2nd NIH Conference on Holoprosencephaly and Early Embryonic Development

Siobhan Dolan, MD


June 07, 2002

In This Article


Springtime in Washington, DC, was the setting for the 2nd NIH Conference on Holoprosencephaly (HPE) and Early Embryonic Development organized by the National Human Genome Research Institute with support from the NIH Office of Rare Disease Research & the Carter Centers for Brain Research in Holoprosencephaly and Related Malformations. The meeting was held in Bethesda, Maryland, on April 8th and 9th, 2002. The first day focused on basic science and the second day was devoted to clinical science and parent-clinician interactions.

Introductory remarks were made by Francis Collins, Director of the National Human Genome Research Institute of the National Institutes of Health (NIH). Dr. Collins stated that he was delighted to introduce the conference because he was happy to see the gathering of scientists, clinicians, and families working together in collaborative fashion to further knowledge about HPE. He paid tribute to the families who live daily with this disease and was happy to see them integrated into the conference because they make real and relevant the issues of living day to day with HPE.

Dr. Collins also commented on the future of the Human Genome Project. Next spring, April 25, 2003, will be the 50th anniversary of the publication of Watson and Crick's first paper on the structure of DNA.[1] In conjunction with this significant anniversary, Dr. Collins plans to announce that the Human Genome Project is finished. He also plans to state what he believes is the future of genetic medicine -- the long process of applying the information we have about the genome to benefit human health. Dr. Collins congratulated the conference and cited it as an excellent example of translating research about the genetic basis of disease into direct medical applications.

Dr. Maximillian Muenke, Senior Investigator and Chief of the Medical Genetics Branch of the National Human Genome Research Institute at the NIH, welcomed the participants to Bethesda. He was the master of ceremonies, and announced that the 3rd NIH Conference on Holoprosencephaly and Early Embryonic Development will be held in 2 years on April 19-20, 2004. Proceedings from this year's conference are posted at: https://www.nhgri.nih.gov/conf/hpe02/about.html.


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