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Health & life sciences - Rare & orphan diseases	Last Update: 22-07-14

Results: 1-10 of 17

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Scientists find elusive gene responsible for rare congenital disease

A Franco-British team of researchers has discovered a mysterious gene responsible for the extremely rare congenital Grey Platelet Syndrome that causes a bleeding disease. Only 50 cases have been reported to date. The team hopes that the results of their study will lead to the development of a DNA (deoxyribonucleic acid) test able to diagnose the disease. The findings are published in the journal Nature Genetics.

22-08-11

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EU-funded scientists develop new approaches to fight Alzheimer's

Earlier diagnosis of Alzheimer's disease is one step closer thanks to a team of EU-funded researchers that has developed novel approaches for measuring biomarkers for diagnostics, and a sophisticated system for integrating the information analytically. The system, which offers researchers an objective method for measuring the patient's state, is an outcome of the PREDICTAD ('From patient data to personalised healthcare in Alzheimer's disease') project, which is backed with EUR 2.89 million under the 'Information and communication technologies' (ICT) Theme of the Seventh Framework Programme (FP7).

08-07-11

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New frontiers of imaging the human body

Particularly when dealing with a rare disease, a lack of specific experience and detailed data can hinder the decision making of any paediatrician. A new tool is being constructed to minimise this problem - a European biomedical database capable of sophisticated searching and patient case matching.

21-10-09

NB: This article is more than 4 years old so the information may not be up to date.

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A network for neuromuscular diseases

While affecting one in 2 000 people, rare diseases have been long neglected by national health authorities and the pharmaceutical industry. This has certainly been a drawback for the 30 million rare disease sufferers within the European Union. Now a network is being established between health facilities across Europe to unite resources and accelerate research into treatments against inherited neuromuscular diseases.

08-05-08

NB: This article is more than 4 years old so the information may not be up to date.

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Fruit bats act as reservoir for deadly Marburg virus

Fruit bats that roost in caves appear to be the source of the deadly Marburg Virus which causes a hemorrhagic fever related to Ebola virus. So say researchers from the Institut de recherche pour le développement (IRD) in France, who are working in collaboration with the Centre for Disease Control (CDC) from the USA and the Centre International de Recherches Médicales de Franceville (CIRMF) based in Gabon, West Africa. Tests were carried out on 1 138 specimens of fruit bat from 10 different species caught in caves in the tropical rainforest of Gabon and the North-West of the Democratic Republic of Congo.

01-10-07

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Finding a link between digital technology and autism

With an eye on how to improve the standard of education for children with autism spectrum disorders (ASD), researchers from Design Ergonomics Applied Research Group at Coventry University, and Media Arts at the University's School of Art and Design, have successfully developed a new environment offering digital technology that can stimulate these children. Project Spectrum offers low-cost space in a safe environment for all children. People who suffer from ASD require specialist education so as to develop their skills. Today, some 75% of people with autism have learning disabilities.

28-03-07

NB: This article is more than 4 years old so the information may not be up to date.

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European scientists uncover source of rare disease

A European-led project has uncovered the root cause of a rare illness triggered by parasites thought only to be present in cattle and camels. Trypanosomiasis, the disease caused by parasitic trypanosomes, was believed only to exist in parts of sub-Saharan Africa and South America. That changed, however, when researcher Philippe Truc from the Institut de Recherche pour le Développement (IRD), working alongside medical experts from World Health Organisation and Maharashtra State Department of Health in India, detected the disease in a farmer from a coastal region in India.

09-02-07

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Ageing and memory diseases: the Alzheimer's story

To round off this week focused on health and ageing, Headlines draws on a recent commentary published in the July Nature Medicine which examines the EU's research and policy footprint on the most debilitating of brain diseases – Alzheimer's.

24-07-06

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Tackling obesity from all angles

Last week, Headlines reported that even small lifestyle changes could add years to our lives. Now, another European research group, called EXGENESIS, is preparing to reform the fast food generation by improving our understanding of how exercise and diet work with genetics and molecular mechanisms in protecting people from obesity-related ailments, such as type II diabetes.

18-05-06

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Getting to the stem of a chronic problem

Findings by leading European scientists, published in the latest issue of Cell, reveal critical factors determining the onset of Parkinson's disease. The results, researchers say, could prove very useful in developing stem cell therapies aimed at beating this debilitating brain disease.

01-02-06

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