Schedule (updated 6/6/07)

Saturday July 14th, 2007

Joint NCL Congress and BDSRA session on Therapeutic approaches

1PM- 5PM

Welcoming remarks: David Pearce, University of Rochester Medical Center, USA

Session I: Therapeutic approaches for the NCLs

Chairs: David Pearce and Jane Emanuel

Plenary Lecture

Steven Goldman, University of Rochester Medical Center, USA

Stem Cells

NCL Plenary Lecture

Beverly Davidson, University of Iowa College of Medicine, USA

Approaching wide-spread enzyme replacement in patients with TPP-1 deficiency.

Invited Speakers

Robert Steiner, Oregon Health Science Center, USA

A Phase 1 Clinical Study of Human CNS Stem Cells (HuCNS-SC) in Patients with Neuronal Ceroid Lipofuscinosis

Ronald Crystal, Weill Cornell Medical College, USA

Adeno-associated Viral-mediated Gene Therapy for the CNS Manifestations of Batten Disease

Break

NCL presentations chosen from submitted abstracts.

Michael Chang, University of Iowa College of Medicine, USA - Intraventricular enzyme replacement in a mouse model of late infantile neuronal ceroid lipofuscinosis

Atilla Kovacs, University of Rochester Medical Center, USA - Effects of EGIS-8332, a non-competitive AMPA receptor antagonist, on the motor skills of Cln3-knockout mice

Laura Åberg, Helsinki University Central Hospital, Finland - Autoantibodies to GAD65 and intermittent prednisolone in juvenile neuronal ceroid lipofuscinosis

David Pearce, University of Rochester Medical Center, USA - Phenotypic amelioration of a behavioral deficit in Cln3-/- mice by immunosuppression

Krystyna Wisniewski, NYS Institute of Basic Research, USA - Clinical Trial: Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis with Late Infantile and Juvenile Onset

Open Discussion

Welcome reception and attendance of BDSRA Banquet

Sunday July 15th, 2007

NCL Congress

8:30AM- 12:30PM

Welcoming remarks: David Pearce, University of Rochester Medical Center

Session II: Infantile NCL and CLN1

Chair: Beverly Davidson

Plenary Lecture

Maiken Nedergaard, University of Rochester Medical Center, USA -

Astrocytes as active participants in brain function

NCL Plenary Lecture

Sandra Hoffman, University of Texas Southwestern, USA

Palmitoyl-Protein Thioesterase and the Molecular Basis of Infantile NCL

Invited Speakers

Anu Jalanko, National Public Health Institute, Finland

Mouse Ppt1 deficiency is linked to defects in fundamental cellular processes

Mark Sands, Washington University School of Medicine, USA - Systemic and metabolic abnormalities associated with murine Infantile Neuronal Ceroid Lipofuscinosis

Break

NCL presentations chosen from submitted abstracts.

Annina Lyly, National Public Health Institute, Finland - Novel interacting partner of palmitoyl protein thioesterase 1 links PPT1 to lipid metabolism

Catherine Kielar, Institute of Psychiatry, King’s College London, United Kingdom - Pathological involvement of the thalamus in mouse models of NCL extends to non-sensory relay nuclei

Chris Korey, College of Charleston, USA - Genetic and Cell Biological Approaches to Characterizing Ppt1 Function in Drosophila

Poster Session I

Lunch

Sunday July 15th, 2007

NCL Congress

1:30PM- 5PM

Session III: Late-Infantile NCL and CLN2

Chair: Jonathan Cooper

Plenary Lecture

Michael Brenner, University of Alabama at Birmingham, USA

Alexander disease: a genetic disorder of astrocytes

NCL Plenary Lecture

David Sleat, Center for Advanced Biotechnology and Medicine, University of Medicine and Dentistry of New Jersey, USA

Lysosomal proteomics and human disease.

Invited Speakers

David Sleat, Center for Advanced Biotechnology and Medicine, University of Medicine and Dentistry of New Jersey, USA

Rescuing the LINCL phenotype in CLN2 mutant mice

Adam Golabek, Institution for Basic Research, Staten Island, USA

The role of prosegment in TPP I activity and stability

Joan Coates, College of Veterinary Medicine, University of Missouri-Columbia, USA

Phenotypic characterization of a Dachshund model for CLN2

Poster Session II - Presenters will be with posters

Dinner

Workshop

Clinical Scientists – Organizer Jonathan Mink

Monday July 16th, 2007

NCL Congress

8:30AM- 12:30PM

Session IV: Juvenile-NCL

Chair: Sandra Hoffman

Plenary Lecture

Kirill Kiselyov, University of Pittsburgh, USA

Lysosomal deficiencies and cell death in mucolipidosis type IV.

NCL Plenary Lecture

David Pearce, University of Rochester Medical Center, USA

JNCL and CLN3

Invited Speakers

Colleen Stein, University of Iowa College of Medicine, USA

Osmoregulation of CLN3 in the Renal Medulla

NCL presentations chosen from submitted abstracts.

Steven Eliason, University of Iowa College of Medicine, USA - A Knock-In Reporter Model of Batten’s Disease

Break

Denia Ramirez-Montealegre, University of Rochester Medical Center, USA - Arginine Defects in JNCL: Implications for Nitric Oxide Production

Nuno Osorio, Universidade do Minho Campus de Gualtar, Portugal - Arginine related nitric oxide synthesis defect in btn1-?: possible implications for JNCL pathogenesis

Stephan Storch/ S. Pohl, Universitätskrankenhaus Eppendorf, Germany - Up-regulation of lysosomal acid phosphatase (ACP2) in CLN3-deficient cells and Cln3 -/- mouse brain

Jared Benedict, University of Rochester Medical Center, USA - Loss of a CLN3 protein interaction may lead to specific cerebellar phenotypes in the Cln3-/- mouse

Srinivas Narayan, Children’s Hospital of Philadelphia, USA - Palmitoyl-protein desaturase activity demonstrates intermediate activity in neuronal tissues from heterozygote cln3 knockout mice

Hannah Mitchinson, University College London, United Kingdom - Dysfunction of autophagic and endocytic pathways in Batten disease (CLN3)

Lunch

Monday July 16th, 2007

NCL Congress

1:30PM- 6:00PM

Session V: Common Themes and NCL Comparisons Chair: Glyn Dawson

Plenary Lecture

Steven Walkley, Albert Einstein College of Medicine, USA

Thinking “Outside the Organelle” to Understand Lysosomal Disease

NCL Plenary Lecture

Jonathan Cooper, Kings College, London, United Kingdom

Common themes in mouse models of NCL?

Invited Speakers

Susan Cotman, Harvard Medical School, USA

Cln3 and Cln6 disease mutations cause similar yet distinct phenotypes in mice and in cultured cells

Sara Mole, University College London, United Kingdom

Re-interpretation of the genotype-phenotype correlations in Batten disease are changing our perspective of the disease

Break

NCL presentations chosen from submitted abstracts

Rose-Mary Boustany, Duke University Medical Center, USA - NCL: A Common Pathway

Taina Autti, Helsinki University Hospital – Rontgen, Finland - T2 and T1 -weighted images, proton density images and FLAIR images show abnormal signal intensity in CLN1, CLN3 and CLN 5

Elena Rusyn, Duke University Medical Center, USA - Altered NCL lipid raft morphology and sphingolipids

Claire Russell, University College London, United Kingdom - Generation of zebrafish models of Neuronal Ceroid Lipofuscinosis

Elina Maaranen, National Public Health Institute, Helsinki, Finland - Comparison of gene expression patterns of Cln1, Cln3, Cln5 and Cln8 deficient mouse models

Poster Session III

Dinner on your own

Workshops

Batten Foundation Presentations – Organizer, Frank Stehr

Rare NCL Gene Consortium – Organizer, Sara Mole

Tuesday July 17th, 2007

NCL Congress

9AM- 12:30PM

Session VI: CLN3 – Chair: Anu Jalanko

Plenary Lecture

William Gahl, National Institutes of Health, USA

Cystinosis

NCL presentations chosen from submitted abstracts.

Sergio Padilla-Lopez, University of Rochester Medical Center, USA - Evidences for Btn1p as an uncoupler of the vacuolar ATPase complex in Saccharomyces cerevisiae

Rebecca Haines, University College London, United Kingdom - Identifying functional domains of btn1, the Schizosaccharomyces pombe orthologue to the juvenile NCL gene CLN3

Stephan Storch, Universitätskrankenhaus Eppendorf, Germany - C-terminal prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes

Break

Mika Ruonala, European Neuroscience Institute, Germany - Getting a grip of CLN3

Seasson Phillips-Vitiello, University of Rochester Medical Center, USA - Identification of an evolutionarily conserved protein interaction with CLN3

Claudia Kitzmuller, University College London, United Kingdom - CLN3 is involved in cytoskeletal organisation

Kristiina Yliannala, National Public Health Institute, Finland - Novel interactions of JNCL protein CLN3: Implications for function in plasma membrane association of Na+, K+ ATPase

Richard Tuxworth, Kings College of London, United Kingdom - Drosophila as a model system for understanding Cln3 cell biology

Lunch

Tuesday July 17th, 2007

NCL Congress

1:00PM- 5:30PM

Session VII: Variant NCLs, CTSD, CLN5, CLN6, CLN7, CLN8, and CLN9

Chair: Mark Sands

Plenary Lecture

Jaana Tyynela, University of Helsinki, Finland

Cathepsin D deficiencies

Invited Speakers

Thomas Braulke, University of Hamburg, Germany

Analysis of pathomechanisms in NCL mouse models

David Palmer, Lincoln University, New Zealand

Studies Towards Anti-inflammatory and Gene Therapy in Ovine Batten Disease

Peter Houweling, University of Sydney, Australia

Four large animal models of the Neuronal Ceroid Lipofuscinoses CLN5 & CLN6

Break

NCL presentations chosen from submitted abstracts.

Robert Steinfeld, University of Göttingen, Germany - Partial cathepsin D deficiency is associated with juvenile and adult neuronal ceroid lipofuscinosis

Romina Kohan, Center for the Study of Inborn Errors of Metabolism (CEMECO) Children’s Hospital, National University of Cordoba, Argentina - First CLN5 mutations in Argentina

Carlos Bessa, Instituto Genetica Medica, Unidade de Enzimologia, Portugal - The CLN5 protein defective in the Finnish vLINCL is a junctional plasma membrane protein

Aija Kyttala, National Public Health Institute, Finland - CLN5- A link for common molecular pathways underlying neuronal ceroid lipofuscinosis?

Carina von Schantz, National Public Health Institute, Finland - Progressive neuron loss in the thalamocortical system of Cln5 deficient mice: evidence for distinct effects in Finnish variant late infantile NCL

Arne Quitsch, University of Hamburg, Germany - Functional analysis of the down regulation of GABAAa2 receptor subunits in the brain of nclf-mice

Jared Benedict, University of Rochester Medical Center, USA - The ER resident protein CLN6 interacts with a protein involved in axon guidance

Eija Siintola, Folkhälsan Institute of Genetics, Finland - The novel neuronal ceroid lipofuscinosis gene CLN7 encodes a putative lysosomal transporter protein

Rose-Mary Boustany, Duke University Medical Center, USA - In Search of the CLN9 gene and Protein

5:15PM – 6:00PM

Conference Wrap Up/Discussion