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Contribuições do Departamento de Genética Humana do Instituto Nacional de Saúde Doutor Ricardo Jorge para o controlo das Doenças Raras
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Advisor(s)
Abstract(s)
As doenças raras são caracterizadas por uma grande diversidade de sinais
e sintomas que variam não só de doença para doença, mas também entre
doentes que sofrem de uma mesma patologia. As doenças raras afetam não
apenas os indivíduos doentes, mas também têm grande impacto nas famílias,
amigos, cuidadores e na sociedade em geral. O diagnóstico precoce e
o início de tratamento com base na evidência são fatores importantes para
reduzir o impacto de uma doença rara na vida adulta. As doenças raras
são um problema de saúde pública reconhecido pela Comissão Europeia
e pela Organização Mundial da Saúde ( 1) ( 2 ) . O atraso no diagnóstico pode
significar que se desperdiçou a oportunidade de uma intervenção atempada
enquanto um diagnóstico correto poderá revelar a existência de uma
doença rara subjacente não suspeitada. Neste trabalho pretende-se dar a
conhecer as contribuições efetivas a nível nacional do Instituto Nacional de
Saúde Doutor Ricardo Jorge (INSA, I.P.), para o Serviço Nacional de Saúde
(SNS) na investigação, diagnóstico, prevenção e controlo das doenças
raras, realizadas no Departamento de Genética Humana (DGH) desde 1975.
Rare diseases are characterized by a wide range of signs and symptoms that var y not only from disease to disease but also among patients suffering from the same clinical condition. Rare diseases not only af fect sick individuals, but also have a major impact on families, friends, caretakers and societ y. Early diagnosis and evidence-based initiation of treatment are impor tant factors in reducing the impact of a rare disease on adulthood. Rare diseases are a public health issue recognized by the European Commission and by the World Health Organization ( 1) ( 2 ) . A delay in diagnosis may represent that an oppor tunit y was missed for a timely inter vention whereas a correct diagnosis may reveal the existence of a rare unsuspected underlying disease. The aim of this work is to present the ef fective contributions of the National Institute of Health Doutor Ricardo Jorge to the National Health System in the contex t of research, diagnosis, prevention and control of rare diseases, which have been per formed since 1975 in the Human Genetics Depar tment.
Rare diseases are characterized by a wide range of signs and symptoms that var y not only from disease to disease but also among patients suffering from the same clinical condition. Rare diseases not only af fect sick individuals, but also have a major impact on families, friends, caretakers and societ y. Early diagnosis and evidence-based initiation of treatment are impor tant factors in reducing the impact of a rare disease on adulthood. Rare diseases are a public health issue recognized by the European Commission and by the World Health Organization ( 1) ( 2 ) . A delay in diagnosis may represent that an oppor tunit y was missed for a timely inter vention whereas a correct diagnosis may reveal the existence of a rare unsuspected underlying disease. The aim of this work is to present the ef fective contributions of the National Institute of Health Doutor Ricardo Jorge to the National Health System in the contex t of research, diagnosis, prevention and control of rare diseases, which have been per formed since 1975 in the Human Genetics Depar tment.
Description
Keywords
Doenças Genéticas Instituto Nacional de Saúde Doutor Ricardo Jorge Doenças Raras Saúde Pública Portugal
Pedagogical Context
Citation
Boletim Epidemiológico Observações. 2019;8(Supl 11):66-72
Publisher
Instituto Nacional de Saúde Doutor Ricardo Jorge, IP