bims-curels Biomed News
on Leigh syndrome
Issue of 2026–08–23
seven papers selected by
Cure Mito Foundation
  1. From patient advocacy to patient-driven research: Building active partnerships beginning at the bench to reach the bedside.
  2. Why is family disclosure of genetic risk so difficult? A collaborative analysis of 685 rare-disease patient experiences.
  3. Recommendations for generating real-world evidence with regulatory-grade relevance and reliability.
  4. Do patients and the public understand and feel engaged and valued after reading outcome set study invitations? A UK qualitative study.
  5. Multi-Omics Integration in Clinical Practice for the Identification of Genetic Variants in Rare Diseases.
  6. Restoring mitochondria and associated chaperone function: New therapeutic strategies for neurodegenerative diseases.
  7. From Posts to Practice: Methodological, Interpretive, and Translational Challenges in Digital Platform-Based Research.
  1. FEBS Open Bio. 2026 Aug 20.
    From patient advocacy to patient-driven research: Building active partnerships beginning at the bench to reach the bedside.
    Jenica H Kakadia, Rachel Heilmann, Maximiliano Barrientos, Laura MacNeill, Ingrid Vallee, Sarah K Schultz, Patrick O'Donoghue, Angelica A Moresco, Victoria M Siu, Ilka U Heinemann.
      Patient advocates offer lived experience that can shape research priorities, methods, and outcomes. Patient engagement contributes valuable resources to research, including meaningful additions to research design, definition of research priorities, and dissemination of outcomes. It is therefore critical that patients and patient advocates be part of the biomedical research process; which can be achieved by changing the perspective of patients as the recipients of research outcomes, to being partners in the process. Patient, clinician, and researcher interactions are particularly important in rare disease research, where little funding is allocated to each disease, making the definition of research priorities even more important. Here, we outline how patients can contribute to biomedical research and provide a step-by-step guide for patient engagement at scientific conferences.
    Keywords:  patient advocacy groups; patient panels at scientific conferences; patient‐driven research
    DOI:  https://doi.org/10.1002/2211-5463.70318
  2. Eur J Hum Genet. 2026 Aug 21.
    Why is family disclosure of genetic risk so difficult? A collaborative analysis of 685 rare-disease patient experiences.
    IGPrare group
      Difficulties of sharing information about genetic risks, for medical purposes, with family members are well known to patients with rare genetic diseases and healthcare professionals. To understand the mechanisms underlying the difficulties associated with the family disclosure of genetic risk (FDGR) process, an online questionnaire survey was designed in collaboration with French patient associations, healthcare professionals and academics. 595 patients with various rare diseases, or their relatives, who had an experience of FDGR, reported 685 FDGR events. Using hierarchical clustering on the principal components (HCPC) of a multiple correspondence analysis (MCA), these 685 experiences were divided into three clusters, representing 347 (Cluster 1 50.7%), 175 (Cluster 2 25.5%) and 163 (Cluster 3 23.8%) FDGR events, respectively. In cluster 1, the FDGR events described were considered generally satisfactory. In cluster 2 and cluster 3 (approximately 50% of FDGR), the FDGR events described were considered unsatisfactory, both in terms of information transmission and psychosocial damage, mainly due to a poor understanding of the information to be conveyed and/or low motivation, particularly in families experiencing relationship difficulties. However, other factors, such as certain characteristics of the disease or the type of healthcare professional involved in the process, do not appear to differ significantly between the three clusters. Our results, obtained through a collaborative approach, provide a basis for the collective development of tools (i) aimed at improving patients' understanding of genetic information and their motivation to disclose it to family members, but if this proves impossible or too difficult, (ii) to delegate disclosure to healthcare professionals.
    DOI:  https://doi.org/10.1038/s41431-026-02205-8
  3. Int J Clin Oncol. 2026 Aug 20.
    Recommendations for generating real-world evidence with regulatory-grade relevance and reliability.
    Yasutoshi Sakamoto, Hideaki Bando, Yoshihiro Aoyagi, Hiroki Sokuoka, Toshihiro Misumi, Koji Oba, Yukiko Mori, Jun Okui, Makoto Miyazaki, Yasunari Sadatsuki, Kazuma Koizumi, Rie Otake, Akinori Yuri, Eri Tajima, Taro Ueno, Takayuki Nakamura, Hiroki Yoshihara, Keisuke Itoya, Ryosuke Annaka, Harumasa Nakamura, Natsuko Okita, Hideaki Takahashi, Tomohiro Kuroda, Kenichi Nakamura, Takayuki Yoshino, Atsushi Ohtsu.
      Real-world data (RWD) and real-world evidence (RWE) are increasingly incorporated into regulatory decision-making to complement randomized controlled trials (RCTs), particularly in settings where conventional trial designs are infeasible, such as rare diseases, rare molecular subtypes, and post-marketing evaluation. Across regulatory authorities, the use of RWD/RWE is consistently framed by the fit-for-purpose principle, centered on two foundational concepts: relevance and reliability. However, the absence of operational guidance has created uncertainty regarding how academic registries and healthcare databases can be designed or upgraded to meet regulatory expectations. Drawing on practical experience with disease registries in Japan and their regulatory applications, this review proposes a purpose-oriented framework clarifying the levels of relevance and reliability required according to specific regulatory objectives. We categorize considerations into three use cases: (1) drug development for rare diseases and rare molecular subtypes; (2) Pharmacovigilance; and (3) evidence generation for clinical questions that cannot be sufficiently evaluated through randomized controlled trials (RCTs). For each category, we outline essential requirements related to study design, data elements, quality management, governance, statistical planning, and operational feasibility. We further compare regulatory expectations across the U.S. Food and Drug Administration (FDA), the European Medicines Agency (EMA), the Pharmaceuticals and Medical Devices Agency (PMDA), and the International Council for Harmonisation (ICH). While international convergence is evident at the level of principles, operational thresholds and implementation frameworks differ. By articulating relevance and reliability as a shared regulatory language and emphasizing purpose-driven design and early regulatory engagement, this review provides practical recommendations for generating regulatory-grade RWE that meaningfully informs regulatory decision-making while complementing conventional clinical trials.
    Keywords:  Pharmacovigilance; Real-World Data; Relevance; Reliability
    DOI:  https://doi.org/10.1007/s10147-026-03160-6
  4. BMJ Open. 2026 08 18. 16(8): e111016
    Do patients and the public understand and feel engaged and valued after reading outcome set study invitations? A UK qualitative study.
    Heather Barrington, Rebecca Craven, Paula R Williamson, Bridget Young.
       BACKGROUND: The use of core outcome sets (COSs) in health research is widely recommended. COSs are developed with input from key decision makers, patients being a vital group to ensure COS relevance. However, recruitment to COS studies can be challenging.
    OBJECTIVES: The study aimed to explore what patients and the public think of COS study invitations, which are usually the first document a patient reads about a COS study.
    DESIGN: Qualitative study involving focus groups and interviews. Analysis of transcribed data drew on reflexive thematic analysis.
    PARTICIPANTS AND SETTING: Focus groups and interviews were conducted with a diverse range of patients and the public (n=31) from community and patient groups in North West England, exploring their perceptions of a sample of COS study invitations. Participants were eligible if aged over 18 years, they could speak English and had never previously participated in a COS study.
    RESULTS: Themes identified included understanding, engagement, safety and accessibility. Participants were concerned about excessive information in the invitations which made them confused. Fear of cybercrime caused numerous concerns and participants were reluctant to click on links or attachments. Trust in the people sending the invitations was key. Participants wanted to see messages that COS studies had a meaningful purpose to feel their contributions were valuable. They were keen to contribute to improving future 'treatment' but less motivated to improve 'research'. Messages that evoked a feeling of connection with others who they could relate to were positively regarded. Participants also highlighted ways that invitations could be made more accessible.
    CONCLUSION: COS invitations can present numerous challenges for potential participants, but our study indicates ways that COS developers can address these challenges and make their invitations more appealing to potential participants. As part of the wider Good Research Invitation Study the findings have been used to inform guidance on designing a good COS invitation.
    Keywords:  Patient Participation; QUALITATIVE RESEARCH; Research Design; STATISTICS & RESEARCH METHODS
    DOI:  https://doi.org/10.1136/bmjopen-2025-111016
  5. Arch Med Res. 2026 Aug 17. pii: S0188-4409(26)00128-1. [Epub ahead of print]57(8): 103506
    Multi-Omics Integration in Clinical Practice for the Identification of Genetic Variants in Rare Diseases.
    Jonathan Olival, Jordi Pijuan, Natàlia Caelles-Gramunt, Nidia Barco-Armengol, Leila Maestro, Guerau Fernández, Janet Hoenicka, Francesc Palau.
      One of the main challenges in the field of rare diseases (RDs) remains the persistent lack of timely and accurate diagnoses. Currently, it is estimated that over half of patients remain undiagnosed. The recent development of high-throughput omics technologies, such as genomics, transcriptomics, epigenomics, proteomics, and metabolomics, is transforming the diagnosis and research of rare genetic diseases. These technologies allow for a deeper understanding of the underlying molecular mechanisms and greatly improve diagnostic accuracy. This review outlines a comprehensive clinical workflow that integrates deep phenotyping, genomic variant identification, and functional validation with multi-omics approaches to enhance diagnostic accuracy in RDs. We detail the key methodologies, bioinformatics tools, and developmental processes used in omics, focusing on their roles in identifying and prioritizing candidate variants, interpreting variants of uncertain significance, and generating clinically relevant information. Furthermore, we highlight the importance of both targeted and non-targeted functional validation strategies, which provide essential evidence of pathogenicity. The integration of multi-omics approaches will improve our understanding of RDs, enhance diagnostic accuracy in clinical settings, and lay the foundation for future therapeutic development within the framework of precision medicine.
    Keywords:  Diagnostics; Genetic variants; Genomics; Multi-omics; Rare diseases
    DOI:  https://doi.org/10.1016/j.arcmed.2026.103506
  6. Pharmacol Ther. 2026 Aug 21. pii: S0163-7258(26)00128-2. [Epub ahead of print] 109101
    Restoring mitochondria and associated chaperone function: New therapeutic strategies for neurodegenerative diseases.
    Xue Xia, JiaBo Zhang, Xingyu Lin, Xinhui Zhao, Chun Mao, Ziyu Wu, Mimi Wan.
      Neurodegenerative diseases have emerged as a significant global health challenge, with existing treatments merely providing symptomatic relief and failing to halt disease progression. Mitochondrial dysfunction and an imbalance in the molecular chaperone network constitute the core common pathological mechanisms underlying various neurodegenerative diseases (NDDs). These two factors collaboratively induce energy metabolism disorders, oxidative stress, calcium homeostasis imbalance, and protein homeostasis collapse, collectively driving neuronal degeneration. This article systematically elucidates the core characteristics of mitochondrial dysfunction in NDDs, dissects the molecular mechanisms by which the mitochondrial molecular chaperone network maintains mitochondrial homeostasis, summarizes therapeutic strategies for NDDs aimed at restoring mitochondrial and related molecular chaperone functions, discusses the current challenges faced in research, such as targeted delivery and clinical translation, and also proposes potential development directions for future.
    Keywords:  Mitochondrial dysfunction; Mitochondrial molecular chaperone; Neurodegenerative disease; Treatment strategy
    DOI:  https://doi.org/10.1016/j.pharmthera.2026.109101
  7. Contraception. 2026 Aug 21. pii: S0010-7824(26)00211-8. [Epub ahead of print] 111574
    From Posts to Practice: Methodological, Interpretive, and Translational Challenges in Digital Platform-Based Research.
    Leo Han.
      Digital platforms have become primary spaces where people encounter and engage with information about contraception, abortion and other reproductive health topics. Researchers have increasingly turned to these platforms to study health-related discourse, yet the methodological and interpretive challenges of this work are substantial. This commentary examines methodological, interpretive, and translational challenges arising across the digital platform research pipeline. Key challenges include data access limitations imposed by platform corporations, the difficulty of achieving or confirming representation within algorithmically personalized environments, temporal instability of platform content, and the growing use of multimodal data. Beyond data collection, significant interpretive concerns arise from unclear denominators, platform engagement metrics that are not comparable across platforms, the absence of user-level demographic information, and the increasing presence of non-human and AI-generated content. Finally, there exists a translational gap between platform-derived endpoints and clinically meaningful outcomes, with the inherent lag in traditional publication cycles further diminishing the relevance of study findings. Ultimately, a more rigorous methodological foundation and focus on more than simply descriptive, cross-sectional studies would improve both the scientific rigor and translational value of digital platform research in reproductive health.
    Keywords:  Digital Platforms; Family Planning; Reproductive Health; Social Media; Study Methodology
    DOI:  https://doi.org/10.1016/j.contraception.2026.111574
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