Research

	Research
	SSADH Study National Institute of Health Grant Application Knockout Mouse Model
	SSADH Study
	K. Michael Gibson PhD and Phillip L. Pearl MD SSADH study to define biomarkers for gauging intervention in future, more comprehensive clinical trials. For more information or if you are interested in participating in the study please email them at [email protected] or [email protected]
	National Institute of Health Grant Application
	MSA Committee submits NIH RFA RR-03-008 Principal Investigator- K. Michael Gibson PhD BACKGROUND In November 2002, the Rare Disease Act of 2002 directed the Office of Rare Diseases (ORD), National Institute of Health (NIH) to support regional centers of excellence for clinical research into, training in, and demonstration of diagnostic, prevention, control, and treatment methods for rare diseases. This law provides the legislated mandate for RFA RR-03-008 to address the needs of rare disease clinical research. On February 27 2003, several combined institutes of the NIH including ORD released a Request For Application (RFA) for a 7 .0 million dollar grant that will fund 4 Rare Disease Clinical Research Centers (RDCRC) dedicated to research on 4 different rare disease groups and 1 Data and Technology Coordinating Center (DTCC). For detailed information on this grant and project please visit www.grants1.nih.gov/grants.guide/rfa-files/RFA-RR-03-008 or www.rarediseases.info.nih.gov The concept of the RDCRC's is to develop a systematic approach for research in rare diseases. Giovanna Spinella MD, Director of Extramural Research at the Office of Rare Diseases explained during a recent teleconference; "A longitudinal study of the diseases must be included in the proposal because one of the main goals is to include a systematic approach so that if therapy X becomes available today there is a sense of what measures and outcomes should be reviewed. Rather than wait for a potential therapy to come down the road the concept is that we will already have this information. " This is a groundbreaking opportunity for rare diseases and our children. The PND Association has been working with members of our MSA and is assisting with the completion of this proposal. Clinical protocols are being designed to consider the specific needs of our children and families. Depending on the particular disease children and families will visit the respective institution and participate in the studies. RESEARCH ON PND'S The RDCRC working on behalf of PND's will consist of a consortium of clinical investigators, institutions and relevant organizations focused on the following diseases; SSADH, TH Deficiency, AADC, GTPH Deficiency and other BH4 defects without hyperphenylalanemia. The proposal for the RDCRC will include; · Longitudinal and clinical studies. · A plan for the training of new clinical investigators for PND's · Resources to be included in a website for education and research. · Databank containing secured, private information to be utilized for future studies and available treatment of the diseases. The key personnel and participating institutions are identified below. K. Michael Gibson, PhD, FACMG Principal Investigator Professor of Molecular and Medical Genetics and Pediatrics Director, Biochemical Genetics Laboratory Oregon Health Sciences University Portland, Oregon 97201 Keith Hyland PhD Director of Neurochemistry Laboratory Baylor University Medical Center 3812 Elm Street Dallas, TX 75226 Kathryn J. Swoboda, MD Pediatric Neurology and Genetics Primary Children's Medical Center 100 North Medical Drive Salt Lake City, UT 84132 Darryl C. DeVivo, MD Professor of Pediatrics and Neurology Columbia University School of Medicine New York, New York Edward J. Novotny, Jr. MD Associate Professor of Pediatrics and Neurology Director, Pediatric Epilepsy Program Yale University 3333 Cedar Street New Haven, Conn 06510 Phillip L. Pearl, MD Associate Professor of Pediatrics and Neurology Children's National Medical Center George Washington University School of Medicine 111 Michigan Avenue, NW Washington, DC 20010-2970 Investigators outside the USA are: Georg F. Hoffmann MD Professor University of Heidelberg Im Neuenheimer Feld 153 Heidelberg, Germany 69120 Masay Segawa MD, PhD Segawa Neurological Clinic for Children's Hospital 203 Surugadai Kanda Chiyoda-ku Chiyoda-Ku, Tokyo 101 Tokyo 101-0062 Japan Cornelis Jakobs, PhD Departments of Pediatrics and Clinical Chemistry VU University Medical Center Amsterdam, The Netherlands
	Knockout Mouse Model
	The use of transgenic mice has begun to revolutionize the study of human inborn errors of metabolism. Disruption of specific genes in mice enables a researcher to study the "human" counterpart disease in a model system (mouse) which produces rapidly. This approach has recently been applied to SSADH deficiency. In November of 1999, the first mice with genetically altered SSADH were born. These animals have a short life span, and manifest behavioral and gait abnormalities as seen in the human disease. In addition, seizures are a common finding, and may ultimately be the cause of death. These new knockout mice are the subject of intense investigation, and new therapeutic approaches are being attempted in them. The development of useful therapeutics will ultimately have important benefits to those with the human disease. This work is under the supervision of Dr. K. Michael Gibson, Associate Professor, Department of Molecular and Medical Genetics, Oregon Health Sciences University. Recently, Dr. Gibson was awarded a research grant through NIH to help support this important work. To help fund this important research, please mail your contributions to: GHB Research Fund c/o Finance Manager Oregon Health Sciences University Department of Molecular and Medical Genetics Mail Code L-103 3181 S.W. Sam Jackson Park Road Portland, Oregon 97201-3098