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Val Sheffield, MD, PhD

Professor

Introduction

My laboratory is interested in identifying and understanding the function of genes which cause a variety of human disorders. Our research efforts have focused on the molecular genetics of monogenic disorders, as well as polygenic and multifactorial disorders. Our research efforts have resulted in the mapping of many different disease loci. In addition, we have used positional cloning methods to identify genes involved in a number of different diseases including hereditary blindness and deafness. Efforts are currently underway to use positional cloning strategies to identify additional disease-causing genes. Complex genetic disorders currently under investigation in the laboratory include hypertension, obesity, congenital heart disease and autism. In addition, we have worked on developing and improving techniques for disease mapping, positional cloning, and mutation detection. We have also had an active role in the human genome project and the rat genome project.

Current Positions

  • Professor of Pediatrics; and Ophthalmology and Visual Sciences
  • Roy J. Carver Chair in Molecular Genetics, Carver College of Medicine
  • Director, Interdepartmental Research Program in Human Molecular Genetics

Education

  • BS in Zoology, Brigham Young University, Provo, Utah, United States
  • MS in Developmental Biology, Brigham Young University, Provo, Utah, United States
  • PhD in Developmental Biology, University of Chicago, Chicago, Illinois, United States
  • MD in Medicine, with Honors, University of Chicago, Chicago, Illinois, United States
  • Resident in Pediatrics, University of California, San Francisco, San Francisco, California, United States
  • Fellow in Medical Genetics, University of California, San Francisco, San Francisco, California, United States

Graduate Program Affiliations

Center, Program and Institute Affiliations

Research Interests

  • Treatment of human genetic diseases using iPS cells and genome editing
  • Molecular genetics of hypertension and obesity
  • Molecular biology of syndromic retinitis pigmentosa
  • Molecular biology of hereditary macular degeneration
  • Molecular genetics of glaucoma
  • Molecular biology of hydrocephalus

Licenses & Certifications

  • Board certified in Clinical Medical Genetics
  • Diplomate of the National Board of Medical Examiners
  • Permanent Iowa license to practice medicine and surgery
  • Board certified in Clinical Molecular Genetics

Selected Publications

  • Guo DF, Merrill RA, Qian L, Hsu Y, Zhang Q, Lin Z, Thedens DR, Usachev YM, Grumbach I, Sheffield VC, Strack S, Rahmouni K.Corrigendum to "The BBSome regulates mitochondria dynamics and function molecular metabolism" [Mol Metabol 67 (2023) 101654].Mol Metab. 2024 Dec;90:102038. doi: 10.1016/j.molmet.2024.102038. Epub 2024 Sep 25. PMID: 39341604
  • Patil SV, Kaipa BR, Ranshing S, Sundaresan Y, Millar JC, Nagarajan B, Kiehlbauch C, Zhang Q, Jain A, Searby CC, Scheetz TE, Clark AF, Sheffield VC, Zode GS. Lentiviral mediated delivery of CRISPR/Cas9 reduces intraocular pressure in a mouse model of myocilin glaucoma.Res Sq [Preprint]. 2023 Dec 19:rs.3.rs-3740880. doi: 10.21203/rs.3.rs-3740880/v1.Update in: Sci Rep. 2024 Mar 23;14(1):6958. doi: 10.1038/s41598-024-57286-6.PMID: 3819657
  • Guo DF, Williams PA, Laule C, Seaby C, Zhang Q, Sheffield VC, Rahmouni K. POMC Neuron BBSome Regulation of Body Weight is Independent of its Ciliary Function.Function (Oxf). 2023 Dec 23;5(1):zqad070. doi: 10.1093/function/zqad070. eCollection 2024. PMID: 38223458
  • Guo DF, Merrill RA, Qian L, Hsu Y, Zhang Q, Lin Z, Thedens DR, Usachev YM, Grumbach I, Sheffield VC, Strack S, Rahmouni K. The BBSome regulates mitochondria dynamics and function.Mol Metab. 2023 Jan;67:101654. doi: 10.1016/j.molmet.2022.101654. Epub 2022 Dec 10. PMID: 36513220
  • Patil SV, Kaipa BR, Ranshing S, Sundaresan Y, Millar JC, Nagarajan B, Kiehlbauch C, Zhang Q, Jain A, Searby CC, Scheetz TE, Clark AF, Sheffield VC, Zode GS.Sci. Lentiviral mediated delivery of CRISPR/Cas9 reduces intraocular pressure in a mouse model of myocilin glaucoma. Rep. 2024 Mar 23;14(1):6958. doi: 10.1038/s41598-024-57286-6. PMID: 38521856
  • Hsu Y, Bhattarai S, Thompson JM, Mahoney A, Thomas J, Mayer SK, Datta P, Garrison J, Searby CC, Vandenberghe LH, Seo S, Sheffield VC, and Drack AV. Subretinal gene therapy delays vision loss in a Bardet-Biedl Syndrome type 10 mouse model. Mol Ther Nucleic Acids. 2022 Dec 12;31:164-181. Doi:10.1016/j. omtn.2022.12.007
  • Guo DF, Merrill RA, Qian L, Thedens DR, Usachev YM, Grumbach I, Sheffield VC, Strack S and Rahmouni R. The BBSome regulates mitochondrial dynamics and function. Mol Metab. 2023 Jan; 67:101654. Doi:10.1016/j.molmet.2022.101654
  • Stubbs T, Koemeter-Cox A, Bingman JI, Zhao F, Kalyanasundaram A, Rowland LA, Periasamy M, Carter CS, Sheffield VC, Askwith CC and Mykytyn K. Disruption of dopamine receptor 1 localization to primary cilia impairs signalin in striatal neurons. J Neurosci. 2022 Jul 25;42(35):6692-705. doi: 10.1523/JNEUROSCI.0497-22.2022
  • Cring MR and Sheffield VC. Gene therapy and gene correction: targets, progress, and challenges for treating human diseases. Gene Ther. 2022 Feb;29(1-2):3-12. Doi: 10.1038/s41434-020-00197-8
  • McDowell CM, Kizhatil K, Elliott MH, Overby DR, van Batenburg-Sherwood J, Millar JC, Kuehn MH, Zode G, Acott TS, Anderson MG, Bhattacharya SK, Bertrand JA, Borras T, Bovenkamp DE, Cheng L, Danias J, De Ieso ML, Du Y, Faralli JA, Fuchshofer R, Ganapathy PS, Gong H, Herberg S, Hernandez H, Humphries P, John SWM, Kaufman PL, Keller KE, Kelley MJ, Kelly RA, Krizaj D, Kumar A, Leonard BC, Lieberman RL, Liton P, Liu Y, Liu KC, Lopez NN, Mao W, Mavlyutov T, McDonnell F, McLellan GJ, Mzyk P, Nartey A, Pasquale LR, Patel GC, Pattabiraman PP, Peters DM, Raghunathan V, Rao PV, Rayana N, Raychaudhuri U, Reina-Torres E, Ren R, Rhee D, Chowdhury UR, Samples JR, Samples EG, Sharif N, Schuman JS, Sheffield VC, Stevenson CH, Soundararajan A, Subramanian P, Sugali CK, Sun Y, Toris CB, Torrejon KY, Vahabikashi A, Vranka JA, Wang T, Willoughby CE, Xin C, Yun H, Zhang HF, Fautsch MP, Tamm ER, Clark AF, Ethier CR, Stamer WD. Consensus recommendation for mouse models of ocular hypertension to study aqueous humor outflow and its mechanisms. Invest Ophthalmol Vis Sci. 2022 Feb 1; 63(2):12. Doi:10.1167/iovs.63.2.12