National Institutes of Health (NIH)
Our interests at the Medical Genetics Branch, the National Human Genome Research Institute (NHGRI) within the National Institutes of Health (NIH) focus on trying to better understand the genetic causes of holoprosencephaly (HPE). Dr. Maximilian Muenke began studying patients with HPE in 1986 and currently heads this laboratory which is devoted to investigating HPE. Our center aims to identify and study genes that cause holoprosencephaly, but we also work closely with the additional Carter Centers across the country to provide research support and genetic evaluations. To date, four genes have been identified that cause HPE in some families: Sonic Hedgehog, ZIC2, SIX3 and TGIF. At the present time, we find changes in these genes in only 10-20% of patients with HPE. Thus, more progress will be needed to understand the causes of HPE in the remaining families. We are currently screening several additional candidate genes that may be involved in HPE. Our research relies solely on the cooperation of families and their doctors. With their help we will continue to make progress in understanding the gene(s) responsible for holoprosencephaly.
Maximilian Muenke, MD, Medical Director
Chief, Medical Genetics Branch at the National Human Genome Institute
Dr. Muenke graduated from Free University of Berlin School of Medicine. After residency training in pediatrics and a research fellowship in the Department of Human Genetics at Yale University, he completed a fellowship in Clinical Genetics at the Children’s Hospital of Philadelphia. It was during this training that Dr. Muenke first worked with children with holoprosencephaly and their parents. He made HPE the focus of his research, when he joined the faculty at Children’s Hospital of Philadelphia and now as Chief of the Medical Genetics Branch at the National Human Genome Research Institute of the National Institutes of Health in Bethesda, Maryland.
Paul Kruszka, MD
Bio information coming soon.