scholarly journals Introductory Chapter: Rare Diseases - Ending the Diagnostic Odyssey and Beginning the Therapeutic Odyssey

2021 ◽  
Author(s):  
Mani T. Valarmathi
Keyword(s):  
Rare Diseases ◽  
Diagnostic Odyssey

scholarly journals Precision Medicine in Rare Diseases

Diseases ◽  
2020 ◽  
Vol 8 (4) ◽  
pp. 42
Author(s):  
Irene Villalón-García ◽  
Mónica Álvarez-Córdoba ◽  
Juan Miguel Suárez-Rivero ◽  
Suleva Povea-Cabello ◽  
Marta Talaverón-Rey ◽  
...  
Keyword(s):  
Personalized Medicine ◽  
Rare Diseases ◽  
Scientific Community ◽  
Genetic Diagnosis ◽  
World Health ◽  
Diagnostic Odyssey ◽  
The World ◽  
Pharmacological Screening ◽  
Health Organization ◽  
Low Prevalence

Rare diseases are those that have a low prevalence in the population (less than 5 individuals per 10,000 inhabitants). However, infrequent pathologies affect a large number of people, since according to the World Health Organization (WHO), there are about 7000 rare diseases that affect 7% of the world’s population. Many patients with rare diseases have suffered the consequences of what is called the diagnostic odyssey, that is, extensive and prolonged serial tests and clinical visits, sometimes for many years, all with the hope of identifying the etiology of their disease. For patients with rare diseases, obtaining the genetic diagnosis can mean the end of the diagnostic odyssey, and the beginning of another, the therapeutic odyssey. This scenario is especially challenging for the scientific community, since more than 90% of rare diseases do not currently have an effective treatment. This therapeutic failure in rare diseases means that new approaches are necessary. Our research group proposes that the use of precision or personalized medicine techniques can be an alternative to find potential therapies in these diseases. To this end, we propose that patients’ own cells can be used to carry out personalized pharmacological screening for the identification of potential treatments.

scholarly journals Ending diagnostic odyssey using clinical whole-exome sequencing (CWES)

2021 ◽  
Vol 45 (6) ◽  
pp. 259-266
Author(s):  
Ching-Wan Lam
Keyword(s):  
Hong Kong ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Rare Diseases ◽  
Genetic Diseases ◽  
Definitive Diagnosis ◽  
Diagnostic Odyssey ◽  
Essential Tool ◽  
Whole Exome ◽  
Undiagnosed Diseases

Abstract Objectives Most rare diseases are genetic diseases. Due to the diversity of rare diseases and the high likelihood of patients with rare diseases to be undiagnosed or misdiagnosed, it is not unusual that these patients undergo a long diagnostic odyssey before they receive a definitive diagnosis. This situation presents a clear need to set up a dedicated clinical service to end the diagnostic odyssey of patients with rare diseases. Methods Therefore, in 2014, we started an Undiagnosed Diseases Program in Hong Kong with the aim of ending the diagnostic odyssey of patients and families with rare diseases by clinical whole-exome sequencing (CWES), who have not received a definitive diagnosis after extensive investigation. Results In this program, we have shown that genetic diseases diagnosed by CWES were different from that using traditional approaches indicating that CWES is an essential tool to diagnose rare diseases and ending diagnostic odysseys. In addition, we identified several novel genes responsible for monogenic diseases. These include the TOP2B gene for autism spectrum disorder, the DTYMK gene for severe cerebral atrophy, the KIF13A gene for a new mosaic ectodermal syndrome associated with hypomelanosis of Ito, and the CDC25B gene for a new syndrome of cardiomyopathy and endocrinopathy. Conclusions With the incorporation of CWES in an Undiagnosed Diseases Program, we have ended diagnostic odysseys of patients with rare diseases in Hong Kong in the past 7 years. In this program, we have shown that CWES is an essential tool to end diagnostic odysseys. With the declining cost of next-generation sequencers and reagents, CWES set-ups are now affordable for clinical laboratories. Indeed, owing to the increasing availability of CWES and treatment modalities for rare diseases, precedence can be given to both common and rare medical conditions.

The Collaborative Network Approach: a model for advancing patient-centric research for Castleman disease and other rare diseases

2019 ◽  
Vol 3 (1) ◽  
pp. 97-105
Author(s):  
Mary Zuccato ◽  
Dustin Shilling ◽  
David C. Fajgenbaum
Keyword(s):  
Rare Diseases ◽  
Treatment Options ◽  
Castleman Disease ◽  
High Impact ◽  
Collaborative Network ◽  
Network Approach ◽  
Grant Applications ◽  
Research Questions ◽  
Novel Strategy ◽  
Patient Centric

Abstract There are ∼7000 rare diseases affecting 30 000 000 individuals in the U.S.A. 95% of these rare diseases do not have a single Food and Drug Administration-approved therapy. Relatively, limited progress has been made to develop new or repurpose existing therapies for these disorders, in part because traditional funding models are not as effective when applied to rare diseases. Due to the suboptimal research infrastructure and treatment options for Castleman disease, the Castleman Disease Collaborative Network (CDCN), founded in 2012, spearheaded a novel strategy for advancing biomedical research, the ‘Collaborative Network Approach’. At its heart, the Collaborative Network Approach leverages and integrates the entire community of stakeholders — patients, physicians and researchers — to identify and prioritize high-impact research questions. It then recruits the most qualified researchers to conduct these studies. In parallel, patients are empowered to fight back by supporting research through fundraising and providing their biospecimens and clinical data. This approach democratizes research, allowing the entire community to identify the most clinically relevant and pressing questions; any idea can be translated into a study rather than limiting research to the ideas proposed by researchers in grant applications. Preliminary results from the CDCN and other organizations that have followed its Collaborative Network Approach suggest that this model is generalizable across rare diseases.

Health care needs of patients with rare diseases

2004 ◽  
Author(s):  
R. M. A. van Nispen ◽  
P. M. Rijken ◽  
M. J. W. M. Heijmans
Keyword(s):  
Health Care ◽  
Rare Diseases ◽  
Health Care Needs ◽  
Care Needs

P 956. Next-Generation Sequencing in Patient Care—Arrived or Rejected in Rare Diseases?

2018 ◽  
Author(s):  
Angela Abicht ◽  
Teresa Neuhann ◽  
Stefanie Balg ◽  
Daniela Gonzalez-Fassreiner ◽  
Verena Steinke-Lange ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Patient Care ◽  
Rare Diseases ◽  
Next Generation ◽  
Generation Sequencing

Introduction: Plato’s Nightmare

2018 ◽  
Author(s):  
John Marmysz
Keyword(s):  
Immanuel Kant ◽  
Martin Heidegger ◽  
Friedrich Nietzsche ◽  
Objective Reality

This introductory chapter examines the “problem” of nihilism, beginning with its philosophical origins in the ideas of Plato, Immanuel Kant, Friedrich Nietzsche and Martin Heidegger. It is argued that film is an inherently nihilistic medium involving the evocation of illusory worlds cut loose from objective reality. This nihilism of film is distinguished from nihilism in film; the nihilistic content also present in some (but not all) movies. Criticisms of media nihilism by authors such as Thomas Hibbs and Darren Ambrose are examined. It is then argued, contrary to such critics, that cinematic nihilism is not necessarily degrading or destructive. Because the nihilism of film encourages audiences to linger in the presence of nihilism in film, cinematic nihilism potentially trains audiences to learn the positive lessons of nihilism while remaining safely detached from the sorts of dangers depicted on screen.

Introduction: Exploring Russian nationalisms

2018 ◽  
Author(s):  
Pål Kolstø ◽  
Helge Blakkisrud
Keyword(s):  
The State ◽  
Complex Interplay ◽  
Recent Developments ◽  
Part Structure

Russian societal nationalism comes in various guises, both ethnic and imperialist. Also Putin’s rhetoric is marked by the tensions between ethnic and state-focused, imperialist thinking. Noting the complex interplay of state nationalism and societal nationalism, this introductory chapter examines the mental framework within which Russian politicians were acting prior to the decision to annex Crimea. The chapter develops a typology of Russian nationalisms, surveys recent developments, and presents the three-part structure of this book: official nationalism, radical and other societal nationalisms, and identities/otherings. It concludes that after the annexation of Crimea, when the state took over the agenda of both ethnic and imperialist nationalists in Russia, societal nationalism finds itself at low ebb.

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