scholarly journals Analysis of the Status and Tendency of R&D Input in the Field of Rare Diseases Funded by the National Natural Science Foundation of China

2021 ◽  
Vol 9 ◽  
Author(s):  
Hanyu Chang ◽  
Wei Chu ◽  
Xiaodan Li ◽  
Jing Ma ◽  
Dingguo Li ◽  
...  
Keyword(s):  
Sustainable Development ◽  
Rare Disease ◽  
Rare Diseases ◽  
Natural Science ◽  
Descriptive Analysis ◽  
Regional Distribution ◽  
Northwest China ◽  
Dynamic Changes ◽  
Balanced Development ◽  
Peking University

Background: Through collection and sorting of rare disease projects funded by the National Natural Science Foundation of China, an understanding was gained of the categories of projects funded by the foundation in the field of rare diseases, types of diseases, categories of disease systems, regional distribution, distribution of supporting institutions, and their dynamic changes, followed by an analysis of focuses and influences of relevant state policies. This will help improve the rare disease-relating policies of the state in supporting the key fields, thus promoting healthy and sustainable development in the field of rare diseases.Method: Through the website of inquiry of projects funded by the National Natural Science Foundation of China, a retrieval was made concerning the projects funded by the foundation in the field of rare diseases during the period from 1986 to 2019, followed by descriptive analysis of fund input of rare disease projects, number of projects, temporal and regional distribution, and the analysis of the law of their dynamic changes.Result: As of the end of 2019, there were 57 rare diseases and 678 related projects funded by the National Natural Science Foundation of China, with accumulated total funding of ¥ 253,525,000. Among the categories of projects, the most-funded projects were general (¥ 150,145,000, 59.22%), followed by Youth Foundation projects (¥ 53,719,000, 21.19%) and key projects (¥ 15,870,000, 6.26%); among the categories of disease systems, the most funded disease system was the nervous system (¥ 93,186,000, 37.76%), followed by the respiratory system (¥ 35,444,000, 13.98%); the most funded diseases were multiple sclerosis (¥ 34,870,000, 13.75%), idiopathic pulmonary fibrosis (¥ 29,854,000, 11.78%), and retinitis pigmentosa (¥ 27,005,000, 10.65%); the most funded regions were East China (¥ 106,987,000, 42.20%) and North China (¥ 71,844,000, 28.34%), while the least funded region was Northwest China (¥ 7,295,000, 2.88%); among the supporting institutions, the most funded institutions were Peking University (¥ 24,720,000, 9.75%), and Sun Yat-sen University (¥ 14,505,000, 5.72%).Conclusion: With the promulgation of more policies on encouragement of innovation and accelerated approval procedures, etc., the National Natural Science Foundation of China has been increasing its funding to rare diseases, covering increasingly more categories of funded projects, more types of diseases, and wider regions. Nonetheless, the support for scientific research in China is still relatively weak. Therefore, it is proposed that the healthy and sustainable development in the course of rare diseases should be promoted through the improvement of relevant rare disease policies, encouragement of R&D of medicine for rare diseases, the establishment of special funds for rare diseases, acceleration of fund circulation, and combination of balanced development and preferential funding to key regions and major diseases.

scholarly journals National Rare Diseases Registry System (NRDRS): China’s first nation-wide rare diseases demographic analyses

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Jian Guo ◽  
Peng Liu ◽  
Limeng Chen ◽  
Haohan Lv ◽  
Jie Li ◽  
...  
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Quality Care ◽  
Regional Distribution ◽  
Expert Committee ◽  
Valuable Insight ◽  
Distribution Analysis ◽  
Financial Status ◽  
Registry System ◽  
Clinical Departments

Abstract Background China has made tremendous progresses in serving the needs of its people living with rare diseases in the past decade, especially over the last 5 years. The Chinese government’s systematic approach included a series of coordinated initiatives, amongst these are: forming the Rare Disease Expert Committee (2016), funding the “Rare Diseases Cohort Study” (2016–2020), and publishing its first “Rare Disease Catalog” (2018). Herein, we present the National Rare Diseases Registry System (NRDRS)—China’s first national rare diseases registry, and the analysis of cases registered in the first 5 years ending Dec 31, 2020. Results The total 62,590 cases covered 166 disease/disease types, forming 183 disease cohorts. The data from nearly 22% of them (13,947 cases) is also linked to valuable biological samples. The average age of definitive diagnosis was 30.88 years; 36.07% of cases were under 18 years of age. Regional distribution analysis showed 60% of cases were from the more developed, wealthier East and North China, suggesting the local availability of quality care and patients’ financial status were key access factors. Finally, 82.04% of cases were registered from the five clinical departments: Neurology, Endocrine, Hematology, Cardiovascular, and Nephrology, suggesting that either these are most affected by rare diseases, or that there were disease non-specific ascertainment factors. Conclusions The preliminary analysis of the first 5-year’s data provides unique and valuable insight on rare disease distribution in China, and higlights the directions for enhancing equity, scale and utility.

scholarly journals Tuberous Sclerosis: a disease systematically monitored by the Rare Diseases Registries in Spain

2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
C Cavero Carbonell ◽  
M De La Natividad Palomares ◽  
P Botella ◽  
O Zurriaga ◽  
S Guardiola Vilarroig
Keyword(s):  
Rare Disease ◽  
Tuberous Sclerosis ◽  
Rare Diseases ◽  
Direct Method ◽  
Descriptive Analysis ◽  
Population Based ◽  
Healthcare Management ◽  
European Standard Population ◽  
Increasing Trend ◽  
Valencian Region

Abstract Background Tuberous Sclerosis (TS) is a rare genetic disease that causes hamartomas and neuropsychiatric disorders. Objective to determine the prevalence and its evolution in the Valencian Region in the period 2010-2017. Methods Through the information sources used by the Rare Disease Population-based Registry of the Valencian Region, possible cases of TS were identified with codes 759.5 (International Classification of Diseases -ICD- 9th Revision Clinical Modification version) and Q85.1 (ICD10th Revision, ICD10th Spanish version and ICD10th British Paediatric Association version). Prevalence and mortality rates per year were obtained (by the direct method, using the European Standard Population 2013) and a descriptive analysis of the sociodemographic variables of the confirmed cases was performed. Results 158 possible cases of TS were obtained, which 139 were confirmed (54.7% women and 45.3% men). The lowest prevalence was in the year 2010 with 16.0/1,000,000 (95%CI: 12.7-20.0) and the highest in 2017 with 26.5/1,000,000 (95%CI: 22.0-31.7), identifying an increasing trend along the period. Prevalence in women was higher than in men throughout the period, being in the year 2017 in women (30.3/1,000,000 (95%CI: 23.5-38.4)) and in men (22.7/1,000,000 (95%CI: 17.0-30.0)).The province with the highest prevalence was Castellón (in the north), 34.8/1,000,000 (95%CI: 20.9-55.0) in the year 2017. The median age at diagnosis was 7.2 years. The mortality rate over the period was 0.4/1,000,000 (95%CI: 0.2-0.7), being higher in men (0.5/1,000,000 (95%CI: 0.2-1.0)) than in women (0.3/1,000,000 (95%CI: 0.1-0.7)). Conclusions The prevalence obtained is lower than that estimated by Orphanet, the rare diseases reference portal, (100-500/1,000,000), being in this study the first time it is identified in the Valencian Region. The increasing trend in prevalence may be due to the low mortality of TS and it is being chronic, as well as a good healthcare management of the disease. Key messages The Tuberous Sclerosis is one of the 20 rare diseases systematically monitored by the Rare Disease IPopulation-based Registry of the Valencian Region and in the Spanish Rare Disease Registry. The obtained prevalence and mortality could be used to increase the knowledge of the Tuberous Sclerosis and as a basis for health programs and research.

scholarly journals National Rare Diseases Registry System (NRDRS) – China’s First Nation-Wide Rare Diseases Demographic Analyses

2021 ◽  
Author(s):  
Jian Guo ◽  
Peng Liu ◽  
Limeng Chen ◽  
Haohan Lv ◽  
Jie Li ◽  
...  
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Quality Care ◽  
Regional Distribution ◽  
Expert Committee ◽  
Valuable Insight ◽  
Distribution Analysis ◽  
Financial Status ◽  
Registry System ◽  
Clinical Departments

Abstract China has made remarkable broad and system wide progress in serving the needs of its people living with rare diseases, especially over the last 5 years. The Chinese government’s systematic approach included a series of coordinated initiatives, amongst these are: forming the Rare Disease Expert Committee (2016), to funding the “Rare Diseases Cohort Study” (2016–2020), and to publishing its first “Rare Disease Catalog” (2018). Herein, we present the National Rare Diseases Registry System (NRDRS), China’s first national rare diseases registry, and analysis of the cases registered in the first 5 years ending Dec 31, 2020. The total 62,590 cases covered 166 diseases/disease types, forming 183 disease cohorts. The data from nearly 22% of them (13,947 cases) is also linked to valuable biological samples. The average age of definitive diagnosis was 30.88 years; 36.07% under 18 years of age. Regional distribution analysis showed 60% of cases were from the more developed East and North China, suggesting the local availability of quality care and patients’ financial status were key access factors. Finally, 82.04% of cases were registered from the five clinical departments: Neurology, Endocrine, Hematology, Cardiovascular, and Nephrology, suggesting that either these are most affected by rare diseases, or that there were disease non-specific ascertainment factors. The preliminary analysis of the first 5-year’s data provides unique and valuable insight on rare disease distribution in China, and higlights directions for enhancing equity, scale and utility.

Small Agribusiness in Ensuring Sustainable Development of Rural Areas in Russia

2020 ◽  
pp. 38-42
Author(s):  
A.I. Chernykh ◽  
◽  
O.V. Goncharenko ◽  
Keyword(s):  
Sustainable Development ◽  
Economic Development ◽  
National Security ◽  
Rural Areas ◽  
Economic Potential ◽  
Rural Settlements ◽  
Resource Potential ◽  
Peasant Farmer ◽  
Balanced Development ◽  
Socio Economic Development

Rural settlements occupy a significant part of the territory of Russia, where about 25% of the population lives and significant natural resource potential is concentrated, but the level of their socio-economic development is significantly inferior to urban ones. Increasing depressiveness of rural areas and spatial socio-economic differentiation is a systemic problem and an obstacle to the balanced development of the national economy, reduces its competitiveness due to insufficient use of economic potential, creates challenges to the economic and national security of the state. A powerful tool for countering such trends is the formation and implementation of the potential for the development of small agribusiness, which is mainly based on households created in the form of peasant (farmer) and personal subsidiary associations. The article ana-lyzes the potential of small agribusiness development in rural areas.

Penerapan Model Pembelajaran Grup Investigation (GI) Berbantuan Vidio Pembelajaran Untuk Meningkatkan Hasil Belajar IPA

2020 ◽  
Vol 3 (1) ◽  
Author(s):  
I Ketut Hariawan
Keyword(s):  
Action Research ◽  
Learning Outcomes ◽  
Natural Science ◽  
Science Learning ◽  
Descriptive Analysis ◽  
Learning Model ◽  
Science Students ◽  
Multiple Choice Tests ◽  
Choice Tests ◽  
Academic Year

This action research aims: (1) to improve the science learning outcomes of VIIA class students in the even semester of SMP Negeri 1 Manggis in the academic year 2017/2018 by applying the learning investigation (GI) learning model assisted by learning videos. This type of research is classroom action research. The subjects of this study were 30 students in class VIIA, and the object of this study was the science learning outcomes. This action research is planned to be carried out in two cycles. Learning outcomes data were collected using multiple choice tests. Data were analyzed by descriptive analysis. The results showed that: (1) The natural science learning outcomes of the VIIA class in the second semester increased in the first cycle by an average of 70, 70% absorption, with a 50% grade completeness, and an average cycle II of 77, 77 absorption %, with 86.6% class completeness. With the achievement of an average of 77 Natural Science learning outcomes, it means that it is above the established success level of 70, so that the action is considered successful. Thus it can be said that the application of the learning investigation (GI) group learning model assisted by learning videos can improve the learning outcomes of natural science students in class VIIA an even number at SMPN 1 Manggis in the academic year 2017/2018.

scholarly journals Results of a Patient Reported Experience Measure (PREM) to measure the rare disease patients and caregivers experience: a Spanish cross-sectional study

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Mercedes Guilabert ◽  
Alba Martínez-García ◽  
Marina Sala-González ◽  
Olga Solas ◽  
José Joaquín Mira
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Healthcare Services ◽  
Paediatric Population ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Optimal Care ◽  
Cross Sectional ◽  
Patient Reported ◽  
Mean Time

Abstract Objective To measure the experience of the person having a rare disease in order to identify objectives for optimal care in the health care received by these patients. Methods. A cross-sectional study was conducted in Spain involving patients associated with the Spanish Rare Diseases Federation [Federación Española de Enfermedades Raras] (FEDER). A modified version of the PREM IEXPAC [Instrumento para evaluar la Experiencia del Paciente Crónico] instrument was used (IEXPAC-rare-diseases). Scores ranged between 0 (worst experience) and 10 (best experience). Results A total of 261 caregivers (in the case of paediatric population) and patients with rare diseases (response rate 54.4%) replied. 232 (88.9%) were adult patients and 29 (11.1%) caregivers of minor patients. Most males, 227 (87%), with an average age of 38 (SD 13.6) years. The mean time since confirmation of diagnosis was 7.8 (SD 8.0) years. The score in this PREM was 3.5 points out to 10 (95%CI 3.2–3.8, SD 2.0). Caregivers of paediatric patients scored higher, except for coordination of social and healthcare services. Conclusions There are wide and important areas for improvement in the care of patients with rare diseases. This study involves a first assesment of the experience of patients with rare diseases in Spain.

Leveraging the UMLS As a Data Standard for Rare Disease Data Normalization and Harmonization

2020 ◽  
Author(s):  
Qian Zhu ◽  
Dac-Trung Nguyen ◽  
Eric Sid ◽  
Anne Pariser
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Mendelian Inheritance ◽  
Data Normalization ◽  
Community Settings ◽  
Unified Medical Language System ◽  
Data Standard ◽  
Medical Language ◽  
Disease Concepts ◽  
High Level

Abstract Objective In this study, we aimed to evaluate the capability of the Unified Medical Language System (UMLS) as one data standard to support data normalization and harmonization of datasets that have been developed for rare diseases. Through analysis of data mappings between multiple rare disease resources and the UMLS, we propose suggested extensions of the UMLS that will enable its adoption as a global standard in rare disease. Methods We analyzed data mappings between the UMLS and existing datasets on over 7,000 rare diseases that were retrieved from four publicly accessible resources: Genetic And Rare Diseases Information Center (GARD), Orphanet, Online Mendelian Inheritance in Men (OMIM), and the Monarch Disease Ontology (MONDO). Two types of disease mappings were assessed, (1) curated mappings extracted from those four resources; and (2) established mappings generated by querying the rare disease-based integrative knowledge graph developed in the previous study. Results We found that 100% of OMIM concepts, and over 50% of concepts from GARD, MONDO, and Orphanet were normalized by the UMLS and accurately categorized into the appropriate UMLS semantic groups. We analyzed 58,636 UMLS mappings, which resulted in 3,876 UMLS concepts across these resources. Manual evaluation of a random set of 500 UMLS mappings demonstrated a high level of accuracy (99%) of developing those mappings, which consisted of 414 mappings of synonyms (82.8%), 76 are subtypes (15.2%), and five are siblings (1%). Conclusion The mapping results illustrated in this study that the UMLS was able to accurately represent rare disease concepts, and their associated information, such as genes and phenotypes, and can effectively be used to support data harmonization across existing resources developed on collecting rare disease data. We recommend the adoption of the UMLS as a data standard for rare disease to enable the existing rare disease datasets to support future applications in a clinical and community settings.

Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides–Baraitser Syndrome (SMARCA2 Mutation)—Due to a POLG1-Related Effect?

2019 ◽  
Vol 51 (01) ◽  
pp. 049-052
Author(s):  
Benedikt Hofmeister ◽  
Celina von Stülpnagel ◽  
Steffen Berweck ◽  
Angela Abicht ◽  
Gerhard Kluger ◽  
...  
Keyword(s):  
Valproic Acid ◽  
Literature Review ◽  
Rare Disease ◽  
Clinical Features ◽  
Rare Diseases ◽  
Rare Complication ◽  
Genetic Diseases ◽  
Related Effect ◽  
Higher Sensitivity ◽  
Polg1 Mutation

AbstractNicolaides–Baraitser syndrome (NCBRS) is a rare disease caused by a mutation in the SMARCA2 gene. Clinical features include craniofacial dysmorphia and abnormalities of the limbs, as well as intellectual disorder and often epilepsy. Hepatotoxicity is a rare complication of the therapy with valproic acid (VPA) and a mutation of the polymerase γ (POLG) might lead to a higher sensitivity for liver hepatotoxicity. We present a patient with the coincidence of two rare diseases, the NCBRS and additionally a POLG1 mutation in combination with a liver hepatotoxicity. The co-occurrence in children for two different genetic diseases is discussed with the help of literature review.

scholarly journals A resource to explore the discovery of rare diseases and their causative genes

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Friederike Ehrhart ◽  
Egon L. Willighagen ◽  
Martina Kutmon ◽  
Max van Hoften ◽  
Leopold M. G. Curfs ◽  
...  
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Genetic Background ◽  
Gene Discovery ◽  
Google Scholar ◽  
Semantic Model ◽  
Causative Gene ◽  
Scientific Publications ◽  
Monogenic Diseases ◽  
First Time

AbstractHere, we describe a dataset with information about monogenic, rare diseases with a known genetic background, supplemented with manually extracted provenance for the disease itself and the discovery of the underlying genetic cause. We assembled a collection of 4166 rare monogenic diseases and linked them to 3163 causative genes, annotated with OMIM and Ensembl identifiers and HGNC symbols. The PubMed identifiers of the scientific publications, which for the first time described the rare diseases, and the publications, which found the genes causing the diseases were added using information from OMIM, PubMed, Wikipedia, whonamedit.com, and Google Scholar. The data are available under CC0 license as spreadsheet and as RDF in a semantic model modified from DisGeNET, and was added to Wikidata. This dataset relies on publicly available data and publications with a PubMed identifier, but by our effort to make the data interoperable and linked, we can now analyse this data. Our analysis revealed the timeline of rare disease and causative gene discovery and links them to developments in methods.

Current Advances in Clinical Trials for Rare Disease Populations: Spotlight on the Patient

2021 ◽  
Vol 16 ◽  
Author(s):  
Erica Winter ◽  
Scott Schliebner
Keyword(s):  
Clinical Trial ◽  
Clinical Trials ◽  
Drug Development ◽  
Rare Disease ◽  
Rare Diseases ◽  
Statistical Analyses ◽  
Clinical Trial Designs ◽  
Novel Approaches

: Characterized by small, highly heterogeneous patient populations, rare disease trials magnify the challenges often encountered in traditional clinical trials. In recent years, there have been increased efforts by stakeholders to improve drug development in rare diseases through novel approaches to clinical trial designs and statistical analyses. We highlight and discuss some of the current and emerging approaches aimed at overcoming challenges in rare disease clinical trials, with a focus on the ultimate stakeholder, the patient.

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