Information about Rare Disease
A rare disease (sometimes known as an orphan disease) has such a low prevalence in a population that a doctor in a busy general practice would not expect to see more than one case a year. Rare diseases, including those of genetic origin, are life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them.
The NIH's Office of Rare Diseases states that, "an orphan or rare disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States" [2].
Rare diseases can vary in prevalence between populations, so a disease that is rare in some populations may be common in others. This is especially true of genetic diseases and infectious diseases. An example is cystic fibrosis, a genetic disease: it is rare in most parts of Asia but relatively common in Europe and in populations of European descent. Many infectious diseases are prevalent in a given geographic area but rare everywhere else. Other diseases, such as many rare forms of cancer, have no apparent pattern of distribution but are simply rare.
Eurordis (European Organisation for rare Diseases) estimates that there exist between 5,000 and 8,000 distinct rare diseases, affecting between 6% and 8% of the population.
Prevalence
As a guide, low prevalence is taken as prevalence of less than 5 per 10,000 in the community [1].The NIH's Office of Rare Diseases states that, "an orphan or rare disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States" [2].
Rare diseases can vary in prevalence between populations, so a disease that is rare in some populations may be common in others. This is especially true of genetic diseases and infectious diseases. An example is cystic fibrosis, a genetic disease: it is rare in most parts of Asia but relatively common in Europe and in populations of European descent. Many infectious diseases are prevalent in a given geographic area but rare everywhere else. Other diseases, such as many rare forms of cancer, have no apparent pattern of distribution but are simply rare.
Eurordis (European Organisation for rare Diseases) estimates that there exist between 5,000 and 8,000 distinct rare diseases, affecting between 6% and 8% of the population.
Characteristics
Rare diseases are usually chronic and life-threatening. This is so because, given its rarity, less severe illness are just not identified as such. Eurordis estimates that at least 80% of them have identified genetic origins. Other rare diseases are the result of infections and allergies or due to degenerative and proliferative causes. Symptoms of some rare diseases may appear at birth or in childhood, whereas others only appear once adulthood is reached.See also
External links
List of rare diseases
- List from Health on the Net Foundation, available in several languages
- List from National Instutes of Health
- List from Orphanet (change the last two letters of the link to choose your language: ES, DE, ...)
- http://rarediseasesandmedicines.blogspot.com/ A blog about rare diseases.
Rare diseases organizations
Europe
- RBDD -- Rare Bleeding Disorder Database - European network
- Eurordis -- European Organization for Rare Diseases
- EUROCAT - EUROCAT: European network of population based registries for congenital anomalies.
- List of projects funded by year.
- Key documents.
- DG SANCO Task Force on Rare Diseases; Two day conference on Rare Diseases 2005
- DG RESEARCH, TECHNOLOGICAL DEVELOPMENT AND DEMONSTRATION 6TH FRAMEWORK PROGRAMME (2002-2006): Life sciences, genomics and biotechnology for health.
- Orphanet: database of rare diseases.
- Orphan medicinal products.
- Committee for Orphan Medicinal Products (COMP) of the European Agency for the Evaluation of Medicinal Products (EMEA).
- Siere: Spanish Information System on Rare Diseases (in Spanish)
- ICRDOD -- Information Centre for Rare Diseases and Orphan Drugs
- Rete Regionale per le Malattie Rare - Regione Lombardia - Italy
USA
Rare diseases information
- DiseaseCard.org -- Information retrieval portal that integrates genetic and medical information
- NIH's Genetic and Rare Diseases Information Center
- Rare / Orphan Diseases at About.com
- Rare Diseases Clinical Research Network
- "Enfermedades raras: un enfoque práctico" (book in Spanish)
- ICRDOD -- Information Centre for Rare Diseases and Orphan Drugs
Scientific Journals
In epidemiology, the prevalence of a disease in a statistical population is defined as the total number of cases of the disease in the population at a given time, or the total number of cases in the population, divided by the number of individuals in the population.
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physician applies to a person who practices some type of medicine. Such medical practitioners are concerned with maintaining or restoring human health through the study, diagnosis and treatment of disease and injury, through both an area of knowledge
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A general practitioner (GP), family physician or family practitioner (FP) is a medical doctor who provides primary care. A GP/FP treats acute and chronic illnesses, provides preventive care and health education for all ages and both sexes.
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Genetics is the science of heredity and variation in living organisms.[1][2] Knowledge of the inheritance of characteristics has been implicitly used since prehistoric times for improving crop plants and animals through selective breeding.
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The granting of the orphan drug status is designed to encourage the development of drugs which are necessary but would be prohibitively expensive/un-profitable to develop under normal circumstances.
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A genetic disorder is a condition caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due to genetic abnormalities acquired in a few cells during life, the term "genetic disease" most commonly refers to diseases present in all cells of the body
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infectious disease is a clinically evident disease resulting from the presence of pathogenic microbial agents, including viruses, bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions.
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Cystic fibrosis
Classification & external resources
ICD-10 E 84.
ICD-9 277
OMIM 219700
DiseasesDB 3347
MedlinePlus 000107
eMedicine ped/535
MeSH D003550 Cystic fibrosis (CF
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Classification & external resources
ICD-10 E 84.
ICD-9 277
OMIM 219700
DiseasesDB 3347
MedlinePlus 000107
eMedicine ped/535
MeSH D003550 Cystic fibrosis (CF
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Asia is the world's largest and most populous continent. It covers 8.6% of the Earth's total surface area (or 29.4% of its land area) and, with almost 4 billion people, it contains more than 60% of the world's current human population.
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infectious disease is a clinically evident disease resulting from the presence of pathogenic microbial agents, including viruses, bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions.
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Each list of diseases is compiled from various public domain sources.
0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
External links
- List from Health on the Net Foundation, available in several languages
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The granting of the orphan drug status is designed to encourage the development of drugs which are necessary but would be prohibitively expensive/un-profitable to develop under normal circumstances.
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EUROCAT is the "European network of population based registries for congenital anomalies".
They were founded in 1979, with the goal of improving the collection of data about congenital disorders, and the standardization of that data.
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They were founded in 1979, with the goal of improving the collection of data about congenital disorders, and the standardization of that data.
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