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	Graves' Disease (Site not responding. Last check: 2007-10-30)
		Graves' Disease is a type of autoimmune disease that causes over-activity of the thyroid gland, causing hyperthyroidism.
		Graves’ Disease also tends to affect women between the ages of 20 and 40, although it occurs in infants, children, and the elderly.
		Graves’ Disease is the only kind of hyperthyroidism that is associated with swelling of the tissue around the eyes and bulging of the eyes.
	www.4woman.gov /faq/graves.htm (999 words)

	Rare disease - Wikipedia, the free encyclopedia
		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 will vary from population to population, as a disease that is rare in some populations may be common in another.
	en.wikipedia.org /wiki/Rare_disease (436 words)

	Eurordis - 01. What is a rare disease?
		Rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease.
		Almost everyone with a rare disease encounters the same problems: delay in and failure of diagnosis, absence of information about their disease, lack of referral to qualified professionals, lack of availability of quality care and social benefits, poor co-ordination of in- and out-patient care, reduced autonomy, and difficulty reintegrating into working, social and family environments.
		Rare disease organisations have been created as a result of the experience gained by patients and their families from being so often excluded from health care systems and thus having to take charge themselves of their own disease.
	www.eurordis.org /article.php3?id_article=252 (2925 words)

	Rare Pediatric Disease Database (Site not responding. Last check: 2007-10-30)
		Norrie disease is a rare, inherited genetic disorder that results in progressive blindness, deafness, and mental retardation in children.
		The frequency or incidence of Norrie disease is not known.
		Norrie disease is caused by different DNA mutations in the “NDP” gene localized to chromosome 11.
	www.madisonsfoundation.org /content/3/1/display.asp?did=411 (466 words)

	EUROPA - Public Health - Threats to health - non-communicable diseases - Rare diseases
		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 so as to prevent significant morbidity or perinatal or early mortality or a considerable reduction in an individual’s quality of life or socio-economic potential.
		Rare diseases are considered to have little impact on society as a whole, as the prevalence of each disease is low.
		A global approach to rare diseases means that individual diseases do not fall through the net and real public health policies can be established in the areas of scientific and biomedical research, drug research and development, industry policy, information and training, social benefits, hospitalisation and outpatient treatment.
	europa.eu.int /comm/health/ph_threats/non_com/rare_diseases_en.htm (709 words)

	Rare Pediatric Disease Database (Site not responding. Last check: 2007-10-30)
		Caroli Disease is a rare inherited disorder of the digestive system characterized by an abnormal widening of the ducts that carry bile from the liver.
		A second form of Caroli Disease (called Caroli Syndrome) is associated with an abnormal formation of bands of fibrous tissue in the liver (congenital hepatic fibrosis).
		The frequency of Caroli Disease is not known because it is a rare disease.
	www.madisonsfoundation.org /content/3/1/display.asp?did=446 (716 words)

	Orphan Products: Hope for People With Rare Diseases
		Many rare diseases or conditions can be difficult to diagnose and manage because in their early stages, symptoms may be absent or masked, misunderstood, or confused with other diseases.
		Congress passed the "Rare Diseases Act of 2002," establishing a role for the ORD at the NIH in encouraging orphan disease research.
		Rare diseases affect so few people that information about them may be difficult to find, making the situation more traumatic and stressful.
	www.fda.gov /fdac/features/2003/603_orphan.html (2485 words)

	Stargardt's Disease - Rare Disorders - Medstudents (Site not responding. Last check: 2007-10-30)
		Stargardt’s Disease is an autossomal recessive hereditary disease included in the group of degenerative macular diseases, which consists in progressive lost of cones in fovea of both eyes, leading to variable levels of central vision loss.
		This disease was first described as an autossomal recessive inherited disease, but there are some described cases of dominant pattern.
		Hardly the disease is diagnosed at this age due to low age of patients.
	www.medstudents.com.br /raredi/raredi4.htm (950 words)

	OrphaNews Europe : the newsletter of the Rare Disease Task Force
		The situation with respect to centres of reference for rare diseases in Europe is currently very diverse, reflecting both the heterogeneity of European health care systems and their governance, and the relative priority attributed to rare diseases in each Member State.
		The designation of centres of reference is part of the French National Plan for Rare Diseases and aims to improve patients' access to diagnosis and management of their disease by ensuring the availability of high quality care provision, the development of recommendations for clinical practice relating to rare diseases and the development of care networks.
		The Plan, which runs until 2008, enshrines a major strategy for rare diseases and proposes a series of concrete measures intended to be coherent and structuring for the organisation of rare disease care provision in France (see the June 2005 edition of OrphaNews Europe for more details).
	www.orpha.net /actor/EuropaNews/2005/051020.html (4127 words)

	Do You Have a Rare Disease? - Yale-New Haven Hospital
		Approximately 6,000 rare diseases are known to exist and new ones are discovered each year.
		If you have a rare disease and are hospitalized for another problem, be sure to go to a hospital familiar with treating patients with multiple problems, including individuals with your rare condition.
		Extensive laboratory services (biochemical disease detection, molecular cytogenetics, molecular diagnostics and clinical microbiology) are available to provide sophisticated tests to differentiate rare disease from common problems.
	www.ynhh.org /choice/raredisease.html (692 words)

	Degos Disease
		This rare disease is important because a skin biopsy may be the first clue to the diagnosis.
		Degos' disease, known confusingly as malignant strophic papularis, is an uncommon condition of unknown cause characterized by distinctive infarctive lesions in the skin, gastrointestinal tract, and central nervous system; the lesions at the two latter sites often result in death.
		Degos disease, or malignant atrophic papulosis, is a rare obstructive vasculopathy of unknown origin, characterized by distinctive skin lesions, visceral involvement, and an unfavorable outcome.
	www.thedoctorsdoctor.com /diseases/degos_disease.htm (2127 words)

	Rare Disease Endemic in South America Is Model for Studying Autoimmunity (Site not responding. Last check: 2007-10-30)
		The disease can be limited to patches on the skin but its more deadly systemic version can spread across the skin and, preliminary data indicates, to other organs such as the heart and brain.
		The test enables intervention to halt disease progression, with treatments such as antioxidants that destroy damaging free radicals and tightly controlled doses of immunosuppressive drugs that lessen the immune response without significantly increasing susceptibility to infectious diseases, such as tuberculosis and herpes, which are pervasive in the rural environment.
		The El Bagre disease has much in common with another form of endemic pemphigus foliaceus found in some similarly rural and mined regions of Brazil, but that disease affects primarily children, including boys and girls, and although the two diseases share antigens, they do not share all of them.
	www.mcg.edu /news/2004NewsRel/AbreuVelez.html (1090 words)

	Infants With Rare Genetic Disease Saved by Cord Blood Stem Cells
		The study is the first to demonstrate a life-saving treatment for newborns with Krabbe Disease, in which children are missing an enzyme critical to forming the myelin sheath that protects developing brain cells from damage.
		"The diseases may be uncommon, but the cost to the child, their family and to society at large is enormous when one considers the burden of caring for a severely disabled child," said Joanne Kurtzberg, senior author of the study.
		Although lysosomal storage diseases are rare – fewer than 5,000 births combined out of 4 million per year in the U.S. – they are best treated if patients are diagnosed and treated in early infancy, said Kurtzberg.
	www.dukenews.duke.edu /2005/05/cordblood_print.htm (1017 words)

	Rocky Mountain News: Health & fitness
		LAM was first described in the medical literature in 1937 as a disease in which an unusual type of muscle cell invades the tissues of the lungs.
		The disease most often occurs in women of childbearing age and is exacerbated by estrogen.
		She described a circumstance common to nearly all those facing a rare disease: "Because the number of women diagnosed with LAM is so low, it is difficult to find corporations and drug companies interested in financially supporting research to find a treatment and cure.
	www.rockymountainnews.com /drmn/health/article/0,2777,DRMN_23956_4291441,00.html (1043 words)

	Rare disease numbers higher; funding lower - The Clarion-Ledger
		Rare diseases are those that affect fewer than 200,000 Americans.
		There are 6,000 rare diseases, including such well-known diseases as cystic fibrosis (30,000 Americans) and such lesser-known diseases as Fragile X syndrome, the most common inherited cause of mental retardation (one in 3,600 males and one in 4,000 to 6,000 females).
		Rare diseases have received a boon from research into the human genome, leading scientists to identify more and more faulty genes.
	www.clarionledger.com /apps/pbcs.dll/article?AID=/20040822/SPECIAL04/408220384 (887 words)

	Gluten-Sensitive Enteropathy, No Longer a Rare Disease
		Celiac disease, also known as Gluten Sensitive Enteropathy (GSE), is an autoimmune inflammatory disease of the small intestine that is precipitated by ingestion of gluten, a component of wheat protein, in genetically susceptible individuals.
		Although celiac disease was described late in the 19th century, treatment remained empiric until the mid 20th century when a Dutch pediatrician, Willem Dicke, noted that individuals with celiac disease improved dramatically after removal of dietary wheat.
		Antibodies to gliadin, endomysium, and tissue transglutaminase for the diagnosis of celiac disease.
	www.uams.edu /celiac/review/GSE1.htm (4099 words)

	Gaucher Disease - Rare Disorders - Medstudents (Site not responding. Last check: 2007-10-30)
		Gaucher Disease is the commonest inherited (genetic) Lysossomal Storage Disease.
		Gaucher disease is transmitted as an autossomal recessive disorder.
		The prevalence of type I Gaucher Disease in general population is 1/60.000 to 1/120.000 births.
	www.medstudents.com.br /raredi/raredi2.htm (908 words)

	ScienceDaily: Rare Disease Endemic In South America Is Model For Studying Autoimmunity
		The disease can be limited to patches on the skin but its more deadly systemic version can spread across the skin and, preliminary data indicates, to other organs such as the heart and brain.
		The test enables intervention to halt disease progression, with treatments such as antioxidants that destroy damaging free radicals and tightly controlled doses of immunosuppressive drugs that lessen the immune response without significantly increasing susceptibility to infectious diseases, such as tuberculosis and herpes, which are pervasive in the rural environment.
		The El Bagre disease has much in common with another form of endemic pemphigus foliaceus found in some similarly rural and mined regions of Brazil, but that disease affects primarily children, including boys and girls, and although the two diseases share antigens, they do not share all of them.
	www.sciencedaily.com /releases/2004/02/040219080612.htm (1232 words)

	[No title]
		Most doctors are trained to put rare diseases last on the list of possibilities when figuring out what is ailing a patient.
		Abbey Meyers, president of the National Organization for Rare Disorders, is the mother of three children with a neurological disorder called Tourette’s syndrome, which is characterized by involuntary sounds and movements.
		It was clear from the beginning that his disease was a “zebra”: Fanconi anemia, a very rare and often fatal genetic disorder in which the bone marrow fails, leading to severe anemia and a likelihood of developing cancer very early in life.
	www.parade.com /articles/editions/2006/edition_07-23-2006/Rare_Diseases (1957 words)

	Sloan-Kettering - Mutation in DKC1 Gene Can Cause Rare Aging Disease & Cancer
		Dyskeratosis Congenita is an extremely rare, fatal X-linked recessive disease that results in premature aging, severe anemia due to bone marrow failure, and dyskeratosis of the nails, skin hyperpigmentation, and cancer.
		Dyskerin is thought to be involved in the regulation of ribosomal function and interacts with the RNA component of telomerase, which is essential in the regulation of telomere length.
		However, since mouse telomeres are longer than those of humans, the disease was not predicted to occur until telomeres reached a critical reduction in length which would take several generations of the Dkc1 mutant strain.
	www.mskcc.org /mskcc/html/12318.cfm (719 words)

	Questions about rare lung disease: 1/00
		Falling ill is already a misfortune, but to make matters worse, the rarity of the disease often thwarts scientific investigation that could lead to a treatment or cure.
		LAM is a relentless and often fatal disease that ravages the lungs of young and middle-aged women.
		Since the disease occurs almost exclusively in women of child-bearing age, scientists naturally suspected the hormone estrogen was somehow involved.
	news-service.stanford.edu /news/2000/january19/lam-119.html (775 words)

	Eurordis - 04. Get help for a rare disease
		This is a rare disease information service that can answer your questions in French or in English.
		A rare disease help service responds to questions concerning any of the many thousands of rare diseases.
		Rare disease help services usually are specialised by geographic location and by language.
	www.eurordis.org /article.php3?id_article=505 (1483 words)

	Other Sources of Rare Disease/Orphan Product Information
		For example, the National Organization for Rare Disorders (NORD), which is an umbrella organization for rare disease voluntary groups, is included, but each of the 130+ organizations that are members of NORD are not listed.
		The goals of the CHDCT are to bring about greater awareness and understanding of heritable disorders of connective tissue in medical professions and in the public at large; to encourage teaching in the schools, to train health practitioners to help identify, diagnose, and treat heritable connective tissue disorders; and to foster research.
		The Office of Rare Diseases (ORD) was established in 1993 within the Office of the Director of the National Institutes of Health (NIH).
	www.fda.gov /orphan/rdid (592 words)

	Baylor doctors find mutated gene causing rare Stargardt disease (Site not responding. Last check: 2007-10-30)
		Houston doctors have located the gene that causes a disease responsible for most of the degenerating central vision in children and young adults.
		Typically, the disease strikes between the ages of 6 and 15.
		Last August, a researcher at the National Cancer Institute said he had found a disease in the middle of an area of the chromosome where the Baylor scientists knew their gene had to be.
	www.chron.com /content/chronicle/metropolitan/97/03/03/gene.2-0.html (554 words)

	NZORD Rare Disease Information
		These databases contain large quantities of information on many different diseases, and their main function is to provide up-to-date and accurate information to their target audience.
		This section gives an introduction to some of the best rare disease databases that are accessible to all users.
		Rare Disease Gateways The gateways perform a different function to databases.
	www.nzord.org.nz /internal.asp?CategoryID=100005 (379 words)

	JHMN:MEDICAL UPDATES:Test Confirms a Rare Blood Disease
		Blood volume also increases—a double whammy because that masks the disease from the doctor while putting the patient at a higher risk of blood clots and stroke.
		Interestingly, the disease was first identified and described here nearly a century ago by Sir William Osler, Johns Hopkins’ eminent first chief of medicine.
		Spivak, who’s studied the disease here for two decades, has tailored management on monitoring a patient’s blood volume and keeping it normal.
	www.hopkinsmedicine.org /hmn/W99/mu_9.html (405 words)

	NDRI - Human Tissue and Organs for Research - National Disease Research Interchange - Rare Disease Initiatives (Site not responding. Last check: 2007-10-30)
		The Rare Disease Initiative is at the forefront of NDRI’s efforts in this area.
		Over 6,000 rare diseases have been identified, necessitating a multifactorial approach to solving the fundamental problem of enabling broader researcher access to tissues from this huge pool of potential donors.
		A core component of the Rare Disease Initiative is the establishment of a collaborative network between NDRI and the 80 General Clinical Research Centers (GCRCs) funded by the National Institutes of Health (NIH) and the National Center for Research Resources (NCRR).
	www.ndriresource.org /html/spec_rare.htm (494 words)

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