Projects 2005-2006
fMRI Studies of Food Motivation in Prader-Willi Syndrome
Principal Investigator: Savage C and Butler M
Project Summary:
Little is known regarding brain mechanisms contributing to hyperphagia and obesity in Prader-Willi Syndrome (PWS). Neuroimaging studies of food motivation in healthy individuals have implicated limbic and paralimbic areas of the brain in the development of obesity. We have completed an initial functional magnetic resonance imaging (fMRI) study of food motivation in PWS that has demonstrated hyperactivation in these brain networks after eating a meal. However, PWS is a varied genetic syndrome that can be parsed into four genotypes and we have so far only studied PWS as a group. The current application aims to extend our preliminary work with an additional 15 PWS participants in order to have an adequate sample to study the three most common PWS genotypes: Uniparental Disomy, Deletion Type I, Deletion Type II. Results of this study should provide important information concerning differences between subtypes of PWS, and ultimately important clues regarding genetic contributions to hyperphagia and obesity.
This study will be presented and discussed at the 28th Annual Prader Willi Syndrome Syndrome Association (USA) Scientific Conference. The Scientific Conference is a one day proceeding held Wed., July 19th, 2006 prior to the General Conference held Thurs. and Fri. July 20-21, 2006. For further information on research on Prader WIlli Syndrome, see the newly published third edition of Prader WIlli Syndrome Management, edited by Merlin G. Butler, MD, PhD, Phillip D.K. Lee, MD and Barbara Y. Whitman, PhD. In addtion, Genetics of Developmental Disabilities, edited by Merlin Butler and F. John Meaney, and recently published, describes advances and emerging research pathways in PWS, as well as clinical descriptions and examples, patient scenarios, current research findings, and references for further study.
Project links and documents:
Related Links:
Prader-Willi Syndrome Assoc. Conference
Recently Published:
Prader Willi Syndrome Management 3rd Edition
Genetics of Developmental Disabilities (edited by Merlin Butler and F. John Meaney)
Can Telehealth Replace Genetics Outreach Clinics In Rural Missouri?
Principal Investigator: Miles JH and Butler B
Project Summary:
The University of Missouri has provided genetics services in rural southern Missouri through a network of Outreach Clinics since 1981. The erosion of state funding has led to the cancellation of clinics in Mountain View, Poplar Bluff and Rolla Missouri. We have been able to maintain only one southern clinic in Springfield with underwriting by a local hospital. This grant will establish a network of Telehealth genetics clinics in southern Missouri, utilizing the University of Missouri’s well established Telehealth Program and cooperating sites in southern Missouri. We will compare the efficacy of telemedicine genetics services to the traditional face-to-face evaluations provided either in the Outreach location or at the University Hospital. Areas of analysis will include satisfaction with Telehealth for genetic diagnosis, follow-up and counseling for patients/families, genetic service providers and referring physicians. An array of patient, provider and service variables, including costs and reimbursement wil be analyzed to determine which variables most strongly impact the satisfaction with Telehealth genetics. The results of the project will be a description of the strengths and weaknesses of Telehealth to increase access to genetics services in rural areas, and the development of a genetics Telehealth delivery model. We will partner with geneticists and the Telemedicine program at the University of Arkansas for Medical Sciences (UAMS), who will first act as consultants and then as partners in the planning for a joint southern Missouri/Northern Arkansas Telehealth Genetics Network.
Online Genetic & Metabolic Education Modules
Principal Investigator: Copeland S, Grange K, and Piper K
Project Summary:
The objectives of this proposal are to utilize existing resources and facilities to develop and disseminate online patient education materials that cover metabolic and genetic disorders, particularly newborn screening disorders, and which have the following criteria:
- Accurate and up-to-date information,
- Accessible to patients with low readability skills or disabilities, and
- Available over the Internet and can be easily updated from a centralized location.
Use the link below to view the education modules developed by this project:
Family History Day 2005 in Greater Kansas City
Principal Investigator: Collins D
Project Summary:
This proposal is to develop educational Public Service Announcement(s) to submit to media sources in greater Kansas City (newspapers, television, radio) to promote the 2nd annual U.S. Surgeon General’s Family History Initiative for Thanksgiving, 2005. The announcements will include families who present information about the important of a family history, and the public will be directed to a web site with information on the free pedigree tool, My Family Health Portrait. On the US Surgeon General’s web site (and user friendly tips/help in using it), as well as clinical services by ABMG/ABGC certified/eligible genetic counselors in Greater Kansas City. This project builds on the success of other efforts in 2004 and initiatives in other Heartland states such as Oklahoma.
Use the link below to view the Public Service Announcements developed by this project:
Development and Implementation of State Genetics Plans: Technical Assistance
Principal Investigator: Butterfield L and Riske M
Project Summary:
This proposal addresses the priority need for infrastructure building through development and implementation of state newborn screening and genetics plans that are based on a regional collaborative model. The project will bring together stakeholders from Heartland states without functional state plans (Kansas, North Dakota and South Dakota). The collaboration of stakeholders will include Public Health Department personnel, clinical genetic providers, primary health care providers and consumers. Participants will gain the technical expertise and skills to develop effective state plans and through regional collaboration establish the partnerships necessary to implement the plans.
Poster of State Genetics Plans Project
Adherence to National Clinical Guidelines for Down Syndrome
Principal Investigator: Ferguson M, Mulvihill J, and Schaefer B
Project Summary:
Down syndrome is one of the most common chromosomal disorders and the most common cause of mental retardation. It is well known that children with Down syndrome are at a significantly increased risk of developing hypothyroidism. Because the signs and symptoms of hypothyroidism overlap with the signs and symptoms occurring naturally in children with Down syndrome, hypothyroidism can be very difficult to detect clinically. In 1994, the AAP Committee on Genetics published the policy statement (entitled Health Supervision for Children with Down Syndrome) which recommends screening for hypothyroidism at age 6 months, age 12 months and annually thereafter. The proposed research will seek to identify children with Down syndrome in Oklahoma under the age of 10 and retrospectively review their medical records to assess whether they have had screening for hypothyroidism as recommended by the AAP guidelines.
Poster for Down Syndrome Guidelines Project