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Thread: Genetic Research @ Johns Hopkins

  1. #1
    Join Date
    Sep 2003
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    Hanover, MA
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    Genetic Research @ Johns Hopkins

    In 1996/1997 as a result of our "Cycling for the Cause" Bike across America campaign we assisted Dr Nancy Miller at Johns Hopkins Hospital with $60,000 in funding and more importantly helped locate the majority of two hundred families who had multiple affected family members over several generations.

    Dr Miller has done a fantastic job obtaining the DNA from these families and conducting and reporting on very valuable genetic research to help find the etiology (cause) of scoliosis.

    This project is not yet over, and in fact Dr Miller is looking for more families that have two or more generations of people with scoliosis.

    If your family fits this criteria please post your information in this thread about who in the family has scoliosis along with the degree of curve, if you know it, and what form of treatment they may have had. Dr Miller or someone from her lab will contact you with further details.

    Thank you for your help in this very vital matter.
    Last edited by Joe O'Brien; 09-20-2003 at 07:51 PM.
    Best Regards,

    JOB

  2. #2
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    You can contact Dr. Miller's lab by clicking on the email link here:

    http://www.hopkinsmedicine.org/ais/

    --Linda
    Never argue with an idiot. They always drag you down to their level, and then they beat you with experience. --Dilbert
    I'm sarcastic... what's your super power? --Unknown
    ---------------------------------------------------------------------------------------------------------------------------------------------------
    Surgery 2/10/93 A/P fusion T4-L3
    Surgery 1/20/11 A/P fusion L2-sacrum w/pelvic fixation
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    If you've signed up and are having trouble posting, please check your spam folder. An email was sent to the email address which you subscribed. You have to follow the instructions in that email. Done that and still having trouble posting? Contact Joe O'Brien at jpobrien@scoliosis.org.

  3. #3
    Join Date
    Nov 2003
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    Philadelphia area
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    I am very interested in this line of research. I uncovered the following abstract which reports a genetic locus for idiopathic scoliosis. Does Dr. Miller confirm this finding? [hyperlink at bottom]

    Hum Genet. 2002 Oct;111(4-5):401-4. Epub 2002 Aug 21. Related Articles, Links


    Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11.

    Salehi LB, Mangino M, De Serio S, De Cicco D, Capon F, Semprini S, Pizzuti A, Novelli G, Dallapiccola B.

    Department of Experimental Medicine and Pathology, University La Sapienza, Rome, Italy.

    Idiopathic scoliosis (IS) is a spine deformity of unknown etiology. Family studies have suggested that IS may be inherited as a mendelian autosomal dominant trait. We have performed linkage analysis on a three-generation IS Italian family. A positive LOD score value of 3.20 at theta=0.00 was detected with marker D17S799 after a genome-wide scanning. Analysis of six flanking microsatellites confirmed the linkage and haplotype inspection defined an interval of about 20 cM between D17S947 and D17S798. This is the first locus reported for IS. We scored genes mapping in this interval and studied the heparan sulfotransferase genes as candidates on the basis of their biochemical role. No causative mutation was detected in the affected patients.


    [URL=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&li st_uids=12384783]

  4. #4
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    Sep 2003
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    Hanover, MA
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    Genetic Research-John Hopkins

    My mother has a very slight thoracic curve. I had a 40+ lumber and 26+ compensatory. My niece has an S-curve also, had 1 or 2 vertebrae fused to try to stop progression. She also is going through genetic testing for marfans syndrome.

  5. #5
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    Jun 2005
    Location
    las vegas, nevada
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    i was diagnosed and treated surgically (45+ degree s curve) at shriners san francisco in the mid '80's. my sister was also diagnosed w/scoliosis, but thankfully no intervention was needed. my son was diagnosed w/having scoliosis just a few ago. however, we dont know how severe yet. i would be willing to answer any questions and participate in your study.

  6. #6
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    Mar 2005
    Location
    Kannapolis, North Carolina, near Charlotte
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    I am probably not a good candidate, but I'll offer anyway. I am 49 with a very low amount of scoliosis, which I used to think was major, until my daughter got it. Mine is arount 10 degrees, probably. My daughter is scheduled for surgery July 18 with 69 degree curve and progressing. Good luck with the research. Maybe researchers can make my grandchildren's lives better, many, many years from now, that is! Kris

  7. #7
    Join Date
    May 2005
    Posts
    4

    family tree

    I have scoliosis--corrected and recorrected to 49 degrees thoracic and about 50 lumber. All my sisters have/had some degree of curvature--one wore a body brace in junior high. My dad's an only child but several of his paternal aunts had scoliosis--I don't know to what degree.

  8. #8
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    Sep 2003
    Location
    Fernley, Nevada
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    352

    Unhappy

    OK, I put my 2c in
    I had an A/P done in 2002, prior to that harrington in '83. My sister had a/p done in late '90's. My father and his brother have very mild scoli since childhood. My paternal grandmother also had moderate scoli..by the looks of her photos. On my maternal side my Mom is OK, but her sister has a conginitally fused vert. Of my maternal Aunt's children her youngest of 3, the only boy has moderate scoli. He wore a milwalkie (sp) brace thru high school.

    Quite the family history
    SandyC

  9. #9
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    Hi...

    I wanted to be sure that you all know that you'll need to contact Dr. Miller if you're interested in participating. You can find her contact information here:

    http://www.hopkinsmedicine.org/ortho...ry/miller.html

    Regards,
    Linda

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