bims-curels Biomed News
on Leigh syndrome
Issue of 2023‒11‒05
five papers selected by
Cure Mito Foundation

  1. Front Artif Intell. 2023 ;6 1237124
      Patients' increasing digital participation provides an opportunity to pursue patient-centric research and drug development by understanding their needs. Social media has proven to be one of the most useful data sources when it comes to understanding a company's potential audience to drive more targeted impact. Navigating through an ocean of information is a tedious task where techniques such as artificial intelligence and text analytics have proven effective in identifying relevant posts for healthcare business questions. Here, we present an enterprise-ready, scalable solution demonstrating the feasibility and utility of social media-based patient experience data for use in research and development through capturing and assessing patient experiences and expectations on disease, treatment options, and unmet needs while creating a playbook for roll-out to other indications and therapeutic areas.
    Keywords:  artificial intelligence; natural language processing; patient experience; patient-focused drug development; social media; text analytics; unmet needs
  2. Schmerz. 2023 Nov 03.
      Mitochondrial diseases are complex metabolic disorders caused by genetic mutations and lead to impaired energy production in the mitochondria of cells. The clinical spectrum ranges from severe multiorgan involvement in early childhood to mild monosymptomatic courses in adulthood. The brain, heart, and skeletal muscles are particularly affected due to their high energy demands. Headaches in general and migraine in particular, occur disproportionately more frequently in patients with mitochondrial diseases. In recent years similarities in the pathomechanism of mitochondrial diseases and migraine have been investigated in numerous biochemical, genetic, and therapeutic studies. The results suggest a dysfunctional energy metabolism with demonstrable mitochondrial damage as a central aspect in the pathogenesis of migraine. These findings are valuable for a better understanding of primary headache disorders and mitochondrial diseases as well as for the optimization of diagnostic and treatment procedures and should be applied in the clinical practice.
    Keywords:  Biomarkers; Energy metabolism; Headache; MELAS syndrome; Mitochondria
  3. BMC Health Serv Res. 2023 Oct 31. 23(1): 1187
      BACKGROUND: Rare disease registries (RDRs) facilitate monitoring of rare diseases by pooling small datasets to increase clinical and epidemiological knowledge of rare diseases and promote patient centred best practice. The aim of this study was to understand the current state of RDRs in Australia, data captured, impact on patient outcomes, funding models, and barriers and enablers regarding their establishment and maintenance.METHODS: An exploratory sequential mixed methods study design was adopted. First, a list of Australian RDRs, primary contacts and data custodians was generated through online and consumer group (Rare Voices Australia (RVA)) contacts. A cross-sectional, anonymous online survey was distributed to registry custodians, managers, or principal investigators of 74 identified Australian RDRs, 88 RVA Partners, 17 pharmaceutical organizations and 12 RVA Scientific and Medical Advisory Committee members. Next, managers and coordinators of RDRs and databases who participated in the survey were invited to participate in semi-structured interviews. Quantitative and qualitative data were analysed using basic descriptive statistics and content analysis, respectively.
    RESULTS: Forty RDRs responded to the survey; nine were national, five were based in Australia and New Zealand, and the remaining were global. Of the 40 survey respondents, eight were interviewed. Most of the RDRs captured similar information regarding patient characteristics, comorbidities and clinical features, diagnosis, family history, genetic testing, procedures or treatment types, response to treatments and complications of treatments. Better treatment outcomes, changes in process of care and changes in quality of care were the most frequently reported benefits of the RDRs. The main challenges proved to be cost/funding of data collection, data completeness, and patient consent. When asked, the participants identified opportunities and challenges regarding potential options to streamline RDRs in Australia in the future.
    CONCLUSION: Findings from this study highlighted significant dataset heterogeneity based on the individual disease, and current lack of interoperability and coordination between different existing RDRs in Australia. Nevertheless, a nationally coordinated approach to RDRs should be investigated given the particular benefits RDRs offer, such as access to research and the monitoring of new disease-modifying treatments.
    Keywords:  Interviews; National strategy; Rare diseases; Registry; Survey
  4. Expert Opin Ther Targets. 2023 Oct 30. 1-4
    Keywords:  Aging; Extracellular Mitochondria; Hallmarks of Aging; Health; Healthy Longevity; Induced Pluripotent Stem Cells (iPSCs); Longevity; Mitochondria; Mitochondrial DNA (mtDNA); Mitochondrial Transfer; Mitochondrial Transplant; Rejuvenation; Senescent Cells; Telomeres
  5. PLoS One. 2023 ;18(11): e0293534
      Data curation encompasses a range of actions undertaken to ensure that research data are fit for purpose and available for discovery and reuse, and can help to improve the likelihood that data is more FAIR (Findable, Accessible, Interoperable, and Reusable). The Data Curation Network (DCN) has taken a collaborative approach to data curation, sharing curation expertise across a network of partner institutions and data repositories, and enabling those member institutions to provide expert curation for a wide variety of data types and discipline-specific datasets. This study sought to assess the satisfaction of researchers who had received data curation services, and to learn more about what curation actions were most valued by researchers. By surveying researchers who had deposited data into one of six academic generalist data repositories between 2019-2021, this study set out to collect feedback on the value of curation from the researchers themselves. A total of 568 researchers were surveyed; 42% (238) responded. Respondents were positive in their evaluation of the importance and value of curation, indicating that the participants not only value curation services, but are largely satisfied with the services provided. An overwhelming majority 97% of researchers agreed that data curation adds value to the data sharing process, 96% agreed it was worth the effort, and 90% felt more confident sharing their data due to the curation process. We share these results to provide insights into researchers' perceptions and experience of data curation, and to contribute evidence of the positive impact of curation on repository depositors. From the perspective of researchers we surveyed, curation is worth the effort, increases their comfort with data sharing, and makes data more findable, accessible, interoperable, and reusable.