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The goals of the conferences are to bring parents, researchers, and professionals involved with the care of persons with HPE together to exchange information, ideas, scientific data, and to share the family experience. A limited number of families will be chosen to undergo evaluations at the NIH. Families will be given the opportunity to schedule evaluations at any of the three Carter Centers for Brain Research in Holoprosencephaly and Related Malformations for additional evaluations and continuing care.
For more information about the National Institutes of Health, you may
click on the web site below:
www.nih.gov
Educational Objectives
- Outline the recent scientific advances in the understanding of HPE by inviting basic scientists who specialize in the study of developmental genes in model organisms such as the zebrafish, frog and mouse that might provide new directions in the search for disease causing genes in humans.
- Summarize the studies of teratogens that are associated with HPE in animal models and their implications for causing HPE in humans.
- Explore the possibility that developmental pathways that participate in the determination of midline development (such as HPE) also control the position of internal body organs (e.g. human laterality defects).
- Discuss the radiological findings in HPE and determine corelations between brain anomalies and clinical severity.
- Discuss the clinical database of HPE patients and assess risk factors for the disease.
- Compare the experience of medical professionals in the optimum management of patients with HPE.
- Provide a forum for families with a child with HPE to interact and strengthen coping skills, share experiences, and discuss effective treatment modalities among themselves and with the medical professionals that care for them.
- Provide detailed medical evaluations to a limited group of HPE patients that might not otherwise be able to afford comprehensive genetic, neurologic evaluations by highly specialized experts in the field.
- Provide training to genetic fellows and counselors in the diagnosis and management of HPE.
- Foster a greater appreciation among basic scientists and clinicians of the impact of severe brain anomalies such as HPE.