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posted by martyb on Friday May 27 2016, @04:39PM   Printer-friendly
from the modern-miracles dept.

A study published in the New England Journal of Medicine is one of the first to show the life-changing benefits of genome-wide sequencing for children with certain kinds of intellectual disability. The work was led by researchers at BC Children's Hospital, an agency of the Provincial Health Services Authority, and the University of British Columbia.

The researchers diagnosed 68 per cent of the 41 families in the study with the precise underlying genetic condition and, based on this, were able to offer targeted treatments to more than 40 per cent of cases. They also discovered 11 new disease genes and described new physical traits and symptoms associated with a number of known diseases. ...Some people's intellectual disability is due to rare genetic conditions that interfere with the processes the body uses to break down food. Because of these metabolic dysfunctions, there is an energy deficit and build-up of toxic substances in the brain and body leading to symptoms such as developmental and cognitive delays, epilepsy, and organ dysfunction. Some of these rare diseases respond to treatments targeting the metabolic dysfunction at the cellular level and range from simple interventions like dietary modifications, vitamin supplements and medications to more invasive procedures like bone marrow transplants. Because the right treatment can improve cognitive functioning or slow or stop irreversible brain damage, early intervention can improve lifelong outcomes for affected children and their families.


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  • (Score: 1, Offtopic) by Runaway1956 on Friday May 27 2016, @05:01PM

    by Runaway1956 (2926) Subscriber Badge on Friday May 27 2016, @05:01PM (#351671) Journal

    I don't care how politically incorrect it might be. I will exercise my "smart privilege", and damn the disabled. I'm not going to drive my car into a tree, and piss away my privilege. No holding firecrackers until they explode in my hand. None of the crazy crap that the disabled do routinely. I'm just going to keep exercising my privilege.

    • (Score: 3, Touché) by ikanreed on Friday May 27 2016, @05:18PM

      by ikanreed (3164) Subscriber Badge on Friday May 27 2016, @05:18PM (#351683) Journal

      And yet you hold political views commiserate with sever intellectual stunting, why's that?

      • (Score: 2) by Runaway1956 on Friday May 27 2016, @05:26PM

        by Runaway1956 (2926) Subscriber Badge on Friday May 27 2016, @05:26PM (#351689) Journal

        Politics and intellect have never been demonstrated to have any relationship with each other - despite a lot of people claiming so.

        Commiserate? Didn't you mean to say commensurate? That's alright - I'm fortunate enough to have an intellect, so I was able to determine your meaning.

        • (Score: 0) by Anonymous Coward on Friday May 27 2016, @05:30PM

          by Anonymous Coward on Friday May 27 2016, @05:30PM (#351692)

          You are, right political persuasion does not necessarily correlate with intellect. But specific beliefs do. You believe a lot of stupid, it just happens to be highly political stupid.

          Also, grammar and spelling flames are for those who can't argue merits. As you said, the meaning was clear.

        • (Score: 3, Funny) by Azuma Hazuki on Friday May 27 2016, @05:46PM

          by Azuma Hazuki (5086) on Friday May 27 2016, @05:46PM (#351701) Journal

          Remember, Runaway, INT and WIS are separate dice, and lack of one does not make up for another :) My mother may only have an IQ of 110-115 or so, but she is one of the wisest people I know.

          ...I, of course, made the classic mistake of making CHA and LCK my dump stats and pumping INT first and WIS second, only to remember too late that there is no magic in this world and what passes for PSI is just insanely well-trained intuition. Which does me very little good aside from being the real-world equivalent of a low-level Detect Evil passive.

          --
          I am "that girl" your mother warned you about...
        • (Score: 2) by ikanreed on Friday May 27 2016, @05:48PM

          by ikanreed (3164) Subscriber Badge on Friday May 27 2016, @05:48PM (#351704) Journal

          I was just giving you a hard time, because it seemed fun.

          • (Score: 2) by Gaaark on Friday May 27 2016, @09:08PM

            by Gaaark (41) on Friday May 27 2016, @09:08PM (#351769) Journal

            That's what 'he'(?) said!

            --
            --- Please remind me if I haven't been civil to you: I'm channeling MDC. ---Gaaark 2.0 ---
    • (Score: 0) by Anonymous Coward on Friday May 27 2016, @07:37PM

      by Anonymous Coward on Friday May 27 2016, @07:37PM (#351746)

      I think the one demonstrating an intellectual disability here is you. I skimmed through TFA earlier, and it looks like the important bit is also in TFS. What they're talking about is identifying specific conditions that can be corrected through vitamin supplements or other dietary measures for the most part.

      Are you saying that these kids don't deserve to have their problem corrected so they may reach their full potential? Why don't you want them to also have smart privilege?

      • (Score: 0) by Anonymous Coward on Friday May 27 2016, @08:27PM

        by Anonymous Coward on Friday May 27 2016, @08:27PM (#351757)

        Because SJWs! And libtards!
        And moooslims!!!!

        • (Score: 0) by Anonymous Coward on Friday May 27 2016, @08:57PM

          by Anonymous Coward on Friday May 27 2016, @08:57PM (#351761)

          The SJW libtard disease-curing mooooooslims are gonna getcha!

          • (Score: 2) by Gaaark on Friday May 27 2016, @09:10PM

            by Gaaark (41) on Friday May 27 2016, @09:10PM (#351773) Journal

            The SJW libtard disease-curing mooooooslims are gonna getcha!

            And why are all these cows out to get us?

            Oh yeah, burgers.

            --
            --- Please remind me if I haven't been civil to you: I'm channeling MDC. ---Gaaark 2.0 ---
  • (Score: 0) by Anonymous Coward on Friday May 27 2016, @05:35PM

    by Anonymous Coward on Friday May 27 2016, @05:35PM (#351697)

    Seems misleading. They found these genes in people with disabilities, but it sounds like they were just looking at people with disabilities. How about all the people with those genes who are not disabled? Was that measured?