Program

Registration
5.00pm – 6.00pm Friday 27th July 2012

Welcome Reception
7.00pm – 8.30pm Friday 27th July 2012

Saturday July 28th
Joint Scientific/Family Session Chair:
8.30am Welcome, introductions, opening remarks John Forman, Sara Cathey
8.45am Keynote speaker – Overview of glycoproteinoses, old and new questions – Looking to contemporary research for answers Richard Steet
9.15am Effective treatment for rare disease – How do we get there TBA
9.35am Cerebellar pathology and Ataxia as therapeutic outcome measures for ERT in Alpha Mannosidosis
 Judith Blanz
10.00 – 10.30 Morning Break
Scientific Program Chair: Family Program Chair:
10.30 Translating science to therapy for galactosialidosis Sandra D'Azzo 10.30 Glycoproteinoses – Highlighting the challenges  
10.50 Haematopoietic stem cell transplant in glycoproteinoses Troy Lund 10.50 Genotype phenotype correlation in the glycoproteinoses – Mucolipidosis as an example TBA
11.10 Animal model of glycoproteinoses found in nature and in laboratories Mark Haskins 11.10 Overview of therapeutic approaches TBA
11.30 Platform talk(s) from submitted abstracts TBA 11.30 Understanding neurologic symptoms and signs Marc Patterson
 
  11.50 Questions and answers  

12.15 – 1.15

 Lunch and poster viewing
Scientific Program Chair: Family Program Chair
1.15 Bone disease – Before, during and after dysostosis multiplex Jules Leroy 1.30 Bone marrow transplant in alpha mannosidosis Troy Lund
1.35 Crossing the Blood/Brain Barrier
 Bill Sly
 1.50 Family experience of BMT TBA
1.55 The schindler Enzyme Behaves differently
 Tim Wood
 2.10 Managing skeletal complications in glycoproteinoses (hips, shoulders, spine, hands, feet) John Davids
2.15 Excessive Activity of Cathepin K and cartilage defects in a Zebera fish model in Mucolipidosis type II
  Richard Steet
 2.30 Pain management in glycoproteinosis TBA
2.35
 Sialidosis - (Junior Investigator from Dr. d'Azzo's lab
 TBA


  Questions and answers   2.45 Questions and answers  
3.00 – 3.30 Afternoon Break
Scientific Program Chair: Family Program Chair:
3.30 Platform talk(s) from submitted abstracts
   3.30 Ophthalmic complications in glycoproteinoses TBA
4.00
  Questions and Answers
   3.50 Dental care in Glycoproteinoses
  

    4.10 Family experience of managing dental care for their child Nila Coley
4.30 – 5pm Poster viewing sessions   4.30 Poster Viewing session
7pm ISMRD Gala Dinner
Sunday 29th July
Scientific Program Chair: Family Program Chair:
8.30 Lysosomal trafficking and exocytosis Andrea Ballabio 8.30 Managing ataxia and seizures – What to do
8.50 Proteomics of the lysosome Peter Lobel 8.50 Getting the right clinical care for patients with glycoproteinoses  John Forman
9.10 Tandem mass spectrometry and screening for oligosaccharidoses   9.10 Natural history study – What are they and why are they important – Update of study

 

TBA
9.30 Platform talks from submitted abstracts
9.30 Questions and Answers
10.00 – 10.30 Morning Break
Joint Scientific/Family Session Chair:
10.30 TBA  
10.50 TBA  
11.10 TBA  
11.30 TBA  
11.50 General discussion TBA
12.15 ISMRD's future direction for research and fundraising TBA
12.45 Closing remarks TBA
1.00 Shared Scientific/Family Lunch