Genetics Eye Clinic
Lisa Schimmenti, M.D., Assistant Professor
Department of Pediatrics
Phone: (612) 624-5613
Fax: (612)626-2993
las@umn.edu
Dr. Lisa Schimmenti was born and raised outside of New York City in the town of West Islip. She received her undergraduate degree from Johns Hopkins University and a medical degree from Albert Einstein. She completed a pediatric residency at Harbor-UCLA Medical Center and a fellowship in Medical Genetics at the University of Minnesota. She held her first faculty appointment at UCLA in Pediatrics and Human Genetics and was an associate member of the Jules Stein Eye Institute. She returned to the University of Minnesota in the summer of 2002 and has a clinical interest in genetic disease and birth defects.
A major portion of her laboratory effort focuses on the genetics and developmental mechanisms behind birth defects that cause childhood blindness. One category of birth defects, called colobomas, result from abnormal ocular patterning during development and cause up to 10% of severe vision loss in children. Her laboratory studies the phenotypes associated with mutations in the gene PAX2 resulting in autosomal dominant renal coloboma syndrome. Vertebrate models are employed in order to identify the mechanisms altered by the presence of a genetic mutation in Pax2 and related genes. The laboratory seeks to identify other genes that cause ocular patterning defects in humans and in collaboration with researcher at NHGRI has recently identified mutations in SHH in a family with non-syndromic colobomas. Her laboratory searches for the genetic basis of birth defects syndromes characterized by the presence of colobomas, the most well known being CHARGE syndrome (C=coloboma;H=heart defects;A=atresia choanae;R=retardation of growth and development;G=genital anomalies;E=ear and hearing abnormalities).
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Figure A. Optic nerve coloboma in a patient with a mutation in PAX2. Normally the optic nerve (outlined by arrows) should be smaller with vessels emerging from the center rather than the periphery |
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Figure B. Iris coloboma in a child with a mutation in SHH. |
Publications
Phaikasame Sanyanusin, Lisa A. Schimmenti, Leslie McNoe, Theresa Ward, William B. Dobyns, Mary Ella Pierpont, Michael Sullivan, Michael R. Eccles. (1995) Mutation of the PAX2 Gene in a family with congenital optic nerve colobomas, and ureteral and renal anomalies. Nature Genetics 9:358-364.
Lisa A. Schimmenti, Mary Ella M. Pierpont, Becky L.M. Carpenter, Clifford E. Kashtan, Max R. Johnson, William B. Dobyns. (1995) Autosomal dominant optic nerve colobomas, renal anomalies and vesicoureteral reflux. American Journal of Medical Genetics 59:204-208.
Lisa A. Schimmenti, Heather E. Cunliffe, Leslie A. McNoe, Teresa A. Ward, Michelle M. French, Heather H. Shim, Yao-Hua Zhang, Willem Proesmans, Anita Leys, Kyna A. Byerly, Stephen R. Braddock, Mitsuno Masuno, Kiyoshi Imaizumi, Koen Devriendt, Michael R. Eccles (1997) Futher delineation of renal coloboma syndrome in patients with remarkable variability of phenotype and identical PAX2 mutations. American Journal of Human Genetics 60:869-878.
Micael R. Eccles and Lisa A. Schimmenti (1999) Renal-coloboma syndrome; a multisystem disorder caused by PAX2 mutations. Clinical Genetics 59:1-9.
Lisa A. Schimmenti , Heather H. Shim, Jonathan D. Wirtschafter, Valerie A. Panzarino,Clifford E. Kashtan, Susan J. Kirkpatrick, David S. Wargowski, Thomas D. France, Eduard Michel, William B. Dobyns (1999) Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of Renal-coloboma syndrome. Human Mutation 14:369-376.
Gary W. Chung, Albert O. Edwards, Lisa A. Schimmenti, Glenda S. Manligas, Yao-Hua Zhang, Robert Ritter (2001) Renal-Coloboma Syndrome: Report of a novel PAX2 gene mutation. American Journal of Ophthalmology 132:910-914.
LA Schimmenti, J dela Cruz , JD Karkera, , GS Manligas, E Roessler, M Muenke (2003) A novel mutation in Sonic Hedgehog in non-syndromic colobomatous microphthalmia. American Journal of Medical Genetics 116A:215–221.
Lisa A. Schimmenti, Glenda S. Manligas, Paul A. Sieving (2003) Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. Ophthalmic Genetics (in press).
