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Suma Shankar

Mentor: Edwin Stone, M.D./Ph.D.
Lab Phone: 353-5507

Study of Molecular Genetics of Inherited Eye Diseases.

Our laboratory is interested in studying the molecular genetics of inherited eye diseases. My project focuses on Linkage Analysis of families with Leber Hereditary Optic Neuropathy (LHON) and Retinitis Pigmentosa.

Candidate gene screening for disease causing mutations of nuclear encoded mitochondrial genes in LHON and retinitis pigmentosa. Evaluation of MnSODAla16Val polymorphism in LHON probands. Phenotypic characterization of known mutations in RDS and RP1 genes. Working with bio-informatics department : Developed algorithm for choosing the most conserved region of candidate genes to be screened for disease causing mutations. Development of web based programs for 1. Estimation of linkage power of pedigrees. 2. LOD Score calculations using FASTLINK, Genehunter programs.


Shankar S.P., Kozma P, Birch, DG, Hughbanks-Wheaton D, Locke KG, Ruiz RS, Sullivan LS, Bowne SJ, Stone EM, Daiger SP. Analysis of protein haplotypes in trans as factors modifying phenotypic variation of retinal dystrophies caused by a splice site mutation in the peripherin/RDS gene. ARVO, 3719/B180, April 2004.

Carelli V, Wang K, Valentino ML, Shankar SP, Salomao SS, Belford R, Sadun AA, and Stone EM. Segregation analysis of a large LHON pedigree is consistent with the existence of a nuclear modifying gene. ARVO, May 2003.

Shankar SP, Taylor C, Carelli V, Wang K, Braun T, Stone EM. Linkage analysis of the X-chromosome in LHON, Medical Research Week, UIOWA, April, 2003.

Shankar SP, Braun T, Casavant T, Sheffield V, Stone EM. The Best CAR approach in the screening of disease causing genes. Poster for Jacobson Graduate Forum, 2003, Molecular Biology Retreat, Sept, 2002.

Finger JH, Affatigato L, Secrist J, Shankar SP, Sheffield V, Stone EM. Identification of a novel OPA1 mutation in a large family with severe autosomal dominant optic atrophy like phenotype. ARVO, May 2002.

Fullenkamp C, Miller JS, Shankar S, Lutz CT. Few CD56 (bright) NK cells express cell surface KIR. FASEB JOURNAL. 16 (4): Part 1 MAR 20 2002. A322-A322.


Shankar SP, Fingert JH, Carelli V, Valentino ML, King TM, Daiger SP, Salomao SR, Berezovsky A, Belfort R Jr, Braun TA, Sheffield VC, Sadun AA, Stone EM. Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. Ophthalmic Genet. 2008 Mar;29(1):17-24. PubMed PMID: 18363168.

Fingert JH, Honkanen RA, Shankar SP, Affatigato LM, Ehlinger MA, Moore MD, Jampol LM, Sheffield VC, Stone EM, Alward WL. Familial cavitary optic disk anomalies: identification of a novel genetic locus. Am J Ophthalmol. 2007 May;143(5):795-800. Epub 2007 Mar 19. PubMed PMID: 17368552.

Fingert JH, Alward WL, Kwon YH, Shankar SP, Andorf JL, Mackey DA, Sheffield VC, Stone EM. No association between variations in the WDR36 gene and primary open-angle glaucoma. Arch Ophthalmol. 2007 Mar;125(3):434-6. PubMed PMID:17353431.

Daiger SP, Shankar SP, Schindler AB, Sullivan LS, Bowne SJ, King TM, Daw EW, Stone EM, Heckenlively JR. Genetic factors modifying clinical expression of autosomal dominant RP. Adv Exp Med Biol. 2006;572:3-8. Review. PubMed PMID:17249547; PubMed Central PMCID: PMC2581449.

Braun TA, Shankar SP, Davis S, O'Leary B, Scheetz TE, Clark AF, Sheffield VC, Casavant TL, Stone EM. Prioritizing regions of candidate genes for efficient mutation screening. Hum Mutat. 2006 Feb;27(2):195-200. PubMed PMID: 16395665.

Honors and Awards

  • National Merit Scholar. Best poster award - Molecular Biology Retreat, 2002
  • The Royal College of Ophthalmologists, UK; Common Wealth Association for prevention of Mental and V
  • Clinical teaching of interns, medical, nursing and orthoptic students, 1996-98 as staff ophthalmolog
  • Iowa annual ophthalmology meet - 06/03 Jacobson Graduate Forum - 03/03 Molecular Biology Retreat -