Friday, June 01, 2007

First human diploid DNA genome, deciphered.

Left : Photo an text, taken fron NYT


The standard reference of the human genome (still effective), includes a mixture of anonymous donors coming from Buffalo (incapable now to be correlated with medical information of 1 single person). However, in the next months the scientific world will have the 2 first complete human genomic sequences (those of James D. Watson and J. Craig Venter, ex- president of Celera Corporation, a private Human Genome Project, rival of the governmental American). I) In Celera, Venter (2001) worked a small version of his genome and now he is completing it in his Institute of Rockville-Md, keeping the information in GenBank, a public database. Venter said that his genome was assembled of scratch, identifying more differences than the hoped ones, including them in unique units of DNA: extras or absentees. “We have underestimated the extension of the human variation”, said Venter. The real thing is that the genome of Venter could get to become the new human standard genome of reference. II) The complete genome of Watson (codiscoverer of the structure of the DNA and first Director of the Human Project Genome, completed the 2003), was deciphered -using a sequence machine created by 454 Life Sciences- in hardly 2 months to a cost of less than $1 million “opening the doors towards a personalized genomic medicine”, said Michael Egholm, vice president of investigation of 454 LS. 2 days ago, Watson received from hands of Richard A. Gibbs, Director of Human Genome Sequencing Center at Baylor College of Medicine and of Jonathan M. Rothberg, 454 founder of Life Sciences, the data of his copy genome registered in 2 DVDs. Watson, said: “I am astonished to see my genome” adding that he will make it available to all, so that they study it (with the only exception of his gene of Apolipoprotein E, whose state prearranges to the disease of Alzheimer).

Watson wishes that more individual genomes be sequenced to understand better mental diseases (schizophrenia), urging to others to place the data of their complete genomes in registries, so that their physical and mental qualities be correlated with their DNAs. Yesterday in Houston, Watson urged to that but individual human genomes become public including the one of successful people or others of medical interest. Now Watson, can ask to any pharmaceutical company to prepare his antihypertensive or chemotherapy medicines custom-made to him (he had skin cancer), to choose environment to live or to recreate adequate lifestyles to the characteristics of his genome. By the way Watson and Venter run risks when putting their genomes to disposition of the public (mutations causes of diseases or unfavorable imperfections for him and their relatives). The genomes of both are diploids (DNA, inherited of both parents. The genome of the Human Project did not capture these differences). A 3,5% of the genome of Watson could not to be correlated with the present standard genome of reference, because they had to extend his DNA -letting it grow in bacterias- where they could lose many regions because of the toxic effect of the DNA for the bacteria. Innovatingly, the 454 sequence machine, bypass entirely the bacterial stage, releasing to the sequences of this bias. Venter said that it is possible that in 454 LS company, short lengths of Watson’s DNA, were assembled comparing it with the standard sequence of reference, being also possible that they could not have detected certain structural errors. Egholm says that improving the 454 sequence machine will be made possible to obtain genomes to $10.000, in few years. Life Sciences and Solexa Inc.(filial of Illumina) works this aim.

Descifrado el primer genoma individual humano diploide.

La referencia standard del genoma humano (aún vigente), comprende una mixtura de donadores anóminos procedentes de Buffalo (incapáz de ser correlacionada con información médica de 1 sola persona). Empero, en los próximos meses el mundo cientifico dispondrá de las 2 primeras secuencias genómicas humanas completas (las de James D. Watson y J. Craig Venter, ex presidente de Celera Corporation, que trabajó un Proyecto Genoma Humano privado, rival del gubernamental americano). I) En Celera Venter, trabajó una pequeña versión de su genoma (2001) y ahora la está completando en su Instituto de Rockville, guardando la información en GenBank, una base de datos pública. Venter dijo que su genoma fue ensamblado del scratch, identificando más diferencias que las esperadas, incluyéndolas en unidades únicas de DNA : extras o, ausentes. “Hemos subestimado la extensión de la variación humana”, dijo Venter. Lo real es que el genoma de Venter podria llegar a convertirse en el nuevo genoma standard humano de referencia. II) El genoma completo de Watson (codescubridor de la estructura del DNA y primer Director del Proyecto Genoma Humano, completado el 2003), fué descifrada empleando una máquina secuenciadora creada por 454 Life Sciences- en apenas 2 meses a un costo de menos de $1 million “abriendo las puertas hacia una medicina genómica personalizada”, dijo Michael Egholm, vice presidente de investigación de 454 LS. Hace 2 dias, Watson recibió de manos de Richard A. Gibbs, Director of Human Genome Sequencing Center at Baylor College of Medicine y de Jonathan M. Rothberg, fundador de 454 Life Sciences, los datos de su genoma en copias registradas en 2 DVDs. Watson, dijo : “Estoy asombrado de ver mi genoma” agregando que lo pondrá a disposición de todos, para que lo estudien (con la única excepción de su gene de Apolipoprotein E, cuyo estado predispone a la enfermedad de Alzheimer).

Watson desea que se secuencien más genomas individuales para comprender mejor las enfermedades mentales (esquizofrenia), urgiendo a otros a colocar los datos de sus genomas completos en registros, de modo que sus cualidades fisicas y mentales sean correlacionadas con su DNA. Ayer en Houston, Watson instó a que mas genomas humanos individuales se hagan publicos incluyendo el de personas exitosas u otras de interes médico.Ahora Watson, podra solicitar a cualquier compañía farmacéutica le preparen sus medicamentos antihipertensivos o quimioterápicos a la medida (tuvo cáncer de piel), escoger medios ambientes para vivir o recrear estilos de vida mejor adpatados a las caracteristicas de su genoma. Por cierto Watson y Venter corren riesgos al poner sus genomas a disposición del público (mutaciones causantes de enfermedades o imperfecciones desfavorables para ellos y sus parientes). Los genomas de ambos son diploides (DNA, heredado de ambos padres. El genoma del Proyecto Humano no capturó estas diferencias). Un 3.5 % del genoma del Watson no podria ser correlacionado con el genoma standard actual de referencia, porque se tendria que ampliar su DNA -haciendolo crecer en bacterias- donde podrian perderse muchas regiones del DNA por ser tóxicos a las bacterias. Innovadoramente, el secuenciador 454, bypassea enteramente el estadio bacteriano, liberando a las secuencias de este sesgo. Venter dijo que en la compañía 454, habrian ensamblado el genoma de Watson comparando cortas longitudes de su DNA, con la secuencia standard de referencia, siendo posible que no pudiesen haber detectado ciertos errores estructurales. Egholm dice que mejorando la maquina secuenciadora 454 se podrán lograr genomas a $10,000, en pocos años. En ello trabajan 454 Life Sciences y Solexa Inc. (filial de Illumina Inc).

1 comment:

Anonymous said...

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