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Qualitative needs assessment of financial impact on caregivers of children living with rare diseases 对罕见疾病儿童照料者的财务影响进行定性需求评估

Rare Pub Date : 2026-01-01 Epub Date: 2026-01-29 DOI: 10.1016/j.rare.2026.100119

Florian Delval, James Levine

{"title":"Qualitative needs assessment of financial impact on caregivers of children living with rare diseases","authors":"Florian Delval, James Levine","doi":"10.1016/j.rare.2026.100119","DOIUrl":"10.1016/j.rare.2026.100119","url":null,"abstract":"<div><h3>Purpose</h3><div>Families caring for children with rare diseases face sustained financial, emotional, and systemic challenges, yet cross-disease, cross-regional data remain limited. This study investigates the financial impact of caregiving from the perspective of rare disease advocacy organisations, rather than by caregivers themselves, focusing on costs, structural barriers, and potential reforms.</div></div><div><h3>Methods</h3><div>Semi-structured interviews were conducted with 45 rare disease organisations (24 U.S., 21 Europe). Purposive and snowball sampling ensured breadth. Interviews were transcribed, translated where needed, and thematically coded by six analysts using a validated framework (Cohen’s κ ≥ 0.80). Frequency analysis quantified recurring themes; narrative synthesis integrated cross-case patterns.</div></div><div><h3>Findings</h3><div>Eighty-two percent of organisations reported chronic caregiver financial distress, with average household income losses of €500–€2000 per month. Out-of-pocket costs for therapies, assistive devices, home adaptations, and travel were widely cited and often unreimbursed. Structural barriers, including restrictive eligibility, administrative complexity, and geographic inequities, were reported in more than 250 references. Approximately 80 % of caregivers were women, disproportionately facing employment disruption and emotional strain. Secondary impacts included debt, housing instability, marital breakdown, and reduced educational participation for affected children.</div></div><div><h3>Conclusion</h3><div>The financial toll of rare disease caregiving is compounded by fragmented support systems and inequitable access to benefits. Advocacy organisations identify urgent needs for caregiver recognition and compensation, streamlined benefit processes, expanded coverage for non-clinical costs, and harmonized cross-regional standards. These findings provide a policy-relevant evidence base to address structural drivers of caregiver financial hardship.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"4 ","pages":"Article 100119"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147396695","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Syndrome Without A Name (SWAN) clinic - Results from an evaluation of a new rare disease clinic pilot in NHS Wales. 没有名字的综合症（SWAN）诊所-结果从一个新的罕见病诊所试点在NHS威尔士的评估。

Rare Pub Date : 2026-01-01 Epub Date: 2026-01-09 DOI: 10.1016/j.rare.2026.100117

Agatha Hills , Harley Anderson , Zoe Morrison , Matthew Spencer , Graham Shortland , Kathleen Withers

{"title":"The Syndrome Without A Name (SWAN) clinic - Results from an evaluation of a new rare disease clinic pilot in NHS Wales.","authors":"Agatha Hills , Harley Anderson , Zoe Morrison , Matthew Spencer , Graham Shortland , Kathleen Withers","doi":"10.1016/j.rare.2026.100117","DOIUrl":"10.1016/j.rare.2026.100117","url":null,"abstract":"<div><div>Rare diseases are often associated with a delayed diagnosis, poor outcomes, and fragmented care. It is estimated that 170,000 people in Wales are living with a rare disease. The Syndrome Without A Name (SWAN) Clinic was established as the first service of its kind in the United Kingdom, to support patients with probable, undiagnosed rare diseases. Its objectives include reducing patients’ diagnostic odyssey, improving diagnostic rates, and enhancing care coordination. This pilot evaluation aimed to assess the impact the SWAN Clinic had on patient experiences and outcomes. Methods included patient-reported outcome measures (PROMs), patient-reported experience measures (PREMs), interviews with patients and their carers, and routinely collected clinical data. Results showed overwhelmingly positive user experience, particularly due to the clinic’s multidisciplinary and holistic approach. Non-significant improvements in self-management and perceived personal control were noted. Qualitative feedback indicated enhanced patient empowerment. To date, a diagnosis was achieved in 12.2 % of adults, and 7.3 % of paediatric patients referred to the clinic. However, among those who were reviewed and discharged, the combined diagnostic rate exceeds 61.0 %. This suggests the clinic has the potential to meet its objectives. Beyond diagnosis, the SWAN Clinic improved treatment plans and provided reassurance to its users and has fostered international relationships and development. This evaluation demonstrated that the SWAN Clinic can provide more coordinated and patient-centred care than patients’ previous experiences of care.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"4 ","pages":"Article 100117"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145978383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Lifestyle differences between rare and common cancer survivors: A population-based registry study 罕见和常见癌症幸存者的生活方式差异：一项基于人群的登记研究

Rare Pub Date : 2026-01-01 Epub Date: 2026-03-07 DOI: 10.1016/j.rare.2026.100120

Eline Pruijn-de Heus , Lyke Nijwening , Jan Maarten van der Zwan , Carla M.L. van Herpen , Matthias A.W. Merkx , Saskia F.A. Duijts

{"title":"Lifestyle differences between rare and common cancer survivors: A population-based registry study","authors":"Eline Pruijn-de Heus , Lyke Nijwening , Jan Maarten van der Zwan , Carla M.L. van Herpen , Matthias A.W. Merkx , Saskia F.A. Duijts","doi":"10.1016/j.rare.2026.100120","DOIUrl":"10.1016/j.rare.2026.100120","url":null,"abstract":"<div><h3>Purpose</h3><div>Practicing a healthy lifestyle can be challenging for rare cancer (RC) survivors, as they may experience a more complex disease trajectory and higher psychosocial burden, compared to common cancer (CC) survivors. This study aimed to assess lifestyle differences between RC and CC survivors, and to evaluate which sociodemographic and clinical factors are associated with RC survivors’ lifestyle.</div></div><div><h3>Methods</h3><div>Cross-sectional data on five lifestyle factors were extracted from the PROFILES registry: alcohol consumption, tobacco smoking, body mass index (BMI), physical activity, and dietary changes. For each behaviour, a ‘healthy’ and ‘unhealthy’ score was defined, and a total lifestyle score was generated. Univariate and multivariate linear regression analyses were performed.</div></div><div><h3>Results</h3><div>Lifestyle factors differed significantly between RC (n = 2294) and CC (n = 12,212) survivors, with RC survivors classified as healthier regarding alcohol consumption, BMI, physical activity, and dietary changes, yet, unhealthier regarding tobacco smoking (all: p < 0.05). RC survivors showed a higher total lifestyle score than CC survivors (p < 0.001), and healthier lifestyles in RC survivors were found in, e.g., females and those having a medium or high socioeconomic status; unhealthier lifestyles were found in those aged 40–64 years (all: p < 0.05).</div></div><div><h3>Conclusion</h3><div>Except for tobacco smoking, RC survivors were found to have a healthier lifestyle and a higher total lifestyle score compared with CC survivors. Although findings are relatively positive for RC survivors, factors associated with unhealthy behaviour should be acknowledged and acted upon by healthcare professionals, and lifestyle programs in which RCs’ needs are being met, specifically for tobacco smoking, should be developed.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"4 ","pages":"Article 100120"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147396696","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Adverse events experienced by people living with chronic rare diseases: A scoping review 慢性罕见疾病患者所经历的不良事件：范围综述

Rare Pub Date : 2026-01-01 Epub Date: 2025-12-06 DOI: 10.1016/j.rare.2025.100116

Leith Kwaan , Colleen Aldous , Helen L. Malherbe

{"title":"Adverse events experienced by people living with chronic rare diseases: A scoping review","authors":"Leith Kwaan , Colleen Aldous , Helen L. Malherbe","doi":"10.1016/j.rare.2025.100116","DOIUrl":"10.1016/j.rare.2025.100116","url":null,"abstract":"<div><h3>Background</h3><div>Rare diseases affect a significant proportion of the global population and largely lack approved treatment options. With subsequent reliance on off-label use, medicine safety monitoring is important. A scoping review was conducted to identify what is known from the current global literature regarding adverse events associated with pharmacological treatments used for chronic rare diseases.</div></div><div><h3>Methods</h3><div>The scoping review was conducted according to the Arksey and O’Malley framework, and the Preferred Reporting Items for Systematic reviews and Meta-Analyses Extension for Scoping Reviews (PRISMA-ScR) method. A Boolean search, including “rare disease” and “adverse” or “side effect”, was entered into Scopus, PubMed, Web of Science and Science Direct, to retrieve eligible publications from 2019 to 2024.</div></div><div><h3>Results</h3><div>In total, 4570 articles were retrieved and 139 included in the final analysis. Most were from high-income countries, involving biological agents, which were relatively well tolerated by patients. Immunosuppressant prescription was common (particularly corticosteroids), with associated typical adverse event profiles, highlighting the risk of infections. High treatment costs were observed, driven largely by biologicals, especially enzyme replacement therapies. Several articles featured repurposed medicines which varied in cost.</div></div><div><h3>Conclusions</h3><div>While newer treatments with improved safety profiles exist, their high cost prohibits access by many persons living with a rare disease (PLWRD), who are affected by long-term, sometimes fatal side effects of older therapies like immunosuppressants. Data is needed from low- and middle-income countries to address disparities in patient experiences. With ongoing safety monitoring, repurposing of medicines provides an important opportunity for progress toward equity for PLWRD.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"4 ","pages":"Article 100116"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145712542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Frontometaphyseal dysplasia associated with the FLNA p.G1576R variant 与FLNA p.G1576R变异相关的额干骺端发育不良

Rare Pub Date : 2025-01-01 Epub Date: 2025-04-23 DOI: 10.1016/j.rare.2025.100087

Morten Reiffenstein Huno , Trine Østergaard Nielsen , Michel Bach Hellfritzsch , Sara Markholt , Michael Davidsen , Stine Maria Lund Andersen , Sia Mariann Kjeldsen , Thomas Krusenstjerna-Hafstrøm , Stephen P. Robertson , Pernille Axél Gregersen

{"title":"Frontometaphyseal dysplasia associated with the FLNA p.G1576R variant","authors":"Morten Reiffenstein Huno , Trine Østergaard Nielsen , Michel Bach Hellfritzsch , Sara Markholt , Michael Davidsen , Stine Maria Lund Andersen , Sia Mariann Kjeldsen , Thomas Krusenstjerna-Hafstrøm , Stephen P. Robertson , Pernille Axél Gregersen","doi":"10.1016/j.rare.2025.100087","DOIUrl":"10.1016/j.rare.2025.100087","url":null,"abstract":"<div><div>This report presents a male patient with frontometaphyseal dysplasia (FMD) caused by a previously reported <em>FLNA</em> variant (NM_001456.4:c.4726G>A (p.Gly1576Arg)) that was maternally inherited. This finding directly contrasts with two previously reported observations of the same variant, which led to the suggestion that it is associated with a clinically distinct phenotype. Unlike these earlier descriptions, which did not report either signs of skeletal dysplasia or the typical facial features of FMD, the individual we report here exhibits, supraorbital hyperostosis, a skeletal dysplasia (small femoral epiphyses and bilateral pes cavus), retentio testis, reduced joint mobility, and a congenital cardiac anomaly (Ebstein anomaly). Furthermore, the previous cases documented uric acid renal stones and increased optic cup-to-disc ratio, both of which are not found in this patient. The previously reported individuals also had prominent keloid scarring, that is commonly encountered in individuals with FMD, but notably our patient exhibited hypertrophic scarring. The phenotype we report here suggests a broader phenotypic spectrum associated with this specific <em>FLNA</em> variant than previously recognized, challenging the view that it represents a separate syndrome of cardiac valvulopathy, keloid scarring, and joint mobility reduction and instead suggests it is likely best included within the spectrum of frontometaphyseal dysplasia.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100087"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143887018","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

C1q deficiency with severe skin manifestations: A case report from Pakistan C1q缺乏伴严重皮肤表现：巴基斯坦1例报告

Rare Pub Date : 2025-01-01 Epub Date: 2025-05-09 DOI: 10.1016/j.rare.2025.100093

Kashmala Hussain , Shamila Ladak , Fizza Akbar , Salman Kirmani , Sadaf Altaf

{"title":"C1q deficiency with severe skin manifestations: A case report from Pakistan","authors":"Kashmala Hussain , Shamila Ladak , Fizza Akbar , Salman Kirmani , Sadaf Altaf","doi":"10.1016/j.rare.2025.100093","DOIUrl":"10.1016/j.rare.2025.100093","url":null,"abstract":"<div><h3>Background</h3><div>C1q deficiency is a rare autosomal recessive disorder associated with increased susceptibility to infections and autoimmune diseases, notably systemic lupus erythematosus (SLE). Due to its rarity and varied presentation, there are no established guidelines for management. Due to highly variable clinical symptomatology, standard treatment approaches are lacking.</div></div><div><h3>Case presentation</h3><div>We report the case of an 11-month-old Pakistani girl presenting with a desquamating rash and recurrent infections. Initial management with multiple antibiotics and antifungals was ineffective. Upon admission to our facility, clinical and laboratory evaluations indicated severe immunodeficiency. Whole exome sequencing (WES) identified a novel homozygous likely pathogenic variant in the <em>C1qA</em> (c..474C > G, p.Tyr158*), leading to C1q deficiency. Treatment included corticosteroids, antibiotics, and fresh frozen plasma (FFP) transfusions, resulting in clinical improvement.</div></div><div><h3>Discussion</h3><div>C1q deficiency, though rare, presents with diverse clinical manifestations, primarily cutaneous and infectious. Early genetic diagnosis is essential for appropriate management. This case underscores the potential role of FFP in treating C1q deficiency, though more research is needed on its efficacy and safety.</div></div><div><h3>Conclusion</h3><div>This case emphasizes the importance of recognizing C1q deficiency in patients suspected of an underlying immunodeficiency syndrome. Clinical response to FFP infusions suggests that these patients if identified early can have control of symptoms. Early molecular diagnosis through genetic testing and tailored therapeutic approaches are crucial for improving outcomes in these patients. Further research into targeted therapies and the broader implications of C1q in health and disease is essential.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100093"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144099292","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Leukoencephalopathy, brain calcifications, and cysts (LCC): Two unique cases 脑白质病，脑钙化和囊肿（LCC）：两个独特的病例

Rare Pub Date : 2025-01-01 Epub Date: 2025-10-26 DOI: 10.1016/j.rare.2025.100112

Julia Grafstein , Yuka Aoyama , Rena Godfrey , Colleen Howe , Joshi Stephen , May Christine Malicdan , William A. Gahl , Camilo Toro

{"title":"Leukoencephalopathy, brain calcifications, and cysts (LCC): Two unique cases","authors":"Julia Grafstein , Yuka Aoyama , Rena Godfrey , Colleen Howe , Joshi Stephen , May Christine Malicdan , William A. Gahl , Camilo Toro","doi":"10.1016/j.rare.2025.100112","DOIUrl":"10.1016/j.rare.2025.100112","url":null,"abstract":"<div><div>Leukoencephalopathy with brain calcifications and cysts (LCC), also known as Labrune Syndrome, is a rare cerebral microangiopathy caused by biallelic variants in the <em>SNORD118</em> gene, which encodes the small nucleolar RNA (snoRNA) U8, a critical component of ribosome biogenesis. We present LCC cases with unusually protracted diagnostic trajectories. Case 1 had symptom onset in adolescence but remained undiagnosed until adulthood, while Case 2 had a transient occurrence of seizures in childhood and developed disabling motor symptoms in adulthood. Both were initially misdiagnosed—one with neurocysticercosis, the other with Fahr’s disease and multiple sclerosis—leading to inappropriate treatments. On evaluation, both probands exhibited asymmetrical spasticity with upper motor neuron weakness and pseudobulbar features. Genetic analyses confirmed compound heterozygous <em>SNORD118</em> variants, including a rare upstream non-coding change (n.–6G>A). Neuroimaging revealed extensive leukoencephalopathy and calcifications, with cysts present in only one case. Notably, the severity of neuroimaging abnormalities contrasted with the milder or delayed clinical manifestations, underscoring phenotypic variability and the insidious nature of the disease process. These cases expand the clinical and imaging spectrum of <em>SNORD118</em>-related LCC, highlight diagnostic pitfalls and demonstrate challenges in variant detection due to incomplete coverage or reporting of non-coding regions in exome and genome sequencing. Greater awareness of LCC and improved interrogation of non-coding RNAs through clinical sequencing are essential for timely and accurate diagnosis.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100112"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145415143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Siblings with Rett Syndrome: A fatal male case and an asymptomatic female carrier 兄弟姐妹患有Rett综合征：一名死亡男性病例和一名无症状女性携带者

Rare Pub Date : 2025-01-01 Epub Date: 2025-04-26 DOI: 10.1016/j.rare.2025.100089

José M. Lazaro-Guevara , Karen M. Garrido-Lopez

{"title":"Siblings with Rett Syndrome: A fatal male case and an asymptomatic female carrier","authors":"José M. Lazaro-Guevara , Karen M. Garrido-Lopez","doi":"10.1016/j.rare.2025.100089","DOIUrl":"10.1016/j.rare.2025.100089","url":null,"abstract":"<div><h3>Background</h3><div>Rett Syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, primarily affecting females. It was previously believed that male cases, although rare, frequently result in severe symptoms and early mortality due to hemizygosity of the X chromosome. However, recent studies show that some males with <em>MECP2</em> variants may present with a broad phenotypic spectrum, including milder forms, as well as a broader spectrum in affected females due to the effect of X-inactivation that previously was underrecognized.</div></div><div><h3>Case presentation</h3><div>We report RTT in two siblings from the same parents, both carrying a pathogenic <em>MECP2</em> mutation (c.763 C>T, p.Arg255*). The male sibling presented early hypotonia, profound developmental delays, and died in infancy. Initially presumed to be a de novo mutation, subsequent expanded genetic testing revealed the mother to be an asymptomatic carrier—likely attributable to favorable or skewed X chromosome inactivation. She had inherited this mutation neither from her father nor her mother, as both maternal grandparents tested negative. Despite two in vitro fertilization (IVF) attempts with preimplantation genetic diagnosis (PGD) in Guatemala (ultimately unsuccessful), the couple conceived naturally. Their female child, who carries the same <em>MECP2</em> mutation, remains asymptomatic at 27 months, demonstrating typical developmental milestones.</div></div><div><h3>Conclusion</h3><div>These findings underscore the broad phenotypic spectrum of RTT, with markedly different clinical outcomes—for this specific case fatal in the hemizygous male and asymptomatic in the female carrier. They also highlight critical considerations for genetic counseling, the financial and emotional challenges inherent in assisted reproductive technologies in resource-limited settings, and the importance of ongoing surveillance for carriers of <em>MECP2</em> mutations due to risk of developing subtle or late-onset features.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100089"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143891920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Realising the potential impact of artificial intelligence for rare diseases – A framework 实现人工智能对罕见疾病的潜在影响——一个框架

Rare Pub Date : 2025-01-01 Epub Date: 2024-12-19 DOI: 10.1016/j.rare.2024.100057

Tudor Groza , Chun-Hung Chan , David A. Pearce , Gareth Baynam

{"title":"Realising the potential impact of artificial intelligence for rare diseases – A framework","authors":"Tudor Groza , Chun-Hung Chan , David A. Pearce , Gareth Baynam","doi":"10.1016/j.rare.2024.100057","DOIUrl":"10.1016/j.rare.2024.100057","url":null,"abstract":"<div><div>Rare diseases (RD) are conditions affecting fewer than 1 in 2000 persons, with over 7000 largely genetic RDs affecting 3.5 %-5.9 % of the global population, or approximately 262.9–446.2 million people. The substantial healthcare burden and costs, such as the $1 trillion annual expense in the USA, highlight the urgent need for improved RD management. The International Rare Diseases Research Consortium (IRDiRC) addresses this need through global collaboration, aiming for timely and accurate diagnosis, development of 1000 new therapies, and methodologies to measure impact by 2027.</div><div>IRDiRC's initiatives include biannual meetings and workshops, like the AI-focused workshop in October 2023. This identified AI as crucial for advancing RD research and proposed a Framework for AI to enhance the RD patient journey by addressing efficiency and quality of life through modular solutions mapped to critical stages. The Framework integrates diverse data sources to improve diagnosis, treatment, and impact assessment, reflecting a holistic, cross-sector approach. By guiding multi-stakeholder efforts, the Framework aims to harness AI’s potential to significantly improve rare disease care.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100057"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143133068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Consensus recommendation for the treatment of generalised Myasthenia Gravis with anti-acetylcholine receptor antibodies (gMG AChR+) in Spain 西班牙对抗乙酰胆碱受体抗体（gMG AChR+）治疗广泛性重症肌无力的共识建议

Rare Pub Date : 2025-01-01 Epub Date: 2024-12-07 DOI: 10.1016/j.rare.2024.100051

Elena Cortés-Vicente , Raquel Hernández , Eva Martínez , Julio Pardo , Francisco Javier Rodríguez de Rivera , on behalf of the Neuromuscular Diseases Study Group (GEEN) of the Spanish Society of Neurology

引用次数: 0