‘Cilia in Development and Disease’

CILIA 2012 Conference :: London, 16-18 May, 2012


Invited Speakers

Kathryn Anderson (Sloan-Kettering Institute, New York, USA)

Genetic control of mouse embryonic patterning and morphogenesis.

Key references:

Ocbina, P. J. R, Eggenschwiler, J. T., Moskowitz, I. and Anderson, K. V. (2011) Complex Interactions Between Genes Controlling Trafficking in Primary Cilia. Nature Genetics 43: 547-553.

Goetz, S. C. and Anderson, K. V. (2010). The primary cilium: a signalling centre during vertebrate development. Nat Rev Genet.11: 331-344.

Liem, K. F. Jr, He, M., Ocbina, P. J. and Anderson, K. V. (2009) Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling. Proc Natl Acad Sci USA. 106: 13377-13382.

Rachel Giles (University Medical Center Utrecht, Netherlands)

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Joe Gleeson (University of California, San Diego School of Medicine La Jolla, California, USA)

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Friedhelm Hildebrandt (University of Michigan, USA)

Dr. Hildebrandt is an Investigator of the Howard Hughes Medical Institute and a Professor of Pediatrics and of Human Genetics at the University of Michigan Medical School. Dr. Hildebrandt’s work is concerned with the identification and functional characterization of recessive single-gene causes of kidney diseases in children. His group has identified over 20 novel kidney disease genes. This work implicated the primary cilium and centrosomes in nephronophthisis, thereby contributing to the identification of “ciliopathies” as a new class of human disease. Gene identification also extends to nephrotic syndrome and congenital malformations of the kidney and urinary tract. His lab studies the function of newly identified disease genes in disease models of mice and zebrafish. Recently, his lab has developed efficient methods for gene identification using total human exome capture and massively parallel sequencing.

Academic Appointments:

1990 - 1995 – Pediatric Registrar (C1), Venia legendi in Pediatrics 1995

1995 - 2001 – Attending in General Pediatrics and Ped. Nephrology, Freiburg Univ. Children's Hospital

2001 - Present – Professor of Pediatrics, University of Michigan, Ann Arbor, Michigan

2001 - Present – Professor of Human Genetics, University of Michigan, Ann Arbor, Michigan

2008 - Present – Investigator, Howard Hughes Medical Institute (HHMI)

Peter Jackson (Genentech Inc., USA)

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Nicolas Katsanis (Duke University, Durham, NC, USA)

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Heymut Omran (University of Münster, Germany)

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Greg Pazour (University of Massachusetts, USA)

Dr. Pazour received his PhD in biochemistry at the University of Minnesota.  He did post doctoral work with Dr. George Witman at the Worcester Foundation on the assembly mechanisms of eukaryotic cilia.  This work demonstrated that defects in primary cilia cause cystic kidney disease.  Dr. Pazour is currently an Associate Professor of Molecular Medicine at the University of Massachusetts Medical School.  His laboratory is working to understand the function of the mammalian primary cilium and the assembly mechanisms by which these complex organelles are assembled.  In particular, the laboratory is interested in the role of the intraflagellar transport system in the sorting and transport of membrane proteins that will be localized to the ciliary compartment.


Pazour GJ, Dickert BL, Vucica Y, Seeley ES, Rosenbaum JL, Witman GB, and Cole DG.  2000.  Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene Tg737, are required for assembly of cilia and flagella.  J. Cell Biol.  151:709-718.  PMCID: PMC2185580.

Pazour GJ, Agrin N, Leszyk J, and Witman GB.  2005.  Proteomic characterization of a eukaryotic cilium.  J. Cell Biol.  170:103-113.  PMCID: PMC2171396.

Follit JA, Tuft RA, Fogarty KE, and Pazour GJ.  2006.  The intraflagellar transport protein IFT20 is associated with the Golgi complex and is required for cilia assembly.  Mol. Biol. Cell.  17:3781-3792.  PMCID: 1593158.

Follit JA, San Agustin JT, Xu F, Jonassen JA, Samtani R, Lo CW, and Pazour GJ.  2008.  The golgin GMAP210/TRIP11 anchors IFT20 to the Golgi complex.  PLoS Genetics.  4:e1000315.  PMCID: 2602600.

Follit JA, Li L, Vucica Y, and Pazour GJ.  2010.  The cytoplasmic tail of fibrocystin contains a ciliary targeting sequence.  J. Cell Biol. 188:21-8.  PMCID: PMC2812845.

Jeremy Reiter (University of California, San Francisco, USA)

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Enza Maria Valente (University of Messina, Italy)

Born in Rome on September 13th, 1972.

Education and Training:

Medical Degree at the Catholic University School of Medicine (July 1994); Certification in Neurology (October 1999); PhD in Neurogenetics, Institute of Neurology, University College of London (May 2003).

Current positions:

Head of the Neurogenetics Group, CSS-Mendel Institute, Rome; Associate Professor of Medical Genetics, University of Messina, Messina.

Research Activities:

Mapping and identification of disease genes, genotype-phenotype correlations and functional characterization of gene products in the fields of ciliopathies, congenital cerebellar and brainstem malformations, and movement disorders.


Italian Ministry of Health, Italian Ministry of University and Research, Telethon Foundation, European Research Council, NIH.

Other experiences and professional membership:

Associate Editor, BMC Neurology and Pediatric Research. Co-author of “Orphanet” online encyclopedia. Invited speaker at several national and International meetings and teaching courses.


National Research Council Prize (1998); Novartis Prize for Neurology (2001); L’Oreal Prize for women in science (2006).

Publications: Author of 117 scientific publications on international peer-reviewed journals (total Impact Factor: 695.1; h-index: 32).

  1. Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis 2010;5:20
  2. Valente EM, Logan CV, Mougou-Zerelli S, et al. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet 2010;42:619-25.

John Wallingford (University of Texas, Austin, USA)

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Brad Yoder (University of Alabama)

Dr. Bradley K. Yoder (b. 1966), Professor , completed his undergraduate studies in biochemistry and molecular biology at the University of Maryland Baltimore County (B.S. 1988), and received a Ph.D. in molecular and cellular biology from the University of Maryland in 1993. His postdoctoral studies were performed at Oak Ridge National Laboratory under the guidance of Dr. Rick Woychik where Dr. Yoder was an Alexander Hollaender Distinguished Postdoctoral Fellow.

His research over the past two decades has focused on the cellular and molecular mechanisms regulating assembly, maintenance, and function of the primary cilium utilizing complementary approaches in mice, C. elegans, and in cell culture models.

Work from his laboratory has utilized genetic screens in C. elegans to identify proteins required for ciliogenesis and cilia mediated signaling activities and how these genes function in pathways (e.g. Daf-2 Insulin/IGF-like pathway) that regulate life span and energy homeostasis.

His group has analyzed in mammalian systems how the cilium regulates important developmental pathways and how loss of the cilium causes abnormalities in left-right body axis specification, limb and tooth patterning, skin and hair follicle morphogenesis, and impairs endochondrial bone formation.

His group is also providing important fundamental insights into the connection between ciliary dysfunction and cystic kidney disorders, and novel roles for neuronal cilia in the regulation of satiation responses, disruption of which causes obesity and type II diabetes.

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