National Institute of Health Natural History Study

The goals of this grant are to understand the core clinical features of each disorder, identify if there are any treatments that can improve quality of life, and to understand the link between symptoms and brain imaging/eeg variations. The reason it is so critical that as many individuals with a FOXG1 mutation join this study is due to our long-term research plan.

We need to have several keys lined up to unlock our ultimate goal, finding treatments and a cure:

  • access to confirmed patients
  • studies that have published research on phenotypes (definition: observable classic physical/behavioral signs and/or symptoms of a person afflicted with a FOXG1 mutation)
  • availability of clinicians that are aware of the syndrome
  • researchers have easy, inexpensive access of our mouse model that has been characterized behaviorally and biochemically


    As you can see, your participation in the Natural History Study will form the first two keys, and, in turn, will also lead to the third key, clinicians aware of the Syndrome. The final key, easy access to the mouse, is also in the works. Dr. Neul will receive the mouse in 2017, and will first behaviorally and biochemically characterize the mouse prior to beginning his research. We will then store sperm at the The Jackson Laboratory for researchers to be able to purchase at a low cost and start their own breeding colonies for studies.

    Please, enroll in the Natural History Study (at no cost to you) as soon as possible to be a part of our keys for a cure.

    Clinic Locations

    Alabama

    University of Alabama at Birmingham

    Institution : University of Alabama at Birmingham

    Principal Investigator : Alan K. Percy, MD
    Project Manager : Jane Lane, BSN, RN
    Contact : Jane Lane, BSN, RN
    Address : 1720 2nd Avenue South, CIRC 320
    Birmingham, AL 35294-0021
    Phone : (800)-822-2472 ext#7
    Fax : (205)-975-6330
    Email : apercy@uab.edu & jlane@uab.edu

    California

    University of California

    Institution : University of California, San Diego

    Principal Investigator : Jeffrey Neul, MD, PhD
    Contact : Karen Ditslear, MS
    Address : 9500 Gilman Drive M/C 0626
    La Jolla, CA 92093-0626
    Phone : (858)-246-2288
    Email : jneul@ucsd.edu & kditslear@ucsd.edu

    UCSF Benioff Children’s Hospital of Oakland

    Institution : UCSF Benioff Children’s Hospital Oakland

    Principal Investigator : Mary Jones, MD
    Contact : Erica Robertson
    Address : 747 52nd Street
    Oakland CA 94609
    Phone : (925)-979-4055
    Fax : (925)-979-4059
    Email : mdjpedidoc@aol.com & ERobertson@mail.cho.org
    Sub-investigators : Audrey Brumback, MD

    Colorado

    School of Medicine Children’s Hospital Colorado

    Institution : University of Colorado
    www.childrenscolorado.org
    www.medschool.ucdenver.edu

    Principal Investigator : Tim Benke, MD, PhD
    Address : 12800 E. 19th Avenue
    Aurora, CO 80045
    Phone : (303)-724-3568
    Fax : (720)-777-7285
    Email : tim.benke@ucdenver.edu

    Contact : Gina VanderVeen
    Address : 12800 E. 19th Avenue
    Aurora, CO 80045
    Phone : (720)-777-5514
    Fax : (720)-777-7285
    Email : Gina.VanderVeen@childrenscolorado.org & rettclinic@childrenscolorado.org

    Illinois

    Rush University

    Institution : Rush University Medical Center
    www.rush.edu

    Principal Investigator : Peter Heydemann, MD
    Address : 1725 West Harrison, Suite 718
    Chicago, IL 60612
    Phone : (312)-942-4036
    Email : peter_heydemann@rush.edu

    Co-Principal Investigator : Elizabeth Berry-Kravis, MD
    Address : 1725 West Harrison, Suite 718
    Chicago, IL 60612
    Phone : (312) 942-4036
    Email : Elizabeth_berry-kravis@rush.edu

    Contact : Susan Rohde
    Address : 1725 West Harrison, Suite 718
    Chicago, IL 60612
    Phone : (312) 942-0079
    Fax : (312) 942-4168
    Email : susan_rohde@rush.edu

    Maryland

    Rettsyndrome.org

    Institution : Rettsyndrome.org

    Principal Investigator : Steven Kaminsky, PhD
    Contact : Mary Joyce Griffin
    Institution : Rettsyndrome.org
    Address : 3 Bethesda Metro Center, Suite 700
    Bethesda, MD 20814
    Phone : (301)-961-1559
    Fax : (513)-874-2520
    Email : skaminsky@rettsyndrome.org & mgriffin@rettsyndrome.org

    Massachusetts

    Children’s Hospital of Boston

    Institution : Children’s Hospital of Boston

    Principal Investigator : Mustafa Sahin, MD
    Contact : Grace Bazin
    Address : 300 Longwood Avenue
    Boston, MA 02115-5724
    Phone : (617)-355-5230
    Fax : (617)-730-4669
    Email : Grace.Bazin@childrens.harvard.edu & RettResearch@childrens.harvard.edu

    Minnesota

    Gillette Children’s Specialty Healthcare

    Institution : Gillette Children’s Specialty Healthcare

    Principal Investigator : Arthur Beisang III, MD
    Email : ABeisang@gillettechildrens.com

    Co-Principal Investigator : Timothy Feyma, MD
    Email : TFeyma@gillettechildrens.com

    Contact : Rachel Katoch, CCRC, BS
    Address : 200 University Avenue East
    St Paul, MN 55101
    Phone : (651) 325-2331
    Fax : (651) 229-1767
    Email : rkatoch@gillettechildrens.com

    Missouri

    Washington University School of Medicine St. Louis Children’s Hospital

    Institution : Washington University School of Medicine and St. Louis Children’s Hospital

    Principal Investigator : Robin Ryther, MD, PhD
    Address : 660 South Euclid Avenue
    Campus Box 8111, MAT 817
    St. Louis, MO 63110-1093
    Email : rytherr@neuro.wustl.edu

    Contact : Olga Novak
    Address : 660 South Euclid Avenue
    Campus Box 8111, MAT 817
    St. Louis, MO 63110-1093
    Phone : (314) 454-4267
    Fax : (314) 747-6599
    Email : rettresearch@neuro.wustl.edu

    New York

    University of Rochester Golisano

    Institution : University of Rochester

    Principal Investigator : Alexander Paciorkowski, MD
    Contact : Emily Swint
    Address : 601 Elmwood Avenue, Box 645
    Rochester, NY 14642-0001
    Phone : (585)-275-0417
    Fax : (585)-275-3683
    Email : alex_paciorkowski@urmc.rochester.edu & emily_swint@urmc.Rochester.edu
    Sub-investigators : Laurie Seltzer, MD

    Ohio

    Children’s Hospital Of Philadelphia

    Institution : Cincinnati Children’s Hospital Medical Center

    Principal Investigator : Shannon Standridge, DO
    Address : 3333 Burnet Avenue
    Cincinnati, OH 45229
    Email : Shannon.standridge@cchmc.org

    Contact : Max Mays
    Address : 3333 Burnet Avenue
    Cincinnati, OH 45229
    Phone : 513-803-7935
    Email : Maxwell.mays@cchmc.org

    Cleveland Clinic

    Institution : Cleveland Clinic

    Principal Investigator : Sumit Parikh, M.D.
    Contact : Irys Caristo
    Address : 9500 Euclid Avenue
    Cleveland, OH 44195
    Phone : 216-444-0173
    Email : CARISTI@ccf.org

    Pennsylvania

    Children’s Hospital Of Philadelphia
    Institution : Children’s Hospital of Philadelphia
    www.chop.edu

    Principal Investigator : Eric Marsh, MD
    Address : 3615 Civic Center Blvd
    Philadelphia, PA, 19104
    Phone : (215)-590-1719
    Email : marshe@email.chop.edu

    Contact : Casey Gorman
    Address : 3615 Civic Center Blvd
    Philadelphia, PA, 19104
    Phone : (267)-426-5171
    Email : GormanC@email.chop.edu

    South Carolina

    Institution : Greenwood Genetic Center
    www.ggc.org

    Principal Investigator : Steven Skinner, MD
    Contact : Fran Annese
    Address : 101 Gregor Mendel Circle
    Greenwood, SC 29646
    Phone : (864)-941-8100
    Fax : (864)-941-8114
    Email : fran@ggc.org

    Tennessee

    Vanderbilt University

    Institution : Vanderbilt University

    Principal Investigator : Sarika Peters, PhD
    Contact : Sarika Peters, PhD
    Address : 405A One Magnolia Circle
    Nashville, TN 37212
    Phone : (615)-875-9311
    Fax : (615)-322-8236
    Email : sarika.u.peters@vanderbilt.edu
    Sub-investigators : Cary Fu, MD

    Texas

    Baylor College of Medicine

    Institution : Baylor College of Medicine

    Principal Investigator : Daniel Glaze, MD
    Contact : Judy O. Barrish BSN, RN
    Address : 6701 Fannin, Suite 1250
    Houston, TX 77030
    Phone : (832)-822-7388
    Fax : (832)-825-1717
    Email : dgglaze@texaschildrens.org & jobarris@texaschildrens.org
    Sub-investigators : Bernard Suter, MD, PhD & Thuy Dinh, PA