UMW Newsletter Fall 08 by M7e5VIZ



                                                                                           October 2008

         Local Contacts
           Missy Anderson

               Co-Chair                          6th Annual
              Jim Hable                   Step Forward to Cure TSC        On Saturday, August 16, 2008 the

                                                                          4th Annual Kylie's Hope -
                                         On Saturday May 17, the 6th      Tournament for TSC Champions
                                         Annual Step Forward to Cure      took place. With more than 100
  Outreach and Awareness                                                  participants the event raised
                                         TSC in Minnesota raised
        Coordinator                      $61,000 with more than 300       $21,600!
              Laurie Hable               participants! This year the
                event took place at Harriet      Hats off to Maria, Neil and Kelly
                                         Island in St. Paul, which also   Gibbons and their incredible group
        Support Network                  included a 5k run.               of volunteers for another successful
           Facilitator                                                    event.
             Eileen Hable                Maria Gibbons did a great job              as walk chair with Missy         We would also like to thank their
            651-451-7878                 Anderson and Mary Anderson,      sponsors: Kids Abilities, Lord
                                         from Anderson Race               Fletchers, Medal Clad, Dr. Michael
                                         Management, coordinating the     and Janie Frost, Upland Family,
                                         run.                             Gibbons Family, Midwest Sign, Abra
            2nd Annual                                                    Auto/Quality Mfg., Esco Ear Service
  Blazin’ Buffalo Golf Tournament        Buffalo Wild Wings generously    Corp., Great Exteriors, Cottage
                                         provided lunch for all of the    Grove Police Department, and Joe
                                         walkers and runners. We also     Sensors for making this day
                                         want to thank Saturn for their   possible! Thanks again for another
                                         sponsorship.                     great year Gibbons family!

On Sunday, July 20, the 2nd Annual
Blazin' Buffalo Golf Tournament
benefiting the TS Alliance was a huge
success, with 80 participants raising
more than $10,000. The tournament
took place at Oak Marsh Golf Course in
Oakdale, MN.

Special thanks to Todd Kronebusch,
Vicki Zima, and Judy Shoulak from
Buffalo Wild Wings for making this
event take place!
         Save the Date
                                                   Study: Two or More Family Members with TSC
                                               Allelic Expression Imbalance (AEI) in Tuberous Sclerosis Complex (TSC).
  Taste of the Twin Cities                     This research project has been approved by the St. Joseph's Hospital and
   Food & Wine Tasting                         Medical Center IRB.

       WHEN: January 29, 2009                   Principal Investigator:                   Co-Investigator:
       WHERE: The Metropolitan                  Dr. Vinodh Narayanan, MD                  Dr. Garilyn M. Jentarra, PhD.
                                                Director, Tuberous Sclerosis Center       Research Associate
Sampling food and wine from chefs across        St. Joseph's Hospital and Medical         Developmental Neurogenetics
 the Twin Cities, bidding on silent & live      Center                                    Laboratory
auction items and enjoying live music will      Barrow Neurological Institute             Barrow Neurological Institute
   make this an evening to remember.            Phoenix, AZ, 85013                        Phoenix, AZ
 Sponsorship opportunities are available.

  For more information please contact:         Description of the Research Study: The goal of this research is to
            Missy Anderson                     understand the basis of variability in clinical severity among patients with                 TSC. There can be a considerable variation in severity even within a
                                               single family, where all affected individuals have the same gene
                                               mutation. It is not rare that a child will be evaluated by a neurologist for
     Online Community                          seizures, and a parent not even be aware of the fact that he/she might
                                               carry the same disorder, but milder. Several factors may contribute to
Don’t forget to get on the listserv if you     this phenotypic variability including the specific gene mutation, random
have questions or just want to be a part       occurrence of “second-hit” somatic mutations, influence of other
of information sharing. To do so, go to        “modifying genes” and environmental factors. and it will walk you
through the process.
                                               We hypothesize that allele-specific gene expression of the TSC genes
                                               plays an important role in modifying disease severity. In other words, a
                                               patient who expresses more of the normal gene (than the mutant gene)
                                               will have milder symptoms than a patient who expresses more of the
                                               mutant gene. We have already done some preliminary studies in normal
                                               individuals showing that the expression from the two alleles (gene
                                               copies) of the TSC genes is not 50:50.
For more information on local meetings
and events please visit our web page at:
                                               We are now recruiting families with more than one affected individual,
                                               especially those with a known genetic mutation. By this strategy, we
                                               hope to determine if the variation in severity correlates with the ratio of
                                               mutant: normal gene expression, in each family. We hope that this will
     Local Music Group,                        lead to a method for predicting clinical severity in newly diagnosed
         Quietdrive,                           patients.
    Donates to TS Alliance
                                               What is involved in the study?
On October 10 the Minneapolis based
music group, Quietdrive, release their
second CD, “Deliverance.” To kick off the      1). Explanation of the research study, and review of the informed
release and their world tour they                  consent documents.
performed a show at First Avenue where
both Quietdrive and First Avenue donated
                                               2). Interview (either in person or by telephone) to review the family
$495 of the ticket sales to the TS Alliance.
                                                   history, and the clinical features in affected individuals; this will
                                                   enable us to assign a “clinical severity score.”

                                               3). Obtain a blood sample from enrolled individuals – affected and
                                                   unaffected - (about 10 cc or 2 teaspoons) for RNA and DNA analysis,
                                                   to measure the ratio of mutant: normal gene expression.

                                                    Dr. Narayanan or Dr. Jentarra 602-406-3129 or 602-406-3130

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