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Rare Diseases Day 2013

Collection published: 28 February 2013

Last updated: 25 March 2013

Rare Diseases Day 2013 raises awareness of rare diseases and their impact on the daily lives of patients and their families all over the world. This series highlights the research published in Orphanet Journal of Rare Diseases and Parasites & Vectors on some of the genetic and infectious rare diseases that affect humans.

Neglected Tropical Diseases are discussed in this guest blog by David Molyneux and Lorenzo Savioli.

		Research Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain Saskia M Rombach, Bouwien E Smid, Machtelt G Bouwman, Gabor E Linthorst, Marcel G W Dijkgraaf, Carla E M Hollak Orphanet Journal of Rare Diseases 2013, 8:47 (25 March 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research Impact of Friedreich’s Ataxia on health-care resource utilization in the United Kingdom and Germany Paola Giunti, Julia Greenfield, Alison J Stevenson, Michael H Parkinson, Jodie L Hartmann, Ruediger Sandtmann, James Piercy, Jamie O’Hara, Leo Ruiz Casas, Fiona M Smith Orphanet Journal of Rare Diseases 2013, 8:38 (28 February 2013) Abstract \| Full text \| PDF \| PubMed
		Research Cost-effectiveness of enzyme replacement therapy for Fabry disease Saskia M Rombach, Carla EM Hollak, Gabor E Linthorst, Marcel GW Dijkgraaf Orphanet Journal of Rare Diseases 2013, 8:29 (19 February 2013) Abstract \| Full text \| PDF \| PubMed
		Research New clinical and molecular insights on Barth syndrome Lorenzo Ferri, Maria Alice Donati, Silvia Funghini, Sabrina Malvagia, Serena Catarzi, Licia Lugli, Luca Ragni, Enrico Bertini, Frédéréc M Vaz, David N Cooper, Renzo Guerrini, Amelia Morrone Orphanet Journal of Rare Diseases 2013, 8:27 (14 February 2013) Abstract \| Full text \| PDF \| PubMed
		Research Integrated prevalence mapping of schistosomiasis, soil-transmitted helminthiasis and malaria in lakeside and island communities in Lake Victoria, Uganda Narcis B Kabatereine, Claire J Standley, Jose C Sousa-Figueiredo, Fiona M Fleming, J Russell Stothard, Ambrose Talisuna, Alan Fenwick Parasites & Vectors 2011, 4:232 (13 December 2011) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary This fish landing site and associated community is typical of others in Lake Victoria. Here, the burdens of malaria, schistosomiasis and soil-transmitted helminths are very high and pose a particular challenge for disease surveillance and control. Image: An island community.
		Research Lymphatic filariasis in the Democratic Republic of Congo; micro-stratification overlap mapping (MOM) as a prerequisite for control and surveillance Louise A Kelly-Hope, Brent C Thomas, Moses J Bockarie, David H Molyneux Parasites & Vectors 2011, 4:178 (18 September 2011) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central \| Editor’s summary This study reviews, synthesises and maps the distribution of W. bancrofti in the Democratic Republic of Congo, analysing factors that will impact on its elimination - loiasis, onchocerciasis, soil transmitted helminths and malaria co-endemicity. Image: Satellite image of Congo River tributaries where W. bancrofti has been reported.
		Short report Zoonoses and marginalised infectious diseases of poverty: Where do we stand? David Molyneux, Zuhair Hallaj, Gerald T Keusch, Donald P McManus, Helena Ngowi, Sarah Cleaveland, Pilar Ramos-Jimenez, Eduardo Gotuzzo, Kamal Kar, Ana Sanchez, Amadou Garba, Helene Carabin, Amal Bassili, Claire L Chaignat, Francois-Xavier Meslin, Hind M Abushama, Arve L Willingham, Deborah Kioy Parasites & Vectors 2011, 4:106 (14 June 2011) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central \| Editor’s summary This report summarises the findings of the WHO/TDR Disease Reference Group on Zoonoses and other Marginalised Infections of Poverty and makes recommendations on future research and policy priorities in neglected zoonoses. Image: Livestock are key assets in rural economies but pose risks for zoonotic disease.

		Research Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain Saskia M Rombach, Bouwien E Smid, Machtelt G Bouwman, Gabor E Linthorst, Marcel G W Dijkgraaf, Carla E M Hollak Orphanet Journal of Rare Diseases 2013, 8:47 (25 March 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research Impact of Friedreich’s Ataxia on health-care resource utilization in the United Kingdom and Germany Paola Giunti, Julia Greenfield, Alison J Stevenson, Michael H Parkinson, Jodie L Hartmann, Ruediger Sandtmann, James Piercy, Jamie O’Hara, Leo Ruiz Casas, Fiona M Smith Orphanet Journal of Rare Diseases 2013, 8:38 (28 February 2013) Abstract \| Full text \| PDF \| PubMed
		Research Cost-effectiveness of enzyme replacement therapy for Fabry disease Saskia M Rombach, Carla EM Hollak, Gabor E Linthorst, Marcel GW Dijkgraaf Orphanet Journal of Rare Diseases 2013, 8:29 (19 February 2013) Abstract \| Full text \| PDF \| PubMed
		Research New clinical and molecular insights on Barth syndrome Lorenzo Ferri, Maria Alice Donati, Silvia Funghini, Sabrina Malvagia, Serena Catarzi, Licia Lugli, Luca Ragni, Enrico Bertini, Frédéréc M Vaz, David N Cooper, Renzo Guerrini, Amelia Morrone Orphanet Journal of Rare Diseases 2013, 8:27 (14 February 2013) Abstract \| Full text \| PDF \| PubMed
		Research Integrated prevalence mapping of schistosomiasis, soil-transmitted helminthiasis and malaria in lakeside and island communities in Lake Victoria, Uganda Narcis B Kabatereine, Claire J Standley, Jose C Sousa-Figueiredo, Fiona M Fleming, J Russell Stothard, Ambrose Talisuna, Alan Fenwick Parasites & Vectors 2011, 4:232 (13 December 2011) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary This fish landing site and associated community is typical of others in Lake Victoria. Here, the burdens of malaria, schistosomiasis and soil-transmitted helminths are very high and pose a particular challenge for disease surveillance and control. Image: An island community.
		Research Lymphatic filariasis in the Democratic Republic of Congo; micro-stratification overlap mapping (MOM) as a prerequisite for control and surveillance Louise A Kelly-Hope, Brent C Thomas, Moses J Bockarie, David H Molyneux Parasites & Vectors 2011, 4:178 (18 September 2011) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central \| Editor’s summary This study reviews, synthesises and maps the distribution of W. bancrofti in the Democratic Republic of Congo, analysing factors that will impact on its elimination - loiasis, onchocerciasis, soil transmitted helminths and malaria co-endemicity. Image: Satellite image of Congo River tributaries where W. bancrofti has been reported.
		Short report Zoonoses and marginalised infectious diseases of poverty: Where do we stand? David Molyneux, Zuhair Hallaj, Gerald T Keusch, Donald P McManus, Helena Ngowi, Sarah Cleaveland, Pilar Ramos-Jimenez, Eduardo Gotuzzo, Kamal Kar, Ana Sanchez, Amadou Garba, Helene Carabin, Amal Bassili, Claire L Chaignat, Francois-Xavier Meslin, Hind M Abushama, Arve L Willingham, Deborah Kioy Parasites & Vectors 2011, 4:106 (14 June 2011) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central \| Editor’s summary This report summarises the findings of the WHO/TDR Disease Reference Group on Zoonoses and other Marginalised Infections of Poverty and makes recommendations on future research and policy priorities in neglected zoonoses. Image: Livestock are key assets in rural economies but pose risks for zoonotic disease.