View Full Version : Genetic Research @ Johns Hopkins

Joe O'Brien
09-20-2003, 10:47 AM
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.

09-20-2003, 12:13 PM
You can contact Dr. Miller's lab by clicking on the email link here:



11-29-2003, 11:24 PM
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.


Lee Gurney
06-13-2004, 10:39 AM
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.

mai juarez
06-29-2005, 02:38 PM
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.

06-29-2005, 06:29 PM
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

07-28-2005, 09:10 PM
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.

07-29-2005, 10:44 AM
OK, I put my 2c in :D
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 :(

07-31-2005, 09:06 PM

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: