mesterséges képanalízis technikán alapuló, egészségügyi szakemberek részére ingyenes Face2Gene platform alkalmazható a Fabry-betegek minor anomáliáinak felderítésére (44). ...
Reference: Fabry disease – diagnostic guideline
... Cardiovascular involvement a major source of death and morbidity among MPS patients as well as other LSDs. There is an increasing need to develop novel noninvasive means of early prediction of potential cardiac involvement in patients with LSDs [4][5][6][7][8]. ...
... VA in males than females [7,19]. Risk factors for VA are illustrated in Fig. 2. No change in frequency of tachyarrhythmia has been demonstrated solely according to mutation-type in FD [20]. ...
Reference: Arrhythmogenesis in Fabry Disease
... optimizing efficiency without compromising the quality of services or increasing counselor burnout. [1][2][3][4][5] Though expansion of GC services is ideal to meet the needs of the growing precision medicine field, it is unclear which elements of GC visits are essential to provide quality patient care, positive patient experiences, and genetic counselor satisfaction. Elucidating the GC communication skills used in sessions is critical as these skills are the basis for assessing the quality and effectiveness of GC services. ...
... Concerning disease awareness, they highlighted the need to produce information on best practices and to make it easily accessible to all physicians, not only specialists but also PCPs. (19,20) . Efforts should also be made to homogenize registries. ...
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... MPS I/II are the only MPS disorders included on the RUSP, having their nomination confirmed in 2016 and 2022 [53,54]. PD was recommended for addition to the RUSP in 2013 and added as a core disorder in 2015 [25]. The AHCDNC completed a review of EIKD in 2010 and declined its inclusion on the RUSP, noting that while EIKD would benefit from early diagnosis and intervention, the possibility of substantial harm from screening and/or treatment precluded addition to the panel [55]. ...
