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7pm Dinner8:30pm Keynote Address
Keynote Speaker:
Judith G. Hall, MD, FRCP, FAAP, FCCMG, FABMG, University of British Columbia, BC, Canada
Disease mastery: the importance of gene discovery, molecular screening, the development of collaborative phenotypic databases and the detailed documentation and analysis of the natural history of human genetic disorders using Turner syndrome as a model
Saturday, November 18th
7:00-8:00am Breakfast
Clinical and Molecular Genetic Research Presentations
Twenty minute presentations followed by five minutes for question and answer
8:00am-10:05am
NS Clinical Research: Chair: Bryan Hall, M.D.
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8:00-8:25 am
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Ineke van der Burgt M.D.: Diagnosis of NS; NS Scoring System
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8:25-8:50 am
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Jackie Noonan M.D.: Cardiovascular manifestations and natural history
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8:50-9:15 am
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Michael Patton M.D.: Bleeding disorders, MDS, Leukemia in NS
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9:15-9:40 am
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Mary Ella Pierpont M.D., Ph.D.: Adult manifestations of disease and developmental outcomes
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9:40-10:00 am
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Break
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10:00am- 11:40am
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10:20am-11:35pm
NS Molecular Genetic Research: Chair: Bruce Gelb, M.D.
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10:00-10:25 am
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Maik Huttemann Ph.D.: tyrosine phosphorylation of mitochondrial enzymes and PTPN11
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10:25-10:50 am
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Marco Tartaglia M.D.: The Ras/Raf pathway
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10:50-11:15 am
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Kimihiko Oishi Ph.D.: PTPN11 Fly model
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11:15-11:40 am
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Amy Roberts, M.D.: SOS1, the latest NS gene
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11:40-12:00 pm
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Ben Neel, M.D., Ph.D.: Mouse models for Shp2-evoked disease
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12:00pm-1:00pm
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Lunch
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1:00pm-3:05pm
CFC Syndrome Clinical Research Chair: Decio Brunoni, M.D.
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1-1:25 pm
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Maria Ines Kavamura M.D.: Diagnosis of CFC, the CFC Index
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1:25-1:50 pm
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Angela Lin M.D.: Congenital heart disease in CFC vs. NS and Costello syndrome
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1:50-2:15 pm
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Terri Young, M.D.: Ophthalmologic aspects of CFC
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2:15-2:40pm
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Judith Allanson, M.D.: Gastrointestinal and neurological manifestations of CFC
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2:40-3:05pm
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Karen Gripp M.D.: Clinical care in CFC
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2:40pm-3:05pm
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Judith Allanson, M.D.: CFC Natural History
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3:05pm-3:15pm
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Break
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3:15pm-4:30pm
CFC Syndrome Molecular Genetic Research Chair: Yoichi Matsubara, M.D.
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3:15-3:40 pm
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Kate Rauen, M.D., Ph.D. The molecular genetics of CFC: seeking out the genes
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3:40-4:05 pm
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Yoko Aoki, MD, PhD: CFC genes: structure and function
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4:05-4:30 pm
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Suzanne Schubbert, Ph.D.: KRAS: CFC vs NS
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4:30-4:45 pm
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4:45-6:00 pm
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Break
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Somatic PTPN11 Disease: Chair: Benjamin Neel M.D., Ph.D.
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4:45-5:10pm
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Christian P. Kratz M.D.: JMML germline vs somatic PTPN11 mutations
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| 5:10-5:35pm |
Rebecca Chan M.D, Ph.D: Shp2 mutant effect on bone marrow and blood cell proliferation
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| 5:35-6:00pm |
Judith Leopold, Ph.D.: Phosphotase inhibitors and therapeutic interventions |
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6:00-7:00
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Poster Session
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7:00-8:30 pm
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Dinner
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8:30-10:00 pm
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CFC International and The Noonan Syndrome Support Group Dessert Social
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Sunday Morning, November 19th
Break Out Groups: The chair of each group will lead their section in a discussion of how to practically achieve the general goals identified during the previous day's presentations. The chairs are each leaders in the field of clinical and molecular genetics. Meeting attendees are welcomed to sit in on the break out group discussions.
CFC Clinical Research Chair: D. Brunoni
Participants: J. Allanson, I. Kavamura, A. Lin, T. Young,
NS Clinical Research Chair: J. Hall
Participants: B. Hall, J. Noonan, M. Patton, M.E. Pierpont, W. Robinson, I. van der Burgt
CFC Molecular Research Chair: G. Neri
Participants: Y. Aoki, B. Conger, K. Gripp, , Y. Matsubara, K. Rauen , S. Schubbert
NS Molecular Research Chair: J. Carey
Participants: B. Gelb, M. Huttemann, B. Neel, K. Oishi, A. Roberts, M. Tartaglia
Somatic PTPN11 Diseases Chair: R. Kucherlapati
Participants: R. Chan, C. Kratz, J. Leopold
9:30am-10:30am
Summary Presentations: There will be brief presentations by each break out group chair of the results of their group discussion.
10:30am-12:00pm Panel Discussion: The panelists will be asked to reflect upon Saturday's presentations, to identify key themes, and to suggest general approaches to achieving successful, timely, and relevant translational research. Meeting attendees will have an opportunity to ask questions and make suggestions.
Moderator:
Judith Hall M.D.
Participants:,
Raju Kucherlapati, Ph.D.
Decio Brunoni, M.D.,
John Carey M.D.
Marco Tartaglia M.D.
Bryan Hall M.D.
Giovanni Neri, M.D.
Bruce Gelb, M.D.
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