FRAMBU. Resource Centre for Rare Disorders
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2 FRAMBU Resource Centre for Rare Disorders
3 Frambu Resource Centre for Rare Disorders is one of nine centres working with rare disorders in Norway. All nine centres are part of the Norwegian National Advisory Unit on Rare Disorders. The services provided are funded by the government as a supplement to the public health care system i Norway. Frambu s mission is to give people with rare or little known disabilities of all ages the possibility to live a life according to their abilities, wishes and needs. Developing and spreading knowledge about rare disorders is a primary goal to achive our mission. Frambu offers courses, councelling, research and up-to-date information about more than 400 rare disorders. National and international cooperation is essential in order to acquire knowledge about rare disorders. Therefore, Frambu works closely with professionals and organisations representing people with rare disorders around the world. Frambu actively participates in networking and research concerning rare disorders. Every year Frambu offers a variety of courses. Some courses are aimed at persons with rare disorders and their families, while others are aimed at professionals working with persons with rare disorders. During these courses participants receive information about rare disorders and related topics. They are also offered the opportunity of meeting other people in similar situations and share their experiences. If you are interested in more information about Frambu and our services, please visit or contact us by phone, , chat or social media.
4 Courses Frambu offers approximately 50 different courses every year. Courses aimed at people with rare disorders and their families focus on one or more disorder and related topics. Courses aimed at professionals focus on rare disorders and related topics adjusted to professionals needs. These courses are also made available by video conference and online streaming. In the summer, Frambu offers camps for children, youth and adults with rare disorders. They are given an opportunity to experience and master a variety of different activities, both social and physical. This is important in empowering people living with rare disorders. Communication and documentation Frambu collects and develops high quality transdisciplinary knowledge about rare disorders. Our knowledge is shared in courses, on our website, in social media and in various printed materials. Anyone can contact Frambu by phone, or social media.
5 Information and councelling Frambu offers information and councelling to people with rare disorders, both individually and in groups. The information can be adapted and tailored to special needs. It s important for people with rare disorders and their families to have a strong professional support network were they live. Therefore, Frambu offers councelling to professionals working in the local communities. Frambu regularily participates in video conferences, local meetings and conferences. Research Frambu develops new knowledge about rare disorders through research. Frambu collaborates on both national and international projects, in the fields of medicin, genetics, nutrition, fysiotherapy, occupational therapy, psychology, special education and social work. Frambu has its own research coordinator and we actively collaborate with students doing projects at bachelor-, master- and PhD-level.
6 National responsibilty for more than 400 disorders for example 22q11 deletion syndrome 22q13 deletion syndrome 4p- deletion syndrome 5p- deletion syndrome 47 XXX 47 XXY syndrome 47 XYY syndrome 48 XXXY syndrome 48 XXYY syndrome 49 XXXXY syndrome Adrenoleukodystrophy Aicardi-Goutières syndrome Alexander disease Alpers syndrome Alternating hemiplegia of childhood Angelman syndrome Aspartylglycosaminuria Ataxia telangiectasia Becker muscular dystrophy Beckwith-Wiedemann syndrome Canavan disease Carbohydrate-deficient glycoprotein syndrome Cardiofaciocutaneous syndrome Charcot-Marie-Tooth disease CHARGE syndrome Chronic progressive external opthalmoplegia Chromosomal anormaly (extremely rare, causing combined problems) Cockayne syndrome Coffin-Lowry syndrome Cognitive disability without known cause (innate) Cohen syndrome Congenital muscular dystrophy Cornelia de Lange syndrome Costello syndrome Cri du chat syndrome DiGeorge syndrome Duchenne muscular dystrophy Edward syndrom Emery-Dreyfuss muscular dystrophy Facio-scapulo-humeral muscular dystrophy Fahr disease Fucosidosis Fragile X syndrome Friedreich ataxia Gangliosidosis type II Gaucher disease Glutaric aciduria type 1 Hemihyperplasia Heritary spastic paraplegia Hunter syndrome Hurler syndrome Jacob syndrome Joubert syndrome Kabuki syndrome Kallmann syndrome Kearns-Sayre syndrome Kleefstra syndrome Klinefelter syndrome Klippel-Trénaunay syndrome Krabbe disease L1 syndrome Leber hereditary optic neuropathy Leigh disease Lesch-Nyhan syndrome Limb-girdle muscular dystrophy Lissencephaly Mannosidosis alpha B Marinesco-Sjögren disease Maroteaux-Lamy disease Menke syndrome Metachromatic leukodystrophy Miller-Dieker syndrome Mitochondrial encephalopathy, lactic acidosis and strokelike episodes Mitochondrial diseases Mitochondrial neurogastrointestinal encephalomyelopathy Morquio syndrome Mycoloipidosis type I-IV Mucopolysaccharidosis type I-IX Myoclonic epilepsy, ragged red fibres Myotonic dystrophy type 1 and 2 Möbius syndrome Neuroaxonal dystrophy (infantile) Neurofibromatosis type 1 Neurofibromatosis type 2 Neuromuscular diseases (hereditary or innate) Neuronal ceroid lipofuscinosis Niemann-Pick disease Noonan syndrome Numeric sex chromosome variations Ornithine carbamoyltransferase deficiency Panthothenate kinase-assosiated neurodegenerative disease Pearson syndrome Pelizaeus-Merzbacher disease Phelan-McDermid syndrome Pitt-Hopkin syndrome Pompe disease Potocki-Lupski disease Prader-Willi syndrome Primary familiar brain calcification Progeria Progressive disorder without known cause Progressive infantile poliodystrophy Progressive sclerosing poliodystrophy Proteus syndrome Pseudo-Hurler polydystrophy Rare premature aging conditions Rett syndrome Rubinstein-Taybi syndrome Salla syndrome Sandhoff disease Sanfillipo syndrome Santavuori-Haltia disease Scheie syndrome Schwannomatosis Seckel syndrome Seitelberger sykdom Septooptic dysplasia Sialidosis Silver-Russell syndrome Sly disease Smith-Lemli-Opitz syndrome Smith-Magenis disease Sotos syndrome Spielmeyer-Vogt disease Spinal muscular atrohpy Spinocerebellar ataxia Steinert disease Severe and progressive illness affecting the central nervous system Takao syndrome Tay-Sach disease Triple X Trisomy 13 Trisomy 18 Turner syndrome Velocardiofacial syndrome Vestibular schwannomatosis von Hippel-Lindau syndrome Weaver syndrome Werdnig-Hoffmann disease Williams syndrome White matter disease Wolf-Hirschorn syndrome X-bound recessive condition with cognitive disability See for more information
7 Visit us at
8 a part of Norwegian National Advisory Unit on Rare Disorders Frambu is a resource centre for rare disorders and a part of the public special health care system i Norway. Transdisciplinary expertice All ages and phases of life Courses and councelling Research, development and documentation For families and professionals No referral needed Most services are free Feel free to contact us about rare disorders! info@frambu.no Phone:
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