PXE Research Meeting 2010
November 29-30, 2010
North Bethesda Marriott 

Register online

Agenda 
Abstract Submissions 
Registration  
Scholarships 
Cancellation
Lodging 
Travel from Airport to Hotel 

AGENDA

Monday, 29 November 2010

8:00 AM	Registration/Breakfast
8:30 AM	What are we here for? Sharon Terry, PXE International
8:45 AM	Keynote Therapeutic Development for Rare Diseases: The Plan of Action Christopher Austin, NCGC, NHGRI, NIH
9:15 AM	Basic Science of ABC Transporters Chair: Irwin Arias, NICHD, NIH ABC family - Michael Dean, NCI, NIH The genetics of ABCC6 and creation of NLM rare disease database - Timothy Hefferon, NHGRI, NIH Mechanisms of drug conjugate transport - Irwin Arias, NICHD, NIH The ABCC6 protein: modeling and structure-function studies - András Váradi, Hungarian Academy of Science, Budapest, Hungary Transcriptional regulation of the gene - Tamás Arányi, Hungarian Academy of Science, Budapest, Hungary
11:00 AM	Break
11:15 AM	PXE Basic Science Chair: Jouni Uitto, Jefferson Medical College Genotype/phenotype correlations - Anne DePaepe, University of Ghent, Ghent, Belgium (invited) Pathology of elastic structures: primary or secondary effect? - Jeffrey Davidson, Vanderbilt University, Nashville, TN Therapeutic approaches to inhibit elastic fiber calcification in PXE:  New perspectives derived from treatments of PXE fibroblasts - Ivonne Ronchetti, Unviersity of Modena and Reggio, Modena, Italy Bruch's membrane and PXE - Arthur Bergen, Netherlands Institute for Neuroscience, University of Amsterdam, The Netherlands (invited)
1:00 PM	Lunch
2:00 PM	Human Disease Associated with ABC Transporters Chair: Michael Gottesman, NCI, NIH ABC transporters and human disease: an overview - Michael Gottesman, NCI, NIH Dubin-Johnson and Tangier diseases - Patrick Thibedeau, University of Pennsylvania, PA (invited) Retinitis Pigmentosa, Stargardt's disease and age-related macular degeneration - Rando Allikmets, Columbia University, NY
3:30 PM	Break
3:45 PM	Animal Models Chair: Olivier LeSaux, University of Hawaii The PXE mouse - Qiujie Jiang, Jefferson Medical College, Philadelphia, PA PXE zebra fish model - Qiaoli Li, Jefferson Medical College, Philadelphia, PA In vivo expression and maturation of the human ABCC6 and its PXE-mutants in mice liver - Olivier LeSaux, University of Hawaii
5:15 PM	Summary of the Day Jouni Uitto
5:45 PM	Poster Session and Reception
6:45 PM	Dinner  Presentation of PXE International Award to Jouni Uitto, MD, PhD

Tuesday, 30 November 2010

8:00 AM	Breakfast
8:30 AM	Hypotheses Chair: TBD Vitamin K-dependent g-glutamyl carboxylation reactions - Kathleen Berkner, Case Western Reserve University, Cleveland, OH Vitamin K as a substrate for ABCC6 transport - TBD Dietary magnesium as a modifier of mineralization - Jennifer LaRusso, Jefferson Medical College, Philadelphia, PA (invited) Role of serum fetuin-A in PXE - Doris Hendig, Herz- und Diabeteszentrum Nordrhein-Westfalen, Institut Für Laboratoriums- und Transfusionsmedizin, Germany Modifier genes involved in PXE - Olivier Vannaker, Ghent University Hospital, Ghent, Belgium
10:30 AM	Break
10:45 AM	Clinical Studies Chair: Lionel Bercovitch, Brown University, Providence, RI Treatment for the eye - Emily Chew, NEI, NIH Renagel study - Mark Lebwohl, Mt. Sinai School of Medicine Pediatric study - Ludovic Martin, Angers University Hospital, Angers, France Ethical issues in predictive genetic testing for children - Lionel Bercovitch, Brown University, Providence, RI
12:15 PM	Lunch
1:15 PM	Consensus: Diagnostic Criteria Proposal Chair: Lionel Bercovitch, Brown University, Providence, RI Arthur Bergen Anne DePaepe Mark Lebwohl Martin Ludovic Jouni Uitto
3:00 PM	Break
3:15 PM	Panel Discussion: Towards Treatment Moderator: Jouni Uitto, Jefferson Medical College Irwin Arias Chris Austin Lionel Bercovitch Patrick Terry
5:00 PM	Summary Charge Patrick Terry, PXE International

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ABSTRACT SUBMISSIONS

• Abstract submission deadline: October 10, 2010.
• Authors are requested to submit abstracts in ENGLISH.
• Abstracts must be submitted online Click Here
• Topics considered:
  • Basic Science of ABC Transporters
  • Basic PXE Science (mechanisms in skin, eyes, vascular, cardiac...)
  • Human Diseases Associated with ABC Transporters
  • Animal Models (that may contribute to understanding PXE or its pathomechanisms)
  • Hypotheses (that might advance treatment development)
  • Clinical Studies
  • Diagnostic Criteria
  • Other relevant topics
• The abstract should not exceed 350 words. Abstracts that do not comply with the guidelines will not be accepted.
• Abstracts may be submitted for oral or poster presentations. Please indicate your preference.
• Abstract titles should not be longer than two lines and should NOT be in all caps.
• All abstracts must be structured as follows:
  • Background: A statement of the hypothesis or research question.
  • Methods: An explanation of the study design and experimental methods used.
  • Results: A concise summary of the major findings of the experiment or study. Sufficient data must be provided to permit evaluation by the reviewers and public reading the abstracts.
  • Statements such as "additional information to be presented at the meeting" are not acceptable.
  • Conclusion: Summary of the overall findings and the importance of the study.
• All abstracts will be reviewed by the Planning Committee. The accepted abstract will be assigned to appropriate poster or oral sessions. A notification will be emailed to every author.
• All authors who wish to present their abstract at the conference must pay the registration fee. No honorarium, travel or accommodation expenses will be provided for presentations.
• Please contact Sharon Terry if you have any questions regarding abstract submissions (email: sterry@pxe.org)

REGISTRATION

Register online

Registration fee includes all meals, breaks and the poster reception, from Monday, November 29, 2010 at 8:00 AM to Tuesday, November 30, 2010 at 5:00 PM.  Price is in U.S. dollars.

• $150 General Registration  
• $0 Invited Speaker

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SCHOLARSHIPS

Scholarship Application

One (1) student, one (1) disabled individual, and four (4) minority applicants will receive travel, lodging and registration to the PXE Research Meeting 2010. Recipients of the award must write a report in lay language about one aspect of the meeting, minimum 750 words, by December 30, 2010.

Deadline for submission of application is October 11, 2010. We will confirm the receipt of your application by email. Applicants will be notified whether their application has been accepted or rejected no later than October 18, 2010.

Student Eligibility Criteria: Graduate student in a science or health services major.

Disabled Individual Eligibility Criteria: Disabled, student or scientist - currently or formerly, 18 years or older, in a research science or health services program - currently or formerly.

Minority Eligibility Criteria: Minority graduate students in a research science or health services program. Specifically, applicants must be members of one of the following racial/ethnic groups:

• Black/African American
• Latino/a (e.g. Mexican American, Puerto Rican, Cuban) 
• American Indian or Alaskan Native 
• Asian (e.g. Chinese, Japanese, Korean, Southeast Asian) 
• Pacific Islander (e.g. Hawaiian, Guamanian, Samoan, Filipino)

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