Orphanet Journal of Rare Diseases最新文献

{"title":"Comparison of parental caregivers and associated factors with caregiver burden in rare paediatric diseases.","authors":"Maja Brandt, Laura Inhestern, David Zybarth, Ramona Otto, Martin Härter, Corinna Bergelt","doi":"10.1186/s13023-026-04570-5","DOIUrl":"10.1186/s13023-026-04570-5","url":null,"abstract":"<p><strong>Background: </strong>Caregiving for children with rare diseases is associated with substantial psychosocial and practical burden, yet evidence on associated factors of caregiver burden across heterogeneous rare disease populations remains limited.</p><p><strong>Methods: </strong>In this cross-sectional study, 123 parents (84% female) of children with rare diseases were recruited from specialised centres and patient advocacy organisations in Germany. Parents were descriptively analysed and compared according to the presence of disease-related care needs. Factors associated with caregiver burden among parents of children with care needs were examined using multiple linear regression.</p><p><strong>Results: </strong>Overall, 23% of parents reported borderline or clinically relevant depressive symptoms and 77% reported at least one unmet supportive care need. Within the care needs subgroup, 24% reported high caregiver burden. After adjustment for multiple testing, group differences between parents of children with and without care needs were not statistically significant for depressive symptoms, unmet supportive care needs, or treatment satisfaction, although medium effect sizes indicated potentially meaningful differences. Children with care needs were significantly younger, had earlier symptom onset, and tended to show higher symptom severity. Lower care-related quality of life, higher socioeconomic status, parental depressive symptoms, and lower treatment satisfaction were identified as the strongest factors associated with caregiver burden.</p><p><strong>Conclusions: </strong>Caregiver burden in parents of children with rare diseases in Germany is multifactorial and shaped by both child- and parent-related factors. The unexpected association between higher socioeconomic status and greater caregiver burden requires further investigation. These findings support the need for systematic caregiver burden screening and holistic, family-centred interventions across all socioeconomic groups.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"21 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13673760/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149194713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Longitudinal assessment of the retinal phenotype in patients with Fabry disease undergoing continuous enzyme replacement and/or chaperone therapy.","authors":"Annabelle Volk, Jan Wildner, Johannes Birtel, Simon Dulz, Luca Mautone, Anja Köhn, Nicole Muschol, Yevgeniya Atiskova","doi":"10.1186/s13023-026-04654-2","DOIUrl":"10.1186/s13023-026-04654-2","url":null,"abstract":"<p><strong>Purpose: </strong>Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by deficiency of the enzyme α-galactosidase A. This study describes the long-term evolution of retinal findings in genetically confirmed FD patients, who have been receiving enzyme replacement therapy (ERT) or pharmacological chaperone therapy (PCT).</p><p><strong>Methods: </strong>This retrospective observational study included 42 eyes of 21 patients, who underwent comprehensive ophthalmic examination including best-corrected visual acuity (BCVA) testing, tonometry, slit-lamp biomicroscopy of the anterior eye segment, fundus examination and spectral-domain optical coherence tomography (OCT) imaging. Longitudinal analysis focused on the central retinal thickness (CRT), peripapillary retinal nerve fiber layer (RNFL) thickness, intraretinal hyperreflective foci (HRF), and retinal vessel tortuosity.</p><p><strong>Results: </strong>Over a median follow-up period of 6.5 years, BCVA remained stable in all patients. Serum lyso-globotriaosylceramide (lyso-Gb3) levels demonstrated strong correlations with intraretinal HRF and retinal vessel tortuosity but no significant change during the observation period was observed. Longitudinal assessment showed no significant change of HRF, retinal vessel tortuosity or CRT over time, whereas a significant reduction of RNFL thickness was observed, although these values remained within the normal range.</p><p><strong>Conclusion: </strong>Long-term treatment with ERT or PCT in FD is associated with a largely stable retinal phenotype. Retinal imaging parameters remain structurally preserved over time, with only mild RNFL thinning observed, suggesting limited progressive retinal neurodegeneration.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"21 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13647613/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149137881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lower mitochondrial DNA copy number in ATTRV50M Swedish carriers.","authors":"Gabriella Johannson, Malin Olsson, Marina Rubio Garcia, Anders Olofsson, Intissar Anan","doi":"10.1186/s13023-026-04645-3","DOIUrl":"10.1186/s13023-026-04645-3","url":null,"abstract":"<p><strong>Background: </strong>Hereditary transthyretin (TTR) amyloidosis caused by TTR p.Val50Met (ATTRV50M) is a progressive systemic disease caused by misfolding of the protein transthyretin (TTR). The conversion of TTR into an amyloidogenic state has recently been found to be strongly influenced by a non-native disulfide bond, thus also a redox environment. Variation in mitochondrial DNA (mtDNA) copy number serves as an indirect marker of redox imbalance and mitochondrial dysfunction. MtDNA is moreover strictly maternally inherited, supporting previous findings where maternal inheritance of the pathogenic variant also results in both a more severe disease and an earlier onset. Considering these aspects, we aimed to investigate mtDNA levels in Swedish TTRp.Val50Met carriers.</p><p><strong>Methods: </strong>304 individuals were divided into three groups: symptomatic and asymptomatic TTR p.Val50Met carriers, and healthy non-carrier controls. Relative mtDNA copy number was quantified from buffy coat samples using multiplex qPCR.</p><p><strong>Results: </strong>Symptomatic TTR p.Val50Met carriers showed a significantly lower copy number (p = 0.002) compared to the asymptomatic carriers. When stratified by sex, a significantly lower mtDNA copy number in symptomatic compared to asymptomatic carriers was observed only among males (p = 0.028). Furthermore, a significant difference in copy number (< 0.001) could be demonstrated in ≥ 50 year-olds (considered late onset in Swedish ATTRV50M population) betweensymptomatic and asymptomatic TTR p.Val50Met carriers, which could not be seen in < 50 year-olds (Swedish early onset).</p><p><strong>Conclusion: </strong>These findings indicate an association between lower mtDNA copy numbers and symptomatic disease in Swedish TTR p.Val50Met carriers, suggesting potential mitochondrial involvement in disease progression.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"21 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13647504/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149137856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hyperphagia in Prader-Willi syndrome: linking hypothalamic dysfunction to clinical assessment and management across the lifespan.","authors":"Maithé Tauber, Gwenaëlle Diene, Christine Poitou, Charlotte Höybye, Evelien F Gevers, Anthony P Goldstone, Andrea M Haqq, Yoon Hi Cho, Ashley H Shoemaker, Janice L Forster, Anthony Holland, Stephanie Brown, Laura de Graaff, Ann Manzardo, Assumpta Caixàs, Elena G Bochukova, Paula Maguire, Dairine Dempsey, Jennifer Miller","doi":"10.1186/s13023-026-04601-1","DOIUrl":"10.1186/s13023-026-04601-1","url":null,"abstract":"<p><strong>Background: </strong>Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder characterised by hypothalamic dysfunction and profound dysregulation in hunger and appetite regulation, endocrine function, metabolism and behaviour. Hyperphagia is a defining clinical feature and a major contributor to morbidity, mortality and caregiver burden. Increasing evidence suggests that hyperphagia in PWS represents a multidimensional disorder rather than excessive appetite alone.</p><p><strong>Results: </strong>In December 2024, an international meeting of clinical and scientific experts was convened in Toulouse, France, to explore current understanding of hyperphagia in PWS, challenges in assessment, and evolving approaches to management across the lifespan. Although not a formal consensus process, several consistent themes emerged. These included limitations of existing assessment tools, the need for multidimensional evaluation (including use of instruments such as the Hyperphagia Questionnaire and Hyperphagia Questionnaire for Clinical Trials (HQ-CT). The central role of structured food environments, and vulnerabilities during transition to adult care were also identified as key themes. Experts emphasised that hyperphagia reflects interactions between impaired satiety signalling, activation in reward neurocircuitry, autonomic dysfunction and environmental factors. Management therefore requires integrated biological, behavioural and environmental approaches. While food security and structured support remain foundational, emerging pharmacological therapies may complement multidisciplinary care and reduce caregiver burden.</p><p><strong>Conclusions: </strong>Hyperphagia in PWS should be conceptualised as a complex, multidimensional disorder requiring comprehensive assessment and integrated management. Future priorities include development of additional validated outcome measures, identification of biomarkers, and care models that better align mechanistic insights with real-world clinical practice.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"21 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13640150/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149113200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From transfer to receipt: transition in neuromuscular disorders in the era of disease-modifying therapy.","authors":"Nadia Abdallah, Hans D Katzberg","doi":"10.1186/s13023-026-04624-8","DOIUrl":"10.1186/s13023-026-04624-8","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"21 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13640379/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149113155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical management of metachromatic leukodystrophy cases identified in the German and Austrian Newborn screening pilots.","authors":"Lucia Laugwitz, Pascal Martin, Nils Janzen, Sebastian Hegert, Thomas Neiße, Madeleine Wacker, Jan Kern, Nadja Kaiser, Christiane Kehrer, Annina-Clarissa Jaeger, Tom Launer, Philipp Juengling, Maximilian Zeyda, Vassiliki Konstantopoulou, Sebastian Graeter, Ursula Holzer, Peter Lang, Tim Flaadt, Barbara Plecko, Lukas Neubauer, Daniela Karall, Thomas Zöggeler, Stephan T Hold, Petra Oliva, David Kasper, Stefanie Beck-Woedl, Tobias Haack, Hendrik Rosewich, Samuel Groeschel","doi":"10.1186/s13023-026-04620-y","DOIUrl":"10.1186/s13023-026-04620-y","url":null,"abstract":"<p><strong>Background: </strong>Metachromatic leukodystrophy (MLD) is a rapidly progressive leukodystrophy that leads to severe disability and early death if untreated. Autologous hematopoietic stem and progenitor cell gene therapy (HSPC-GT, atidarsagene autotemcel, arsa-cel) for early onset subtypes and allogenic hematopoietic stem cell transplantation (HSCT) for late onset disease substantially alters disease progression for early onset disease when administered before symptom onset, creating a strong rationale for newborn screening (NBS). At the same time, NBS technique for MLD in dried blood spots has recently been demonstrated to be robust and highly accurate. The aim was to give real-world results from the world's first NBS pilots for clinical management and treatment of identified children.</p><p><strong>Methods: </strong>Between September 2021 and July 2025, 359,282 newborns underwent NBS for MLD in two different laboratories in Germany and Austria using a three-tier algorithm integrating sulfatide quantification, arylsulfatase A (ARSA) activity measurement, and ARSA sequencing. Screen-positive infants underwent a predefined care pathway including standardized confirmatory diagnostics, genotype-based and biochemical prediction of disease onset, clinical assessment and management guiding early treatment and surveillance at the qualified treatment center (QTC) in Tübingen.</p><p><strong>Results: </strong>Nine newborns screened positive and all were confirmed to have MLD (detection rate approximately 1 per 40,000). Based on genotype and leukocyte ARSA enzyme activity, disease onset prediction was possible in all of them. Seven infants were classified as having pre-symptomatic early-onset MLD and were referred for HSPC-GT. All treated infants showed preserved neurological function up to 30 months after treatment (median 18.5 months). Two infants predicted to develop late-onset MLD entered structured surveillance for treatment with HSCT and have remained clinically asymptomatic for CNS signs of disease. No false-positive or known false-negative results were observed.</p><p><strong>Conclusion: </strong>These results from our pilot programs demonstrate that NBS enables reliable early identification of MLD and support streamlined care pathways leading to timely intervention. Importantly, this study provides real-world evidence illustrating that NBS for MLD can enable timely, pre-symptomatic treatment and structured surveillance within standard national healthcare systems. These findings further substantiate the value of NBS for MLD at a critical moment as several countries consider national implementation of MLD screening.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"21 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13640125/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149113117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and genetic spectrum of dual rare genetic diseases revealed by whole-exome sequencing in 14 pediatric patients.","authors":"Minjun Zhao, Fuwei Li, Xiangpeng Lu, Hong Zheng, Xilong Du","doi":"10.1186/s13023-026-04462-8","DOIUrl":"10.1186/s13023-026-04462-8","url":null,"abstract":"<p><strong>Background: </strong>Dual molecular diagnoses, defined as the coexistence of pathogenic variants in two distinct disease-causing genes, challenge the traditional single-gene model of Mendelian inheritance. With the advent of whole-exome sequencing (WES), such complex genotypes are increasingly recognized.</p><p><strong>Objective: </strong>To investigate the clinical and genetic spectrum of dual rare genetic diseases in pediatric patients and to assess the diagnostic utility of WES in detecting diverse variant types.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on 872 children with suspected rare genetic disorders who underwent proband or trio-based WES from January 2019 to February 2025. Variants were classified according to American College of Medical Genetics and Genomics(ACMG) guidelines. Dual diagnoses were confirmed when two independent pathogenic or likely pathogenic variants, each explaining part of the phenotype, were identified.</p><p><strong>Results: </strong>Among 872 patients, 370 (42.4%) received a molecular diagnosis, and 14 (3.8%) were confirmed with dual molecular diagnoses. Autosomal dominant (AD) disorders were most frequent (85.7%), de novo variants represented 57.14% (8 out of 14 cases). Six patients (42.9%) harbored combinations of single nucleotide variant (SNV) and other variant types, including exon deletions, paternal uniparental disomy (UPD15). Clinically, 14.3% of cases were phenotypically distinct, while 85.7% were phenotypically overlapping.</p><p><strong>Conclusion: </strong>Dual molecular diagnoses occur in approximately 3.8% of molecularly diagnosed patients and frequently involve de novo dominant variants. WES effectively detects multiple variant types (including SNV, CNV, exon deletions, UPD, and mosaicism) providing crucial insights for precise diagnosis, management, and genetic counseling in children with complex phenotypes.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"21 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13591918/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149012673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Real world data from the Heidelberg Registry of Chronic Singultus (HeReChroS).","authors":"Claudia Busch, Marco Richard Zugaj, Nelly Zental, Jens Keßler","doi":"10.1186/s13023-026-04571-4","DOIUrl":"10.1186/s13023-026-04571-4","url":null,"abstract":"<p><strong>Background and aims: </strong>Hiccups lasting more than one month (\"chronic singultus\") is a rare disease that impairs quality of life. Its low prevalence hampers evidence generation. The new Heidelberg Registry of Chronic Singultus (HeReChroS) aims to gather epidemiological data, assess disease burden, identify care gaps, improve treatment, and contribute to a more precise clinical characterization of the disease. This analysis of real-world data seeks to characterize the current HeReChroS patient cohort.</p><p><strong>Methods: </strong>The routinely collected data of patients with chronic singultus (ICD 10: G25.3) from October 2022 to March 2025 were retrospectively entered into HeReChroS. Descriptive statistics were calculated on data of the initial visit, including demographics, medical history, and patient-reported outcomes (PROs) such as disease burden and well-being.</p><p><strong>Results: </strong>A total of 131 patients were included (104 male, 27 female). Common symptoms alongside hiccups included fatigue (90%), sleep disorders (80%), and concentration difficulties (70%). Comorbidity frequency was high (median 3, IQR 2, range 0-9, mode 2 comorbid organ systems), with gastrointestinal (75%), vascular (52%), and pulmonary (28%) conditions most common. Well-being was markedly reduced (mean 35.3, SD 22, range 0-90, on a 0-100 scale). Screening questionnaires suggested that 42% of patients were depressed, and 15% of patients reported suicidal thoughts.</p><p><strong>Conclusion: </strong>HeReChroS offers a large dataset of patients with chronic singultus, enabling in-depth analysis of this rare disease. Quality of life is markedly impaired, and management remains challenging. Expanding the registry across countries and languages would enhance the statistical power and generalizability. German Clinical Trials Registry (Number: DRKS00033956, 25 March 2024, URL: https://www.drks.de/DRKS00033956 ).</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"21 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13613689/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149040339","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient pathways for rare liver diseases: a European template developed by ERN RARE-LIVER.","authors":"Sarah Raevens, Renée Duijzer, Andreea Fodor, Matt Bolz Johnson, Nagham Issa, Sophie Pénisson, Samir Patel, Alice Bertolini, Carmen A J Teemer, Clemence Ramier, Laure Elkrief, Marco Senzolo, Virginia Hernandez-Gea, Ansgar W Lohse, Bogdan Procopet, Joost P H Drenth, Aurélie Plessier","doi":"10.1186/s13023-026-04556-3","DOIUrl":"10.1186/s13023-026-04556-3","url":null,"abstract":"<p><strong>Background: </strong>Rare liver diseases are associated with diagnostic delay, fragmented care, inconsistent management, and limited patient support. Patient pathways may help address these challenges by translating clinical guidance and patient priorities into practical, coordinated care processes.</p><p><strong>Main body: </strong>This manuscript presents a European template for developing patient-centred pathways for rare liver diseases within ERN RARE-LIVER. The template was developed through multidisciplinary collaboration involving hepatologists, specialist nurses, patient representatives, patient organisations, and EURORDIS, and was informed by clinical guidance, patient-journey principles, and iterative expert and patient review. The proposed framework follows four phases of the patient journey: pre-diagnosis, diagnosis, management, and long-term follow-up. It includes disease-specific sections, educational resources, frequently asked questions, and \"10 key questions\" to support shared decision-making. Pathways for non-cirrhotic portal vein thrombosis, polycystic liver disease, and portosinusoidal vascular disorder illustrate the practical application of the template.</p><p><strong>Conclusion: </strong>This European template provides a practical, adaptable framework aimed at supporting harmonised, multidisciplinary, and patient-centred care for rare liver diseases across European healthcare settings. Future work should evaluate implementation, usability, and impact on care coordination and patient experience.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"21 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13570500/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148956380","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unlocking MENA's potential in rare-disease precision medicine.","authors":"Brahim Tabarki, Khalid Hundallah, Majid Alfadhel","doi":"10.1186/s13023-026-04566-1","DOIUrl":"10.1186/s13023-026-04566-1","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"21 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13545759/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148892285","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}