Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy

International audienceDysferlinopathies are a group of autosomal recessive muscular dystrophies caused by mutations in the dysferlin gene. This study presents clinical features and the mutational spectrum in the largest cohort of Chinese patients analyzed to date

RD-Connect online catalogue of biobanks and registries: what do we add to the existing?

<p>RD_Connect is a project aimed at increasing data sharing among registries, biobanks and bioinformatics. In this framework, we are developing an online catalogue of registries and biobanks which are relevant for research on rare diseases. As compared to existing inventories, the RD-Connect catalogue should offer more detailed information on the content of each database (N of samples/registered cases for a certain disease) and be regularly updated by an automatic alert system and through the active participation of biobanks/registries.</p> <p>Also, the catalogue will promote networking interaction of its members.</p> <p>The poster describes the main aims of the catalogue and the strategy used to invite biobanks and registries to be listed into the catalogue.<br><br></p> <p> </p

The genome of the African trypanosome Trypanosoma brucei

African trypanosomes cause human sleeping sickness and livestock trypanosomiasis in sub-Saharan Africa. We present the sequence and analysis of the 11 megabase-sized chromosomes of &lt;i&gt;Trypanosoma brucei&lt;/i&gt;. The 26-megabase genome contains 9068 predicted genes, including ~900 pseudogenes and ~1700 &lt;i&gt;T. brucei&lt;/i&gt;–specific genes. Large subtelomeric arrays contain an archive of 806 variant surface glycoprotein (VSG) genes used by the parasite to evade the mammalian immune system. Most VSG genes are pseudogenes, which may be used to generate expressed mosaic genes by ectopic recombination. Comparisons of the cytoskeleton and endocytic trafficking systems with those of humans and other eukaryotic organisms reveal major differences. A comparison of metabolic pathways encoded by the genomes of &lt;i&gt;T. brucei&lt;/i&gt;, &lt;i&gt;T. cruzi&lt;/i&gt;, and &lt;i&gt;Leishmania major&lt;/i&gt; reveals the least overall metabolic capability in &lt;i&gt;T. brucei&lt;/i&gt; and the greatest in &lt;i&gt;L. major&lt;/i&gt;. Horizontal transfer of genes of bacterial origin has contributed to some of the metabolic differences in these parasites, and a number of novel potential drug targets have been identified

The genome of the blood fluke Schistosoma mansoni

Schistosoma mansoni is responsible for the neglected tropical disease schistosomiasis that affects 210 million people in 76 countries. Here we present analysis of the 363 megabase nuclear genome of the blood fluke. It encodes at least 11,809 genes, with an unusual intron size distribution, and new families of micro-exon genes that undergo frequent alternative splicing. As the first sequenced flatworm, and a representative of the Lophotrochozoa, it offers insights into early events in the evolution of the animals, including the development of a body pattern with bilateral symmetry, and the development of tissues into organs. Our analysis has been informed by the need to find new drug targets. The deficits in lipid metabolism that make schistosomes dependent on the host are revealed, and the identification of membrane receptors, ion channels and more than 300 proteases provide new insights into the biology of the life cycle and new targets. Bioinformatics approaches have identified metabolic chokepoints, and a chemogenomic screen has pinpointed schistosome proteins for which existing drugs may be active. The information generated provides an invaluable resource for the research community to develop much needed new control tools for the treatment and eradication of this important and neglected disease.Wellcome Trust[WT085775/Z/08/Z]National Institutes of Health (NIH) National Institute of Allergy and Infectious Diseases (NIAID/NIH)[AI48828]Oyama Health FoundationJapan Society for the Promotion of Science[13557021]Japan`s Ministry of Education, Culture, Sports, Science and TechnologySandler FoundationNIH-Fogarty[5D43TW006580]NIH-Fogarty[5D43TW007012-03]NIH[AI054711-01A2]PhRMA FoundationBurroughs Wellcome FundWHO - United Nations Children`s Fund (UNICEF)/United Nations Development Program (UNDP)/World bank/World Health OrganizationCAPESFAPESP[FAPEMIG REDE-281/05