HomeResearchIntramural ResearchResearch Branches at NHGRIMedical Genetics Branch Roessler Lab

Erich Roessler, M.D., Ph.D. Associate Investigator Medical Genetics Branch M.D. Baylor College of Medicine, 1986 Ph.D. Baylor College of Medicine, 1984 (301) 402-5600 (301) 435-3495 eroessle@nhgri.nih.gov Building 35, Room 1B403 35 Convent Dr, MSC 3717 Bethesda, MD 20892-3717 Selected Publications The First NIH Conference on Holoprosencephaly The Second NIH Conference on Holoprosencephaly The Third NIH Conference on Holoprosencephaly

Dr. Roessler focuses on identifying human genetic mutations that contribute to birth defects and demonstrating how these mutations cause their pathophysiology. His work is performed within the Human Development Section, which is led by Dr. Maximilian Muenke, and involves detailed functional analyses of suspect genes and collaborations with scientists using model organisms to study equivalent genetic mutations. To understand more about birth defects, Dr. Roessler also investigates the basic mechanisms involved in body plan development, since these processes are directly affected by the alterations associated with birth defects.

Dr. Roessler studies focus primarily on early embryonic development of the axial midline and forebrain and establishment of the left-right axis (laterality). These developmental steps occur in the first month of a human fetus's life and are critical for proper human development. He has worked for many years with Dr. Muenke studying holoprosencephaly (HPE), a laterality defect that occurs when the embryonic forebrain does not divide properly into the two lobes of the cerebral hemispheres.

HPE is the most common human structural birth defect affecting the brain. It occurs in one in every 250 conceptions and is associated with frequent fetal loss; only one case in 10,000 continues to birth. At birth, HPE can manifest itself in small head size, developmental delays, and facial deformities that range from cleft lip or closely set eyes to the much more severe condition, cyclopia (a single eye at the root of the nose); cyclopia results when forebrain cleavage never occurs. Working with Dr. Muenke and others, Dr. Roessler identified the first gene behind HPE in humans, called Sonic Hedgehog.

Researchers studying HPE are now turning their focus from gene identification- an effort that has identified as many as 12 candidate loci-to understanding environmental factors that might contribute to HPE. This will require a better understanding of patterns of gene expression at key points during fetal development. Once contributing factors have been identified, they can be subjected to further, targeted study. In one example of the environment's potential role in HPE, Dr. Roessler plans to study the effects of low maternal cholesterol levels on embryonic development. In particular, he hopes to understand the influence of the cholesterol-lowering statin drugs on fetal development in women who become pregnant while taking these drugs.

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Last Reviewed: September 9, 2008