Relevant bibliographies by topics / Rare diseases

Contents

  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'Rare diseases'

Author: Grafiati
Published: 4 June 2021
Last updated: 25 July 2025

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Journal articles on the topic "Rare diseases"

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Jones, Lyn H. "Rare diseases." Future Medicinal Chemistry 6, no. 9 (2014): 969–70. http://dx.doi.org/10.4155/fmc.14.59.

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Lewis, Terri A. "Rare Diseases." Neurology Now 8, no. 3 (2012): 12. http://dx.doi.org/10.1097/01222928-201208030-00007.

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ROBERTS;, C. M., A. E. TATTERSFIELD, and R. M. DU BOIS. "Rare diseases." Thorax 54, no. 12 (1999): 1140. http://dx.doi.org/10.1136/thx.54.12.1140b.

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Winter, George. "Rare diseases." Journal of Prescribing Practice 6, no. 4 (2024): 152–53. http://dx.doi.org/10.12968/jprp.2024.6.4.152.

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The Lancet Neurology. "Rare advances for rare diseases." Lancet Neurology 16, no. 1 (2017): 1. http://dx.doi.org/10.1016/s1474-4422(16)30352-0.

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Anderson, Chris. "Rare Parents Tackling Rare Diseases." Inside Precision Medicine 9, S1 (2022): 6–13. http://dx.doi.org/10.1089/ipm.09.s1.02.

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Başaran, Özge, Yelda Bilginer, and Seza Özen. "Rare Autoinflammatory Diseases." Turkish Archives of Pediatrics 57, no. 1 (2021): 18–25. http://dx.doi.org/10.5152/turkarchpediatr.2022.21303.

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Limongelli, Giuseppe, Emanuele Monda, Michele Lioncino, and Eduardo Bossone. "Rare Cardiovascular Diseases." Heart Failure Clinics 18, no. 1 (2022): i. http://dx.doi.org/10.1016/s1551-7136(21)00101-x.

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Podolec, Piotr. "Rare cardiovascular diseases." European Heart Journal 38, no. 43 (2017): 3190–92. http://dx.doi.org/10.1093/eurheartj/ehx611.

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Sburlan, Elena Angelica, Liliana-Mary Voinea, Cristina Alexandrescu, et al. "Rare ophthalmology diseases." romanian journal of ophthalmology 63, no. 1 (2019): 10–14. http://dx.doi.org/10.22336/rjo.2019.3.

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Dissertations / Theses on the topic "Rare diseases"

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Bhatia, Gaurav. "Rare variant analysis for common diseases." Diss., [La Jolla] : University of California, San Diego, 2009. http://wwwlib.umi.com/cr/ucsd/fullcit?p1467448.

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Thesis (M.S.)--University of California, San Diego, 2009.<br>Title from first page of PDF file (viewed August 25, 2009). Available via ProQuest Digital Dissertations. Includes bibliographical references (p. 20-23).
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Naili, Abdallah. "A Multi Criteria Approach for The Assessment of Drugs for Rare Diseases." Thesis, Université d'Ottawa / University of Ottawa, 2016. http://hdl.handle.net/10393/35067.

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Evaluating Drugs for Rare Diseases (DRDs) for the purpose of reimbursement and beyond represents a tremendous challenge for most health care priorities. A consensus is set about the irrelevance of cost e ectiveness analysis to evaluate such drugs. The appeal for multi criteria decision aid models seems reasonable as the evaluation of DRDs is indeed multifaceted. However, the application of MCDA for the purpose of evaluating DRDs is yet primitive and simplistic. The present work tries to tackle the issue of evaluating DRDs from a decision maker angle by adopting an innovative robust ord
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Bayar, Mohamed Amine. "Randomized Clinical Trials in Oncology with Rare Diseases or Rare Biomarker-based Subtypes." Thesis, Université Paris-Saclay (ComUE), 2019. http://www.theses.fr/2019SACLS441.

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Le design standard des essais randomisés de phase III suppose le recrutement d'un grand nombre de patients pour assurer un risque α de 0.025 unilatéral et une puissance d'au moins 80%. Ceci s'avérer difficile dans les maladies rares, ou encore si le traitement cible une population spécifique définie par un sous-type moléculaire rare. Nous avons évalué par simulation la performance d'une série d'essais randomisés. Au terme de chaque essai, s'il est associé à une amélioration significative, le traitement expérimental devient le contrôle de l'essai suivant. Les designs ont été évalués pour différ
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Pepler, A. "Identification of novel disease-causing variants in rare diseases using trio exome sequencing." Thesis, University College London (University of London), 2017. http://discovery.ucl.ac.uk/1565182/.

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The use of trio exome next-generation sequencing (NGS), an analysis of the entire complement of coding exons within an affected index patient and unaffected parents, is increasingly being utilised in the analysis of patients with congenital diseases. This thesis describes the use of trio exome sequencing in the analysis of three distinct circumstances. First, the analysis of a cohort of eight trios in which the index patients suffer from startle disease, characterized by dysfunction of inhibitory glycinergic synapses. This revealed a single case of allelic drop-out of a known GLRA1 p.Y307C var
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McElvenny, D. M. "Meta-analysis of rare diseases in occupational epidemiology." Thesis, London School of Hygiene and Tropical Medicine (University of London), 2017. http://researchonline.lshtm.ac.uk/3894558/.

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At the outset of this research in the early 2000s, the application of meta-analysis in observational epidemiology, including occupational epidemiology was regarded as controversial because of the greater potential for bias in such studies compared with randomized controlled clinical trials. This remains true even in 2017. The overall aim for this research is to identify the best approaches to the use of meta-analysis in the occupational health setting, and to summarise through meta-analysis the evidence at to whether or not occupational exposure to formaldehyde is an occupational carcinogen. C
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Greene, Daniel John. "Methods for determining the genetic causes of rare diseases." Thesis, University of Cambridge, 2018. https://www.repository.cam.ac.uk/handle/1810/270546.

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Thanks to the affordability of DNA sequencing, hundreds of thousands of individuals with rare disorders are undergoing whole-genome sequencing in an effort to reveal novel disease aetiologies, increase our understanding of biological processes and improve patient care. However, the power to discover the genetic causes of many unexplained rare diseases is hindered by a paucity of cases with a shared molecular aetiology. This thesis presents research into statistical and computational methods for determining the genetic causes of rare diseases. Methods described herein treat important aspects of
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Ndungu, Anne. "Rare genetic variants and susceptibility to severe bacterial diseases." Thesis, University of Oxford, 2015. https://ora.ox.ac.uk/objects/uuid:9c5745f9-50f9-469a-8771-2e49e75db7ac.

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Infectious diseases are a major cause of morbidity and mortality worldwide. Streptococcus pneumoniae and Neisseria meningitidis are major causes of severe bacterial disease which can manifest as invasive disease such as bacteraemia and meningitis. Exposure to these pathogens is relatively widespread, yet only a minority of individuals develop invasive disease. A host genetic component to infectious disease susceptibility has been implied from twin and adoptee studies. A role for rare large effect genetic variants in predisposition to infection has been demonstrated through the study of individ
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Gopalakrishna-Remani, Venugopal. "Information Supply Chain System for Managing Rare Infectious Diseases." Kent State University / OhioLINK, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=kent1341245050.

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BOTTANI, EMANUELA. "Mitochondrial diseases: from gene function to therapy." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2015. http://hdl.handle.net/10281/94380.

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Le malattie mitocondriali sono disturbi genetici caratterizzati da difetti di fosforilazione ossidativa causati da mutazioni nel DNA mitocondriale, o in geni nucleari i cui prodotti sono legati alla fosforilazione ossidativa o alla biologia mitocondriale. La prima parte del progetto è stata focalizzata sulla generazione e la caratterizzazione di un modello murino di malattia mitocondriale, Ttc19ko. I pazienti con mutazioni in TTC19 sviluppano danni neurologici e deficit di complesso III. Ttc19 è una proteina mitocondriale che sembra essere coinvolta nell’assemblaggio e/o stabilità del compless
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Li, Yali. "DETECTING ASSOCIATION OF COMMON AND RARE VARIANTS WITH COMPLEX DISEASES." Case Western Reserve University School of Graduate Studies / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=case1270176845.

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Books on the topic "Rare diseases"

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Özgüç, Meral, ed. Rare Diseases. Springer Netherlands, 2015. http://dx.doi.org/10.1007/978-94-017-9214-1.

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Posada de la Paz, Manuel, and Stephen C. Groft, eds. Rare Diseases Epidemiology. Springer Netherlands, 2010. http://dx.doi.org/10.1007/978-90-481-9485-8.

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Cherian, Sujith V., and Anupam Kumar. Rare Lung Diseases. CRC Press, 2023. http://dx.doi.org/10.1201/9781003089384.

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Stub, Sara Toth. Conquering Rare Diseases. CQ Press, 2020. http://dx.doi.org/10.4135/cqresrre20200124.

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Valverde, José Luis. Rare diseases: Focus on rare plasma related disorders. IOS Press, 2009.

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Pryde, David C., and Michael J. Palmer, eds. Orphan Drugs and Rare Diseases. Royal Society of Chemistry, 2014. http://dx.doi.org/10.1039/9781782624202.

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Martín, Javier, and Francisco David Carmona, eds. Genetics of Rare Autoimmune Diseases. Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-03934-9.

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Yang, Bo, Yang Song, and Yijie Zhou. Drug Development for Rare Diseases. Chapman and Hall/CRC, 2023. http://dx.doi.org/10.1201/9781003080954.

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US GOVERNMENT. Rare Diseases Act of 2002. U.S. G.P.O., 2002.

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Crompton, Helen P. Rare diseases and orphan medical products. Manchester Metropolitan University, Business School, 2002.

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Book chapters on the topic "Rare diseases"

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Castro, Raquel, Juliette Senecat, Myriam de Chalendar, et al. "Rare Diseases." In Handbook Integrated Care. Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-56103-5_25.

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Nahler, Gerhard. "rare diseases." In Dictionary of Pharmaceutical Medicine. Springer Vienna, 2009. http://dx.doi.org/10.1007/978-3-211-89836-9_1185.

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Maconi, Giovanni, Elena Bolzacchini, and Cristina Bezzio. "Rare Diseases." In Imaging of Perianal Inflammatory Diseases. Springer Milan, 2013. http://dx.doi.org/10.1007/978-88-470-2847-0_16.

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Tonolini, Massimo. "Rare Diseases." In Imaging of Perianal Inflammatory Diseases. Springer Milan, 2013. http://dx.doi.org/10.1007/978-88-470-2847-0_27.

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Castro, Raquel, Myriam de Chalendar, Ildikó Vajda, et al. "Rare Diseases." In Handbook Integrated Care. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-69262-9_44.

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Gündoğdu Öğütlü, Özge Beyza. "Rare Diseases." In The Palgrave Encyclopedia of Disability. Springer Nature Switzerland, 2025. https://doi.org/10.1007/978-3-031-40858-8_425-1.

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Zeps, Nikolajs, and Chris Hemmings. "Rare Cancers." In Rare Diseases. Springer Netherlands, 2014. http://dx.doi.org/10.1007/978-94-017-9214-1_8.

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Ferrari, Camilla, Benedetta Nacmias, and Sandro Sorbi. "Rare Dementias." In Neurodegenerative Diseases. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-72938-1_15.

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Molnar, Maria Judit, and Klara Pentelenyi. "Mitochondrial Diseases." In Rare Diseases. Springer Netherlands, 2014. http://dx.doi.org/10.1007/978-94-017-9214-1_5.

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Taruscio, Domenica, Amalia Egle Gentile, Marta De Santis, et al. "National Plans on Rare Diseases." In Rare Diseases. Springer Netherlands, 2014. http://dx.doi.org/10.1007/978-94-017-9214-1_1.

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Conference papers on the topic "Rare diseases"

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Araya, David, Javier Márquez, Nicole Nakousi, and Carla Taramasco. "Bayesian Network to Support Diagnosis of Rare Diseases in Chile." In 2024 L Latin American Computer Conference (CLEI). IEEE, 2024. http://dx.doi.org/10.1109/clei64178.2024.10700061.

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Novaković, Ivana, Milena Janković, Ana Marjanović, Marija Branković, Marina Svetel, and Jasna Jančić. "Challenges in rare diseases: The example of mitochondrial diseases." In Proceedings of the International Congress Public Health - Achievements and Challenges. Institute of Public Health of Serbia "Dr Milan Jovanović Batut", 2024. http://dx.doi.org/10.5937/batutphco24114n.

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Background: Mitochondrial diseases are a group of disorders caused by dysfunction of mitochondria - the organelles that generate energy for the cell by converting the energy of food molecules into the ATP that powers most cell functions. Mitochondrial diseases are one of the most common groups of rare diseases with a minimum prevalence of greater than 1 in 5000 in adults. Clinical manifestations of mitochondrial diseases are heterogonous, mostly affecting nervous and muscle systems and sensory organs; symptoms can appear at birth or they may not appear until adulthood These diseases have genet
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Schriml, Lynn M., and J. Allen Baron. "Etiology context of rare diseases in the Human Disease Ontology." In 2021 IEEE International Conference on Bioinformatics and Biomedicine (BIBM). IEEE, 2021. http://dx.doi.org/10.1109/bibm52615.2021.9669517.

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Reumann, Matthias, Andrea Giovannini, Bartosz Nadworny, Christoph Auer, Ivan Girardi, and Chiara Marchiori. "Cognitive DDx Assistant in Rare Diseases." In 2018 40th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC). IEEE, 2018. http://dx.doi.org/10.1109/embc.2018.8513041.

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"COLLABORATIVE IT PLATFORM FOR RARE DISEASES." In International Conference on Health Informatics. SciTePress - Science and and Technology Publications, 2011. http://dx.doi.org/10.5220/0003171003090314.

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Neff, Michaela Christina, Jannik Schaaf, Jörg Scheidt, Andreas Khouri, Thomas Zerr, and Holger Storf. "SelEe- Rare diseases citizen science research." In Austrian Citizen Science Conference 2022. Sissa Medialab, 2023. http://dx.doi.org/10.22323/1.407.0024.

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Taylor, Stephen, and Aditi Kantipuly. "Demo: Sonic Catalog of Rare Diseases." In FARM '23: 11th ACM SIGPLAN International Workshop on Functional Art, Music, Modelling, and Design. ACM, 2023. http://dx.doi.org/10.1145/3609023.3609807.

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Rant, Živa, Urh Grošelj, and Dalibor Stanimirović. "Metodologija izgradnje registra redkih nemalignih bolezni v Sloveniji." In Interdisciplinarity Counts. University of Maribor, University Press, 2023. http://dx.doi.org/10.18690/um.fov.3.2023.70.

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A rare disease is a disease that affects 5 or fewer people per 10,000 population. There are between 6000 and 8000 different rare diseases. There are approximately 150,000 rare disease patients in Slovenia. There is no accurate data, which is a major health problem. We will tackle the problem by building a registry of rare non-malignant diseases that will provide reliable data on incidence and prevalence, natural history and characteristics of the disease, which will form the basis for the management of rare diseases in the health system. We used a system development life cycle methodology, whi
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Miljuš, Dragan, Snežana Plavšić, Ivana Rakočević, Snežana Živković-Perišić, Nataša Mickovski-Katalina, and Zorica Božić. "Leading groups of rare diseases by age in the Republic of Serbia, 2013-2022." In Proceedings of the International Congress Public Health - Achievements and Challenges. Institute of Public Health of Serbia "Dr Milan Jovanović Batut", 2024. http://dx.doi.org/10.5937/batutphco24218m.

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Background: Rare diseases are a heterogeneous group of approximately 7,000 diseases, which have a common feature of low frequency. According to the definition of the European Commission, rare diseases occur in a maximum of five out of 10,000 people in the general population. Methods and Objectives: In order to analyze the leading rare diseases by age, data from the Register of persons suffering from rare diseases in Serbia for the period 2013-2022 were analyzed. Absolute distributions and proportions of patients with rare diseases were used. Results: Based on the data of the register of person
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Sacco, Giovanni Maria. "e-RARE: Interactive Diagnostic Assistance for Rare Diseases through Dynamic Taxonomies." In 2008 19th International Conference on Database and Expert Systems Applications (DEXA). IEEE, 2008. http://dx.doi.org/10.1109/dexa.2008.61.

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Reports on the topic "Rare diseases"

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swift, evo. Rare Diseases in Southeast Asia: Definition of Rare disease. ResearchHub Technologies, Inc., 2025. https://doi.org/10.55277/researchhub.o5ed1hmh.

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Dubief, Jessie, Anna Kole, Erwan Berjonneau, and Sandra Courbier. Rare disease patients’ opinion on the future of rare diseases. EURORDIS-Rare Diseases Europe, 2021. https://doi.org/10.70790/pwor1849.

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Bainbridge, Kath. Rare Diseases Research Landscape Project Report. National Institute for Health and Care Research, 2023. http://dx.doi.org/10.3310/nihropenres.1115214.1.

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Courbier, Sandra, and Erwan Berjonneau. Juggling care and daily life: The balancing act of the rare disease community. EURORDIS - Rare Diseases Europe, 2017. https://doi.org/10.70790/gjrs4859.

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Over 3,000 people living with a rare disease across Europe responded to the Rare Barometer survey ‘Juggling care and daily life: The balancing act of the rare disease community’, which was conducted in the scope of the EU-funded INNOVCare project, focused on promoting person-centred care for rare diseases.
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Sandra, Courbier. Access to treatment: unequal care for European rare disease patients. A Rare Barometer survey. EURORDIS-Rare Diseases Europe, 2017. https://doi.org/10.70790/kody7492.

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This report presents the results of the 2017 Rare Barometer survey on rare disease patients’ access to treatment. 1,350 people living with a rare disease and family members participated in this survey. Only a very small number of rare diseases have curative treatment, but what is the level of access for existing rare disease treatments, either symptomatic or disease-modifying? Does it really differ from the general population? 1350 Rare Barometer participants told us about their access to treatments, and over a period of 12 months: - 24% of them did not get the medical treatment they needed ov
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Castillo Esparcia, A., P. López Villafranca, and MC Carretón Ballester. Online communication of patients with rare diseases in Spain. Revista Latina de Comunicación Social, 2015. http://dx.doi.org/10.4185/rlcs-2015-1065en.

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Kidwell, Kelley M., Roy N. Tamura, Thomas M. Braun, Boxian Wei, Yan-Cheng Chao, and Holly Hartman. Improving Trial Design and Analysis for Treatments for Rare Diseases. Patient-Centered Outcomes Research Institute (PCORI), 2020. http://dx.doi.org/10.25302/11.2020.me.150731108.

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Faye, Fatoumata, Raquel Castro, and Jessie Dubief. The impact of living with a rare disease: barriers and enablers of independent living and social participation. EURORDIS-Rare Diseases Europe, 2025. https://doi.org/10.70790/pdir1346.

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This report presents the results of a Rare Barometer survey conducted between July and September 2024 among 9591 people living with rare diseases and their family members: (i) 8/10 participants live with disabilities, and a majority live with diverse and complex disabilities; (ii) their disabilities are not adequately recognised; (iii) most of them found it difficult or very difficult to obtain publicly funded support; (iv) most of them experienced discrimination related to the rare disease or disability; (v) 23% are unemployed, while the unemployment rate in the general population of the Euro
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Dubief, Jessie, Edith Sky Gross, and Fatoumata Faye. Voices on newborn screening: the opinion of people living with a rare disease. EURORDIS - Rare Diseases Europe, 2024. http://dx.doi.org/10.70790/nlmc2114.

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This report presents the European results of the survey ‘Voices on newborn screening: the opinion of people living with a rare disease’, conducted by Rare Barometer within the framework of the European Screen4Care research project. This study gathered the views of more than 6,179 people living with a rare disease and family members worldwide, 5,569 of whom were living in Europe with more than 1,300 distinct rare diseases, hence representing the diversity of the rare disease community. Respondents’ answers confirm the strong support for newborn screening from the rare disease community. They al
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Lichtenberg, Frank. The Effect of New Drugs on Mortality from Rare Diseases and HIV. National Bureau of Economic Research, 2001. http://dx.doi.org/10.3386/w8677.

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