Eva Sujansky, M.D
Clinical Genetics
My clinical research interest is directed toward the delineation of the phenotypes and the natural history of various genetic disorders.
We have defined the phenotype, the natural history, and the recurrence risk of the Recombinant (8) Syndrome, a duplication 8q/deletion 8p abnormality, resulting from parental pericentric inversion. All pericentric inversion carriers are Spanish-Americans, originating from the San Luis Valley (Northern New Mexico-Southern Colorado) indicating a founder effect. The syndrome is associated with mental retardation, congenital heart disease and other malformations. Our data provide very important information for health care providers, and parents regarding effectiveness of treatment. Now we are collaborating on a molecular analysis of inversion junction and development of a FISH probe for detection of carriers of the periceutric inversion.
Another focus of clinical research is in Neurocutaneous disorders, specific Neurofibromatosis (NF) and Sturge-Weber Syndrome (SWS). We have generated data about the effect of pregnancies in women with NF and their offspring. We have also analyzed the natural history of plexiform Neurofibromas in NF patients, including the outcome of conservative and surgical treatments. Both of these studies have a direct impact on patient management.
We have completed a study of the natural history of SWS in children and adults including the identification of the ranges of age at the onset of various symptoms, and of the predictive factors for mental retardation.
Publications
Dugoff, L., Sujansky, E.: Neurofibromatosis Type 1 and Pregnancy. Am J of Med Genet 1996, 66:7-10Sujansky, E., Conradi, S.: Sturge-Weber Syndrome: Age of Onset of Seizures, Glaucoma and the Prognosis of Affected Children. J Child Neurol, 1995, 10: 49-58
Sujansky, E., Conradi, S.: Outcome of Sturge-Weber Syndrome in 52 Adults. Am J Med Genet, 1995, 57: 35-45
