Female Improvisational Poets: Challenges and Achievements in the Twentieth Century

In December 2009, 14,500 people met at the Bilbao Exhibition Centre in the Basque Country to attend an improvised poetry contest. Forty-four poets took part in the 2009 literary tournament, and eight of them made it to the final. After a long day of literary competition, Maialen Lujanbio won and received the award: a big black txapela or Basque beret. That day the Basques achieved a triple triumph. First, thousands of people had gathered for an entire day to follow a literary contest, and many more had attended the event via the web all over the world. Second, all these people had followed this event entirely in Basque, a language that had been prohibited for decades during the harsh years of the Francoist dictatorship. And third, Lujanbio had become the first woman to win the championship in the history of the Basques. After being crowned with the txapela, Lujanbio stepped up to the microphone and sung a bertso or improvised poem referring to the struggle of the Basques for their language and the struggle of Basque women for their rights. It was a unique moment in the history of an ancient nation that counts its past in tens of millennia: I remember the laundry that grandmothers/ of earlier times carried on the cushion [on their heads]/ I remember the grandmother of old times/ and today's mothers and daughters....This books looks at female bertsolaris in a scholarly analysis of the intersectionalities of female bertsolari. The ability to perform Basque improvisational poetry after being prohibited for years during the Franco era, and the first woman winning improvised poetry contest in 2009.This book was published with generous financial support from the Basque Government

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

BackgroundWhole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algorithms to maximise WES/WGS diagnostic yield in rare disease patients. Most tools devoted to this aim take advantage of patient phenotype information for prioritization of genomic data, although are often limited by incomplete gene-phenotype knowledge stored in biomedical databases and a lack of proper benchmarking on real-world patient cohorts.MethodsWe developed ClinPrior, a novel method for the analysis of WES/WGS data that ranks candidate causal variants based on the patient's standardized phenotypic features (in Human Phenotype Ontology (HPO) terms). The algorithm propagates the data through an interactome network-based prioritization approach. This algorithm was thoroughly benchmarked using a synthetic patient cohort and was subsequently tested on a heterogeneous prospective, real-world series of 135 families affected by hereditary spastic paraplegia (HSP) and/or cerebellar ataxia (CA).ResultsClinPrior successfully identified causative variants achieving a final positive diagnostic yield of 70% in our real-world cohort. This includes 10 novel candidate genes not previously associated with disease, 7 of which were functionally validated within this project. We used the knowledge generated by ClinPrior to create a specific interactome for HSP/CA disorders thus enabling future diagnoses as well as the discovery of novel disease genes.ConclusionsClinPrior is an algorithm that uses standardized phenotype information and interactome data to improve clinical genomic diagnosis. It helps in identifying atypical cases and efficiently predicts novel disease-causing genes. This leads to increasing diagnostic yield, shortening of the diagnostic Odysseys and advancing our understanding of human illnesses

ENTIRE CAPN3 GENE DELETION IN A PATIENT WITH LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A

International audienceLimb-girdle muscular dystrophy type 2A (LGMD2A) due to mutations in the CAPN3 gene is one of the most common of autosomal recessive limb-girdle muscular dystrophies. We describe a patient who had a typical LGMD2A phenotype and posterior compartment involvement on MRI. Different genetic analyses were performed, including microarray analysis. There was an apparently homozygous mutation in exon 24, c.2465G>T, p.(*822Leuext62*), and a lack of correlation in the disease segregation analyses. This suggested the presence of a genomic rearrangement. In fact, a heterozygous deletion of the entire CAPN3 gene was found. This novel deletion comprised the terminal region of the GANC gene and the entire CAPN3 gene. This finding points out the need to reconsider and adapt our current strategy of molecular diagnosis in order to detect these types of genomic rearrangements that escape standard mutation screening procedures

Euskal jokoa eta jolasa : transmitiendo una herencia vasca a partir del juego

Resumen tomado de la publicaciónSe presenta el programa Gaztamendu que persigue dar a conocer a los jóvenes de los centros vascos la realidad actual de Euskadi e integrar a las nuevas generaciones en la vida activa de las casas centrales (euskal etxeak). Se divide en doce capítulos, cuyo objetivo es el de difundir la cultura vasca a través del juego. Se trata de dar a conocer el mundo cultural lúdico de los niños y jóvenes en el País Vasco. Está dirigido a todos aquellos miembros de las euskal etxeak que se muestran especialmente interesados en favorecer e impulsar la participación de los niños y los jóvenes en la dinámica de sus comunidades. Se intenta crear un puente de unión entre el País Vasco y el resto de comunidades vascas dispersas por el mundo para generar nuevas ideas que permitan aumentar el protagonismo de los jóvenes vascos. Se muestran juegos, bailes, música y el juego de pelota vasca, como elementos distintivos de la cultura de Euskadi, así como los herri kirolak, las traineras, las actividades de montaña o los juegos de fiestas infantiles. Se presentan sus reglas, sus características y sus formas de jugar. Su práctica permite reflexionar sobre lo que esas modalidades de jokoa y jolasa pueden ofrecer en las comunidades de fuera del País Vasco.MadridBiblioteca de Educación del Ministerio de Educación, Cultura y Deporte; Calle San Agustín 5 -3 Planta; 28014 Madrid; Tel. +34917748000; [email protected]

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

Abstract Background Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algorithms to maximise WES/WGS diagnostic yield in rare disease patients. Most tools devoted to this aim take advantage of patient phenotype information for prioritization of genomic data, although are often limited by incomplete gene-phenotype knowledge stored in biomedical databases and a lack of proper benchmarking on real-world patient cohorts. Methods We developed ClinPrior, a novel method for the analysis of WES/WGS data that ranks candidate causal variants based on the patient’s standardized phenotypic features (in Human Phenotype Ontology (HPO) terms). The algorithm propagates the data through an interactome network-based prioritization approach. This algorithm was thoroughly benchmarked using a synthetic patient cohort and was subsequently tested on a heterogeneous prospective, real-world series of 135 families affected by hereditary spastic paraplegia (HSP) and/or cerebellar ataxia (CA). Results ClinPrior successfully identified causative variants achieving a final positive diagnostic yield of 70% in our real-world cohort. This includes 10 novel candidate genes not previously associated with disease, 7 of which were functionally validated within this project. We used the knowledge generated by ClinPrior to create a specific interactome for HSP/CA disorders thus enabling future diagnoses as well as the discovery of novel disease genes. Conclusions ClinPrior is an algorithm that uses standardized phenotype information and interactome data to improve clinical genomic diagnosis. It helps in identifying atypical cases and efficiently predicts novel disease-causing genes. This leads to increasing diagnostic yield, shortening of the diagnostic Odysseys and advancing our understanding of human illnesses

A novel mitochondrial outer membrane protein, MOMA-1, that affects cristae morphology in Caenorhabditis elegans

Relatively constant diameters of Caenorhabditis elegans mitochondria and their cristae are disrupted by mutations in a novel mitochondrial outer membrane protein, MOMA-1, and by mutations in a mitofilin homologue, which is anchored in the inner membrane. Genetic data suggest that these proteins act in the same pathway but localize to different membranes