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

Contact

Jane Lane, BSN, RN

Phone

(800)-822-2472 ext#7

California

University of California

Contact

Karen Ditslear, MS

Phone

(858)-246-2288

UCSF Benioff Children’s Hospital of Oakland

Contact

Erica Robertson

Phone

(925)-979-4055

Colorado

School of Medicine Children’s Hospital Colorado

www.childrenscolorado.org

www.medschool.ucdenver.edu

Contact

Gina VanderVeen

Phone

(720)-777-5514

Illinois

Rush University

www.rush.edu

Contact

Susan Rohde

Phone

(312) 942-0079

Maryland

Rettsyndrome

Rettsyndrome.org

Rettsyndrome.org

Contact

Mary Joyce Griffin

Phone

(301)-961-1559

Massachusetts

Children’s Hospital of Boston

Contact

Grace Bazin

Phone

(617)-355-5230

Missouri

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

Contact

Olga Novak

Phone

(314) 454-4267

New York

University of Rochester Golisano

Contact

Laurie Seltzer, M.D.

Phone

(585)-275-0417

Ohio

Cincinnati Children’s Hospital Medical Center

https://www.cincinnatichildrens.org/

 

Contact

Max Mays

Phone

(513) 803-7935

Pennsylvania

Children’s Hospital Of Philadelphia

Contact

Casey Gorman

Phone

(267)-426-5171

South Carolina

Greenwood Genetic Center

www.ggc.org

Contact

Fran Annese

Phone

(864)-941-8100

Email

fran@ggc.org

Tennessee

Vanderbilt University

Contact

Sarika Peters, PhD

Phone

(615)-875-9311

Texas

Baylor College of Medicine

Contact

Judy O. Barrish BSN, RN

Phone

(832)-822-7388

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