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American Journal of Medical Genetics.... Jun 2019The subject of rare disease numbers is rife with misconceptions, not just in websites and other layman's literature, but also in the medical literature. Various websites... (Meta-Analysis)
Meta-Analysis Review
The subject of rare disease numbers is rife with misconceptions, not just in websites and other layman's literature, but also in the medical literature. Various websites mention numbers that are not validated by any solid data, while in turn the medical literature cites the aforementioned websites as sources, thus perpetuating a number of myths about rare diseases and their burden. We review the existing literature on rare disease numbers, in an attempt to demystify the subject. Specifically, we summarize data pertaining to: (a) known number and cumulative prevalence of rare diseases; (b) rare disease-associated mortality; (c) rare disease-associated morbidity, including numbers on health care services related to rare diseases; and (d) orphan drug numbers.
Topics: Delivery of Health Care; Humans; Morbidity; Mortality; Orphan Drug Production; Population Surveillance; Prevalence; Rare Diseases
PubMed: 30883013
DOI: 10.1002/ajmg.a.61124 -
Nature Reviews. Drug Discovery Feb 2020A lack of robust knowledge of the number of rare diseases and the number of people affected by them limits the development of approaches to ameliorate the substantial...
A lack of robust knowledge of the number of rare diseases and the number of people affected by them limits the development of approaches to ameliorate the substantial cumulative burden of rare diseases. Here, we call for coordinated efforts to more precisely define rare diseases.
Topics: Humans; Phenotype; Rare Diseases
PubMed: 32020066
DOI: 10.1038/d41573-019-00180-y -
International Journal of Molecular... Jan 2021There is no single global definition of a rare disease, and for different geographical areas the definition is based on the disease occurrence in that population [...].
There is no single global definition of a rare disease, and for different geographical areas the definition is based on the disease occurrence in that population [...].
Topics: Biomarkers; Disease Management; Disease Susceptibility; Humans; Rare Diseases
PubMed: 33445477
DOI: 10.3390/ijms22020673 -
Advances in Experimental Medicine and... 2017The immune system is delegated to defend the body from attacks from outside or inside. Many diseases can affect immune system reducing its ability to defend self or... (Review)
Review
The immune system is delegated to defend the body from attacks from outside or inside. Many diseases can affect immune system reducing its ability to defend self or inducing an abnormal response against external or internal antigens. Rare diseases affecting immune system present some issue in common with other rare diseases and some peculiarities due to the huge variability in the disease's expression. However, a correct estimation of the epidemiology of rare disorders is necessary for evaluating the prognosis and the responses to new therapies, for planning proper public health services, and finally to establish fair and sustainable prices for innovative medicines. Due to the enormous number of different rare immunological diseases, in this chapter we are going to analyse some of them that can be considered paradigmatic of the various expressions of disease.
Topics: Humans; Immune System; Immune System Diseases; Prognosis; Rare Diseases; Risk Factors
PubMed: 29214588
DOI: 10.1007/978-3-319-67144-4_26 -
The Lancet. Neurology Mar 2022
Topics: Humans; Rare Diseases
PubMed: 35182497
DOI: 10.1016/S1474-4422(22)00046-1 -
Fortschritte Der Neurologie-Psychiatrie Apr 2023
Topics: Humans; Rare Diseases
PubMed: 37055012
DOI: 10.1055/a-2022-4203 -
Laryngo- Rhino- Otologie Apr 2021This review article covers data on rare diseases of the larynx, the trachea and the thyroid. In particular, congenital malformations, rare manifestations of inflammatory... (Review)
Review
This review article covers data on rare diseases of the larynx, the trachea and the thyroid. In particular, congenital malformations, rare manifestations of inflammatory laryngeal disorders, benign and malignant epithelial as well as non-epithelial tumors, laryngeal and tracheal manifestations of general diseases and, finally, thyroid disorders are discussed. The individual chapters contain an overview of the data situation in the literature, the clinical appearance of each disorder, important key points for diagnosis and therapy and a statement on the prognosis of the disease. Finally, the authors indicate on study registers and self-help groups.
Topics: Humans; Laryngeal Diseases; Larynx; Rare Diseases; Thyroid Gland; Trachea
PubMed: 34352904
DOI: 10.1055/a-1337-5703 -
European Journal of Human Genetics :... Sep 2021
Topics: Europe; Genetic Diseases, Inborn; Genetic Testing; Humans; Rare Diseases
PubMed: 34140650
DOI: 10.1038/s41431-021-00924-8 -
Indian Journal of Ophthalmology Jul 2022The prevalence of rare diseases has been estimated to be around 6%-8%, most of which are genetic in origin. Rare eye diseases constitute a critical public health... (Review)
Review
The prevalence of rare diseases has been estimated to be around 6%-8%, most of which are genetic in origin. Rare eye diseases constitute a critical public health concern. The major concerns for people suffering from these conditions are diagnosis, treatment, rehabilitation, limited resources, and health infrastructure. Also, as the number of people suffering from these disorders is less, it becomes difficult to study the epidemiological distribution and natural course of the disease. Thus, there is a need to establish registries for such rare disorders. This will help in creating a database of those suffering from rare eye diseases and will prove advantageous for both the patients and the researchers. For patients, it will be helpful as it will provide them will access to families suffering from similar problems, provide rehabilitation services, and provide access to clinical trials working on the development of new treatments for these rare disorders. From the researchers' point of view, it will be beneficial for them as they will then have access to a pool of data that can be used as a starting point of research on these rare disorders. At present, very few registries exist around the world and none in India. A systematic review of registries for rare eye diseases on Google and PubMed was done for existing registries, their methodology, services provided, applications, and advantages.
Topics: Eye Diseases; Humans; India; Public Health; Rare Diseases; Registries
PubMed: 35791100
DOI: 10.4103/ijo.IJO_302_22 -
Advances in Experimental Medicine and... 2017More than 600 human disorders afflict the nervous system. Of these, neurodegenerative diseases are usually characterised by onset in late adulthood, progressive clinical... (Review)
Review
More than 600 human disorders afflict the nervous system. Of these, neurodegenerative diseases are usually characterised by onset in late adulthood, progressive clinical course, and neuronal loss with regional specificity in the central nervous system. They include Alzheimer's disease and other less frequent dementias, brain cancer, degenerative nerve diseases, encephalitis, epilepsy, genetic brain disorders, head and brain malformations, hydrocephalus, stroke, Parkinson's disease, multiple sclerosis, amyotrophic lateral sclerosis (ALS or Lou Gehrig's Disease), Huntington's disease, and Prion diseases, among others. Neurodegeneration usually affects, but is not limited to, the cerebral cortex, intracranial white matter, basal ganglia, thalamus, hypothalamus, brain stem, and cerebellum. Although the majority of neurodegenerative diseases are sporadic, Mendelian inheritance is well documented. Intriguingly, the clinical presentations and neuropathological findings in inherited neurodegenerative forms are often indistinguishable from those of sporadic cases, suggesting that converging genomic signatures and pathophysiologic mechanisms underlie both hereditary and sporadic neurodegenerative diseases. Unfortunately, effective therapies for these diseases are scarce to non-existent. In this chapter, we highlight the clinical and genetic features associated with the rare inherited forms of neurodegenerative diseases, including ataxias, multiple system atrophy, spastic paraplegias, Parkinson's disease, dementias, motor neuron diseases, and rare metabolic disorders.
Topics: DNA Mutational Analysis; Genetic Markers; Genetic Predisposition to Disease; Genomics; Heredity; Humans; Mutation; Neurodegenerative Diseases; Phenotype; Predictive Value of Tests; Prognosis; Rare Diseases; Risk Factors
PubMed: 29214587
DOI: 10.1007/978-3-319-67144-4_25