A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000.
A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.
One rare disease may affect only a handful of patients in the EU (European Union), and another touch as many as 245,000. In the EU, as many as 30 million people alone may be affected by one of over 6000 rare diseases existing.
80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
50% of rare diseases touch children.
Characteristics of rare diseases
Over 6000 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.
Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. Quintessentially disabling, the patients quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.
The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by patients and their families.
Common problems faced
The lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis. Also the need for appropriate quality health care engenders inequlities and difficulties in access to treatment and care. This often results in heavy social and financial burdens on patients.
As mentioned, due to the broad diversity of disorders and relatively common symptoms which can hide underlying rare diseases, initial misdiagnosis is common. In addition symptoms differ not only from disease to disease, but also from patient to patient suffering from the same disease.
How can things change?
Although rare disease patients and their families face many challenges, enormous progress is being made every day.
The ongoing implementation of a better comprehensive approach to rare diseases has led to the development of appropriate public health policies. Important gains continue to be made with the increase of international cooperation in the field of clinical and scientific research as well as the sharing of scientific knowledge about all rare diseases, not only the most “recurrent” ones. Both of these advances have led to the development of new diagnostic and therapeutic procedures.
However, the road ahead is long with much progress to be made using RNAi technology.
List of rare diseases
Acrocephalosyndactylia
Acrodermatitis
Addison Disease
Adie Syndrome
Alagille Syndrome
Amylose
Amyotrophic Lateral Sclerosis
Angelman Syndrome
Angiolymphoid Hyperplasia with Eosinophilia
Arnold-Chiari Malformation
Arthritis, Juvenile Rheumatoid
Asperger Syndrome
Bardet-Biedl Syndrome
Barrett Esophagus
Beckwith-Wiedemann Syndrome
Behcet Syndrome
Bloom Syndrome
Bowen’s Disease
Brachial Plexus Neuropathies
Brown-Sequard Syndrome
Budd-Chiari Syndrome
Burkitt Lymphoma
Carcinoma 256, Walker
Caroli Disease
Charcot-Marie-Tooth Disease
Chediak-Higashi Syndrome
Chiari-Frommel Syndrome
Chondrodysplasia Punctata
Colonic Pseudo-Obstruction
Colorectal Neoplasms, Hereditary Nonpolyposis
Craniofacial Dysostosis
Creutzfeldt-Jakob Syndrome
Crohn Disease
Cushing Syndrome
Cystic Fibrosis
Dandy-Walker Syndrome
De Lange Syndrome
Dementia, Vascular
Dermatitis Herpetiformis
DiGeorge Syndrome
Diffuse Cerebral Sclerosis of Schilder
Duane Retraction Syndrome
Dupuytren Contracture
Ebstein Anomaly
Eisenmenger Complex
Ellis-Van Creveld Syndrome
Encephalitis
Enchondromatosis
Epidermal Necrolysis, Toxic
elephantiasis
Facial Hemiatrophy
Factor XII Deficiency
Fanconi Anemia
Felty’s Syndrome
Fibrous Dysplasia, Polyostotic
Fox-Fordyce Disease
Friedreich Ataxia
Fusobacterium
Gardner Syndrome
Gaucher Disease
Gerstmann Syndrome
Giant Lymph Node Hyperplasia
Glycogen Storage Disease Type I
Glycogen Storage Disease Type II
Glycogen Storage Disease Type IV
Glycogen Storage Disease Type V
Glycogen Storage Disease Type VII
Goldenhar Syndrome
Guillain-Barre Syndrome
Hallermann’s Syndrome
Hamartoma Syndrome, Multiple
Hartnup Disease
Hepatolenticular Degeneration
Hepatolenticular Degeneration
Hereditary Sensory and Motor Neuropathy
Hirschsprung Disease
Histiocytic Necrotizing Lymphadenitis
Histiocytosis, Langerhans-Cell
Hodgkin Disease
Horner Syndrome
Huntington Disease
Hyperaldosteronism
Hyperostosis, Diffuse Idiopathic Skeletal
Hypopituitarism
Inappropriate ADH Syndrome
Intestinal Polyps
Isaacs Syndrome
Kartagener Syndrome
Kearns-Sayre Syndrome
Klippel-Feil Syndrome
Klippel-Trenaunay-Weber Syndrome
Kluver-Bucy Syndrome
Korsakoff Syndrome
Lafora Disease
Lambert-Eaton Myasthenic Syndrome
Landau-Kleffner Syndrome
Langer-Giedion Syndrome
Leigh Disease
Lesch-Nyhan Syndrome
Leukodystrophy, Globoid Cell
Li-Fraumeni Syndrome
Long QT Syndrome
Werewolf-Syndrome-rare diseases
Machado-Joseph Disease
Mallory-Weiss Syndrome
Marek Disease
Marfan Syndrome
Meckel Diverticulum
Meige Syndrome
Melkersson-Rosenthal Syndrome
Meniere Disease
Mikulicz’ Disease
Miller Fisher Syndrome
Mobius Syndrome
Moyamoya Disease
Mucocutaneous Lymph Node Syndrome
Mucopolysaccharidosis I
Mucopolysaccharidosis II
Mucopolysaccharidosis III
Mucopolysaccharidosis IV
Mucopolysaccharidosis VI
Multiple Endocrine Neoplasia Type 1
Munchausen Syndrome by Proxy
Muscular Atrophy, Spinal
Neuroaxonal Dystrophies
Neuromyelitis Optica
Neuronal Ceroid-Lipofuscinoses
Niemann-Pick Diseases
Noonan Syndrome
Optic Atrophies, Hereditary
Osteitis Deformans
Osteochondritis
Osteochondrodysplasias
Osteolysis, Essential
Paget Disease Extramammary
Paget’s Disease, Mammary
Panniculitis, Nodular Nonsuppurative
Papillon-Lefevre Disease
Paralysis
Progeria
Pelizaeus-Merzbacher Disease
Pemphigus, Benign Familial
Penile Induration
Pericarditis, Constrictive
Peroxisomal Disorders
Peutz-Jeghers Syndrome
Pick Disease of the Brain
Pierre Robin Syndrome
Pigmentation Disorders
Pityriasis Lichenoides
Polycystic Ovary Syndrome
Polyendocrinopathies, Autoimmune
Prader-Willi Syndrome
Pupil Disorders
Rett Syndrome
Reye Syndrome
Rubinstein-Taybi Syndrome
Sandhoff Disease
Sarcoma, Ewing’s
Sjogren’s Syndrome
Sjogren-Larsson Syndrome
Smith-Lemli-Opitz Syndrome
Spinal Muscular Atrophies of Childhood
Sturge-Weber Syndrome
Sweating, Gustatory
Takayasu Arteritis
Tangier Disease
Tay-Sachs Disease
Thromboangiitis Obliterans
Thyroiditis, Autoimmune
Tietze’s Syndrome
Togaviridae Infections
Tolosa-Hunt Syndrome
Tourette Syndrome
Uveomeningoencephalitic Syndrome
Waardenburg’s Syndrome
Wegener Granulomatosis
Weil Disease
Werner Syndrome
Williams Syndrome
Wilms Tumor
Wolff-Parkinson-White Syndrome
Wolfram Syndrome
Wolman Disease
Zellweger Syndrome
Zollinger-Ellison Syndrome
von Willebrand Diseases