|What's New ?
is underway for the first PND Family Conference in May 2004.
Each year the PND Association attends national professional conferences to increase awareness among families and the medical community. The following are conferences we exhibited at and are planning to attend in the future. We are always in need of volunteers to help with exhibiting at these conferences. If you are interested in helping, please email us at [email protected]
Child Neurology Society Annual Meeting - Washington DC
PND Exhibiting Thursday October 10th - Friday October 11th
Thursday October 10th 1:30-3:00 Symposium II : Pediatric Neurotransmitter Diseases Moderator Keith Hyland PhD, Baylor University
ASHG Annual Conference - more to come
- 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
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
- Rapid Mutation Detection in
the Genes Involved in Serotonin and Catecholamine Neurotransmission
The Department of Neurochemistry within the Kimberly H. Courtwright and Joseph W. Summers
Institute of Metabolic Disease in Dallas has been dedicated to the research and diagnosis
of inherited disorders that affect brain function. In particular, research has
focused on the area of catecholamine and serotonin neurotransmitter metabolism.
Early detection of the defects of neurotransmitter metabolism is of critical importance as
many therapeutic drugs are already available that can either reverse or greatly improve
neurologic function once the exact site of the problem is located.
Within the department, analytical techniques have been developed that allow investigation
of the steps required for synthesis, metabolism and action of these neurotransmitters.
Confirmation, however, in most cases requires examination of candidate genes and
detection of disease causing mutations. We currently have to individually sequence
all the coding exons and intron/exon boundaries of these genes using manual direct genomic
DNA sequencing. This is time-consuming, labor intensive and extremely costly.
We therefore propose to establish rapid screening methods to pre-screen the candidate
genes. We propose to purchase the Bio-Rad DCode System. The Dcode universal
mutation system is a vertical electrophoretic apparatus that can be used for rapid
screening of DNA. This equipment will greatly facilitate mutation detection in
patients in whom neurotransmitter metabolite analysis suggests a molecular defect and
promote earlier detection.
This work is under the supervision of Dr. Keith Hyland, Director of Neurochemistry
Laboratory, Kimberly H. Courtwright and Joseph W. Summers Institute of Metabolic Disease.
The cost of this equipment is $10,000.
To help fund this important testing equipment, please make out your contribution to The
Institute of Metabolic Disease and mail with a cover letter to:
The Institute of Metabolic Disease
Attn. Dr. Keith Hyland
3812 Elm Street
Dallas, Texas 75226
Visit to the Waisman Center
Aside from participating in this years "Chip for Charity" golf outing K. Michael Gibson PhD was a guest lecturer on SSADH at the Waisman Center in Madison on September 14, 2002. The Waisman Center is one of the world's leading centers of research on developmental disabilities and neurodegenerative diseases. The center was established in 1963 as the Joseph P. Kennedy, Jr. Laboratory and completed and renamed in 1973 after the late Harry A. Waisman, a pediatrician, biochemist and pioneer in mental retardation. An expansion of the center in 2001 added substantial new space for state of the art laboratories, services and training.
In addition to the invitation to guest lecture, PND Board members, John & Nancy Speller, Brad & Carolyn Hoffman and Medical and Scientific Advisory Board members Cathy Ascher RN MSN and Keith Hyland PhD were treated to a tour of the Waisman Center by Clive Svendson PhD (lecture first symposium on PND's " Genetic Modification of Human Neuronal Stem Cells; Implication for Brain Repair). Dr Svendson provided a wonderful tour of the updated facilities and shared with us some of the most recent research taking place at the Waisman Center. For more information about the Waisman Center visit www.waisman.wisc.edu
The PND Association is a non-profit, voluntary organization. We are always in need of volunteers and new fundraising opportunities. If you are interested in lending your support please email [email protected]
- Chip For Charity Golf Outing
- Bowl a thon
- Lund Fire Products Dinner Fundraiser
- A special thank you goes out to Darlene and Kyler Drew (parents of Ryan, a child with TH) and Ryan's grandparents Jeanne and Gary Davis. In addition to the monies raised for the golf outing they raised an additional $9,500 by sending out a letter to their family and friends explaining Ryan's disease and the need for funding. The result was an ongoing influx of personal donations to the PND Association. Kudos to Darlene, Kyler, Jeanne and Gary.
If you would like a copy of this letter please email Darlene
NIH Grant 02 - First Symposium on PND's
The PND Association began mailing its quarterly newsletter in April, 2001. If you would like to receive a copy of the most recent newsletter please contact the Association.
The PND Association is a non profit 501c3 voluntary organization. We are always in need of volunteers and new fundraising opportunities. If you are interested in lending your support please email [email protected]. All contributions are tax deductible.
Volunteer Needed to Develop SSADH
Laboratory Testing List
The PND Association has received many requests from families and professionals for a list of laboratories in the United States that provide testing for SSADH and or include the test in there urine organic acid work up. We would like to develop and make available such a list and are looking for a volunteer to assist with this project. If you are interested in helping out please contact the PND Association at [email protected]