Genoma digital

Utilizando la analogía del genoma humano, se reflexiona sobre la complejidad del genoma digital y sobre algunos aspectos que impiden una evolución más rápida y científica del mundo hipermedia. Animismo tecnológico, denominaciones inadecuadas, como páginas web, interfaces opacas..., invitan a una redefinición de los medios en soporte digital. La influencia del soporte sobre el medio viene dada por las nuevas posibilidades que ofrece, facilitando la materialización de hipotéticas paradojas, como la linealidad interactiva en la televisión digital. Hasta los cimientos del arte se remueven y redefinen. Revolución narrativa con unos atributos fundamentales (interactivo, multimedia, digital...) que permiten al clásico lector pasivo transmutarse en lectoautor, en coautor de los múltiples relatos hipermedia que propician las ya no tan nuevas tecnologías.Using the human genome analogy, you can reflect about digital genome complexity, applying this reflections about some aspects that prevent you from a quick and scientific development of hypermedia world. Technological animism, inappropriate definition, such as Web pages, pull interfaces..., make you think of a redefinition of the digital media. The influence of the vehicle about medium is marked with the new possibilities that it offers, making easy hypothetical paradoxes, like interactive linearity on digital television. Even art it is changed and redefined. Narrative revolution with singular attributes (interactive, multimedia, digital...) that allow the traditional reader to turn into a reader-author, co-author of multiple stories which propitiate the not so new technologies

Genoma humà

Els darrers temps s'esta parlant molt del mapa genètic deis éssers humans. En el següent article s'intenten explicar conceptes bàsics com ara què és una base o un gen o un cromosoma o una mutació, entre d'altres, en un intent per acostar el significat d'aquests termes a les persones que llegeixen aquesta revista. Tanmateix s'hi parla del gran esforç d'investigació realitzat per diver­sos països per aconseguir un mapa de tots els gens del genoma humà. L'objectiu dels investiga­dors és obtenir una llista completa de tots els gens humans i de les proteïnes codificades per ells per que serveixi com una especie de tau/a periòdica per a la investigació biomèdica i poder aplicar aquests coneixements en la prevenció i el tractament de diverses malalties

Analysis of DTC nutrigenetic services in Italy: state of the art, agreement to the ESHG statement and future outlooks

Background: In both USA and Europe operate companies selling Direct-to-consumer genetic tests (DTC). These tests are offered to healthy people aiming to identify predispositions to complex diseases and to take preventive measures. Several DTC-nutrigenetic tests (DNTs) are available on the market. They propose the definition of a personalized diet, on the basis of the investigated genetic variants, which would reduce the risk of developing those diseases which have been associated to specific genetic markers. However, the risk/benefit balance of exposing unselected population to genetic testing without any medical surveillance is far from be established. Furthermore, it lacks an accepted procedure to select which genetic markers needs to be investigated, to evaluate their specific role and, as consequence, to define a personalized diet. Within this context, the European Society of Human Genetics (ESHG) released a statement regarding the DTC tests that has been ratified by several national societies including the Italian one. 
In the present study we analyzed the DNT offered in Italy, the state of the art and the abidance with the ESHG statement. 
Methods: We queried web search engine for the DNT offered to italian population, portraying a non-specialized customer. We examined the DNTs vendor websites and/or directly contacted the companies to collect information on: 1) genetic marker essayed, 2) diseases and phenotypes considered and 3) kind of dietary advices provided. Finally, we evaluated the abidance to the ESHG statement. The study was conducted between November, 2010 and May, 2011.
Results: Six companies operate in Italy with a total of seven different DNTs offered. Both studied phenotypes and investigated genetic markers were very different among companies, with a relative higher level of agreement for phenotype than for genes. None of the companies described the methods used to select markers and to define diet advices. None of the companies showed a complete agreement to the statement of the ESHG. 
Conclusion: Although DNT companies' efforts are worthy, a standardization of methods and a more strictly agreement with ESHG statement should be encouraged

Genoma y variaciones

Un toque de arrogancia y un cierto descuido con las metáforas son rasgos que parecen distinguir a los biólogos moleculares a los ojos de sus colegas de otras ramas de la investigación biológica. Al menos esa idea rezuma de la brillante introducción de un largo ensayo que R. C. Lewontin publicó hace seis años en la New York Review of Books (XXXIX, n.º 10, 31-40, 1992) so pretexto de reseñar casi una decena de libros relacionados con el genoma humano y su secuenciación. Sin embargo, en respuesta a las flagrantes exageraciones que encerraban expresiones tales como «dogma central», «clave de claves» o «Santo Grial», utilizadas para referirse a las gracias del texto genético del ADN, Lewontin incurría en los mismos defectos que criticaba, encabezando su artículo a la brocha gorda: «Fetiche... Un objeto inanimado adorado por salvajes debido a sus supuestos poderes mágicos inherentes...»

Estructura del genoma

El genoma és una estructura altament dinàmica amb una certa tendència a la inestabilitat, i està, per tant, subjecte a l'escrutini de la selecció natural. En el camí d'entendre el genoma hem pogut observar el paper clau que tenen les repeticions (de tota mena) per comprendre l'evolució estructural del genoma humà i com es relaciona l'estructura i la funció. Així, recentment, hem pogut apreciar que, a part de les variacions clàssiques i els SNP (polimorfismes d'un sol nucleòtid), els mamífers (com a mínim els ratolins i els humans) tenim una estructura dels nostres genomes altament variable. L'estudi de les regions variants en nombre de còpia (structural variants o copy number polymorphism) ens ha permès observar que els canvis en l'estructura tenen repercussió en l'expressió dels gens, que es tradueixen tant en variabilitat fenotípica entre individus com, en casos més extrems, en malalties. En aquest capítol donarem una visió sobre l'estructura i el dinamisme del genoma, centrantnos en aspectes evolutius del polimorfisme humà i la malaltia.Every mammalian genome is an unstable and highly dynamic structure and therefore subjected to the strict evaluation of natural selection. In the last decades, we have changed our vocabulary and we have been using genomics instead of genetics, mainly because of the revolution on our research techniques. In the way of the understanding of the genomes, we realized how important repeats are and their role in the evolution of the structure of the human genome and how this structure and different functions are related. We have seen for instance that besides of the variation caused for SNPs (Single Nucleotide Polymorphism), the mammals (and specifically humans) are highly structural variant. The study of SVs (Structural Variant regions) and CNPs (Copy Number Polymorphisms) has allowed us to see that changes in structure have important consequences, from genomic diseases to simply affecting genes and its expression and hence, being responsible of the huge phenotypical variability observed among individuals. In this chapter, we will give our view on the structure and dynamism of the genome, from an evolutionary point of view, covering human polymorphism and diseases

Decifrando o genoma.

Os genes, unidades biologicas que determinam as caracteristicas de um organismo, estao contidos em moleculas de DNA presentes no nucleo das celulas. Portanto, o estudo do DNA e de fundamental importancia para o entendimento de como as caracteristicas de um organismo sao formadas. Com o grande avanco alcancado pelas tecnicas de Biologia molecular nas ultimas decadas, hoje, somos capazes de isolar e sequenciar moleculas de DNA de maneira rotineira. A partir da otimizacao das tecnicas de sequenciamento, surgiram programas com o objetivo de sequenciar genomas inteiros. atualmente, estao depositados em bancos de dados mais de 3 milhoes de sequencias de DNA e, grande parte delas ainda nao tem sua funcao conhecida. O processo de caracterizacao da funcao genica envolve um volume muito maior de pesquisas e conhecimentos do que as etapas de isolamento e sequenciamento. A funcao de um gene pode ser desvendada por meio de tecnicas de genetica direta ou reversa. Descrevem-se algumas das metodologias usadas para a caracterizacao da funcao genica, bem como o potencial dos programas de sequenciamento de genomas

Los secretos del genoma

El genoma es la tabla periódica de la biología sobre la cual vamos a conocer cómo funcionamos, qué riesgos tenemos para desarrollar enfermedades y cómo desarrollar las herramientas terapéuticas para combatirlas. Tal como expone el autor en este artículo, la medicina es la disciplina que va a obtener los principales avances y las principales ventajas del desciframiento del genoma. = The genome is a periodical table of biology that will inform us on how our bodies work, what are chances we have to develop certain illnesses and how to develop therapeutic tools to fight them. As the author describes, medicine is the discipline that will benefit from new and core advances resulting from deciphering the genome