Una nueva iniciativa secuenciará 10000 genomas enteros de personas con enfermedades genéticas raras

El proyecto sentará bases para la medicina genómica.

Este proyecto traerá enormes mejoras en la atención de pacientes con enfermedades genéticas raras. Se acorta la brecha entre los primeros signos de mala salud en una persona y proporcionar un diagnóstico definitivo utilizando el poder de los métodos modernos de secuenciación de ADN

Dr. John Bradley, Director del Centro de Investigación Biomédica en Cambridge NIHR

La Universidad de Cambridge, Inglaterra y genómica Illumina, Inc. anunciarón hace unos días el inicio de un proyecto de tres años que se secuencirá todo el genoma de 10.000 niños y adultos con enfermedades genéticas raras. El proyecto  de Genómica Inglaterra, proporcionará 2.000 muestras, y marcará el comienzo de la iniciativa nacional para secuenciar genomas 100.000 en el Servicio Nacional de Salud del Reino Unido (NHS), ha anunciado recientemente por el primer ministro, David Cameron. 

«Este proyecto traerá enormes mejoras en la atención de pacientes con enfermedades genéticas raras. Se acorta la brecha entre los primeros signos de la mala salud de una persona y que proporcionan un diagnóstico definitivo utilizando el poder de los métodos de secuenciación de ADN modernos «, dijo el Dr. John Bradley, Director del Centro de Investigación Biomédica NIHR Cambridge, una asociación entre la Universidad de Cambridge y Hospitales de la Universidad de Cambridge.

Hoy en día, la mayoría de los pacientes con una enfermedad genética rara pasan por una odisea de diagnóstico para determinar la causa. Para muchos, la larga búsqueda se mantiene sin éxito, que no sólo impide la prestación de una atención óptima, pero también puede agravar la condición. Para mejorar la atención al paciente en el Servicio Nacional de Salud del Reino Unido (NHS), la Universidad de Cambridge trabajará con el equipo dirigido por el doctor David Bentley, Vicepresidente y Director Científico de Illumina, para desarrollar el flujo de trabajo y procesos para lograr la rutina clínica genoma entero secuenciación a la cama.

Illumina entregará toda la secuencia del genoma de datos para el proyecto utilizando la tecnología líder en el mercado inventado en Cambridge. «En 1997, la secuenciación completa del genoma de una persona en el marco de la asistencia sanitaria era sólo una idea y siempre ha sido mi esperanza de que algún día se convertiría en realidad y benefician a miles de pacientes», dijo Shankar Balasubramanian, profesor de química en la Universidad de Cambridge y el inventor de la secuenciación mediante la técnica de síntesis que se utiliza por los instrumentos de Illumina para leer el código de ADN.

«Estamos muy contentos de poder colaborar en este proyecto innovador para descubrir los genes que subyacen a las enfermedades genéticas raras, que pueden llevar a ofrecer nuevas pruebas y preparar el camino para nuevas oportunidades de tratamiento», dijo el profesor Mark Caulfield, director científico de Genómica de Inglaterra. 

Se estima que hay 7.000 enfermedades raras y alrededor de 3,5 millones de personas en el Reino Unido se verán afectados por una enfermedad rara en algún momento de su vida.

«Estoy seguro de que la investigación médica pionera por médicos, enfermeras y científicos de todo el Reino Unido recibirán un amplio apoyo de la comunidad de las enfermedades raras», dijo Alastair Kent de Enfermedades Raras Reino Unido.

Sarah-Jane Marsh, director ejecutivo de Children Hospital de Birmingham agregó: «Más del 5 por ciento de los bebés nacen con una enfermedad genética. Por el momento, también muchas de las familias afectadas no pueden acceder a los mejores diagnósticos y tratamientos disponibles.»

El Proyecto Genoma Enfermedades Raras ayudará a llenar este vacío, y hacer que el NHS en un líder mundial en el cuidado de las enfermedades raras. La acumulación de conocimientos que se pueden obtener de la recolección de estos datos va a mejorar el tratamiento para muchos pacientes en el SNS y en todo el mundo.

Artículo publicado bajo licencia Creative Commons Licence

886 comentarios en “Una nueva iniciativa secuenciará 10000 genomas enteros de personas con enfermedades genéticas raras”

  1. Do you mind if I quote a couple of your articles as long asI provide credit and sources back to your website?My blog site is in the very same niche as yours and my users would certainly benefit from some of the information you present here.Please let me know if this okay with you. Thanks!

  2. I am sure this post has touched all the internet people, its really really pleasant article on building up new web site.

    Also visit my web page Nicholl

  3. I do not know whether it’s just me or if perhaps everyone
    else encountering issues with your website. It looks like some of the text within your posts are running off the
    screen. Can somebody else please comment and let me know if this is happening to them as well?

    This might be a issue with my internet browser because I’ve had
    this happen previously. Cheers

    Feel free to visit my webpage Johnanna

  4. Have you ever thought about including a little bit more than just your articles?
    I mean, what you say is valuable and all. However imagine if you added some great photos or videos to
    give your posts more, «pop»! Your content is excellent but with images and videos, this
    blog could definitely be one of the greatest in its field.
    Awesome blog!

    Here is my homepage … Syretta

  5. Hey would you mind letting me know which web host you’re using?
    I’ve loaded your blog in 3 completely different browsers
    and I must say this blog loads a lot faster
    then most. Can you suggest a good internet hosting provider
    at a reasonable price? Kudos, I appreciate it!

    my blog … Antwyne

  6. Johncharles

    Hi there, You’ve done a great job. I’ll definitely digg it and personally suggest
    to my friends. I am sure they’ll be benefited from
    this web site.

    Also visit my webpage :: Dystany

  7. Do you mind if I quote a couple of your posts as long as I
    provide credit and sources back to your website? My blog is
    in the exact same niche as yours and my users would really benefit from some of the information you provide here.
    Please let me know if this ok with you. Thank you!

    Feel free to visit my web-site – Erienne

  8. I know this website gives quality based articles or reviews and additional material, is there any other site which gives these stuff in quality?

    Also visit my web blog Fatemeh

  9. It’s hard to come by well-informed people on this topic, however, you seem like you know what you’re talking about!
    Thanks

    Feel free to visit my page; Janean

  10. I enjoy what you guys are up too. This kind of clever work and coverage!

    Keep up the fantastic works guys I’ve added you guys to my own blogroll.

    Also visit my site: Laquinton

  11. With havin so much content and articles do you ever run into any
    problems of plagorism or copyright violation? My site
    has a lot of completely unique content I’ve either authored myself or
    outsourced but it appears a lot of it is popping it up all
    over the internet without my permission. Do you know any techniques to help prevent content from being
    ripped off? I’d certainly appreciate it.

    Look into my web-site Walter

  12. We’re a bunch of volunteers and opening a new scheme
    in our community. Your web site provided us with helpful info to
    work on. You’ve done an impressive job and our entire group might be thankful to you.

    Feel free to surf to my site: Deirdre

  13. That is very interesting, You’re an overly skilled blogger.
    I have joined your feed and stay up for searching for extra of your wonderful post.
    Additionally, I’ve shared your website in my
    social networks

    Stop by my blog post; Aigner

  14. Hi to every body, it’s my first pay a visit of this webpage; this weblog includes awesome and really excellent stuff designed
    for readers.

    Visit my web-site; Marlina

  15. Hi there, I discovered your blog via Google while looking for a similar topic, your site got here up, it seems to be great.
    I’ve bookmarked it in my google bookmarks.
    Hi there, just become alert to your weblog through Google,
    and located that it is truly informative. I am gonna be careful for brussels.
    I’ll appreciate in the event you proceed this in future.

    A lot of other people will likely be benefited from
    your writing. Cheers!

    Also visit my web site Ennifer

  16. Hello there! I know this is kinda off topic but I’d figured I’d ask.
    Would you be interested in exchanging links or maybe guest writing a blog post or vice-versa?
    My website goes over a lot of the same subjects as yours and I believe we could greatly benefit from each other.
    If you happen to be interested feel free to shoot me an e-mail.
    I look forward to hearing from you! Superb blog by the way!

    Also visit my web blog: Jada

  17. After looking at a number of the articles on your web site, I seriously appreciate your way of blogging.

    I book-marked it to my bookmark website list and will be checking
    back in the near future. Take a look at my website as well
    and tell me what you think.

    Here is my homepage – Alek

  18. Good day very cool blog!! Guy .. Beautiful .. Superb .. I will bookmark your site
    and take the feeds also? I am glad to seek out numerous useful information right here within the put up, we want work out more techniques in this
    regard, thank you for sharing. . . . . .

    Stop by my webpage Kaylan

  19. fantastic publish, very informative. I’m
    wondering why the other experts of this sector don’t
    realize this. You must proceed your writing. I’m confident, you’ve a huge readers’ base already!

    my web site; Domanique

  20. Just desire to say your article is as amazing. The clarity
    for your publish is simply great and that i could think you are a professional in this subject.
    Fine together with your permission allow me to clutch
    your RSS feed to stay up to date with impending post.
    Thanks a million and please carry on the
    gratifying work.

    Also visit my page; Raja

  21. Hello there, just became alert to your blog through Google,
    and found that it is truly informative. I am going to watch out for brussels.
    I will appreciate if you continue this in future. A lot of people will be benefited
    from your writing. Cheers!

    Also visit my homepage :: Rosemaria

  22. Please let me know if you’re looking for a article writer for your blog.
    You have some really good posts and I believe I
    would be a good asset. If you ever want to take some of the load off, I’d absolutely love to write some articles for your blog in exchange for
    a link back to mine. Please shoot me an e-mail if interested.

    Cheers!

    my web blog … Darrin

  23. Hi, after reading this awesome paragraph i am too happy to share my knowledge here
    with friends.

    my web site: Carma

  24. Hey there, I think your site might be having browser compatibility issues.
    When I look at your blog site in Ie, it looks fine but when opening in Internet Explorer, it has some overlapping.

    I just wanted to give you a quick heads up! Other then that, great blog!

    Feel free to surf to my web blog … Brook

  25. Nice post. I was checking continuously this blog and
    I’m impressed! Extremely useful information specifically the last part 🙂
    I care for such info a lot. I was seeking this particular info for a very long time.
    Thank you and good luck.

    Here is my webpage … Merrill

  26. If you are going for most excellent contents like me, only go to see this
    web site daily because it presents feature contents, thanks

    my web site … Roger

  27. An outstanding share! I have just forwarded this onto a colleague
    who has been conducting a little homework on this. And he in fact ordered me breakfast due to
    the fact that I discovered it for him… lol. So allow me to reword this….
    Thank YOU for the meal!! But yeah, thanx for spending time to talk about this topic here on your site.

    My web blog … Carla

  28. Thanks for some other wonderful article. The place else may just anybody
    get that kind of info in such an ideal method of writing? I have a presentation subsequent week, and
    I am on the search for such info.

    Also visit my blog post :: Son

  29. It’s very simple to find out any matter on net as compared to
    books, as I found this article at this web page.

    Also visit my web page; Salvador

  30. Pretty part of content. I simply stumbled upon your web site and in accession capital to assert that I get in fact
    enjoyed account your blog posts. Any way I’ll be subscribing on your augment and
    even I achievement you get entry to consistently
    fast.

    Look at my web site; Yanira

  31. With havin so much content do you ever run into any issues of plagorism
    or copyright infringement? My site has a lot of exclusive content I’ve either
    written myself or outsourced but it seems a lot of it is
    popping it up all over the internet without my agreement.
    Do you know any methods to help prevent content from being stolen? I’d certainly appreciate
    it.

    Feel free to visit my blog post :: Jamel

  32. Heya! I just wanted to ask if you ever have any trouble with hackers?
    My last blog (wordpress) was hacked and I ended up losing many months of hard work due to
    no backup. Do you have any solutions to protect against
    hackers?

    My blog … Caleb

  33. At round the identical time, a fanzine called It is going to Stand (from the music
    of that name by The Showmen) began to delve into the historical past of seashore music.
    Can you identify it? Napster is now back in business as a legal, pay-per-song
    music-download site; but it as soon as was a controversial
    service that spurred what is still certainly one of the best Internet-related debates: Just because we will get the music we wish
    with out paying for it, ought to we? The music business
    was against Napster because people might get music totally free as a substitute
    of paying $15 for a CD. What started in 1999 as an concept in the pinnacle of a teenager proceeded to redefine the Internet, the
    music industry and the way all of us think about intellectual property.
    It’s a incontrovertible fact that thousands of people have been,
    by Napster, making thousands of copies of copyrighted songs,
    and neither the music trade nor the artists acquired any cash in return for those copies.

    my homepage; musicmeter

  34. Charlestriek

    india online pharmacy [url=https://indiapharm.life/#]cheapest online pharmacy india[/url] top 10 pharmacies in india