National Gaucher Foundation - Gaucher Disease
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National Gaucher Foundation, Gaucher Conference 2010

November 7 & 8, 2010
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Marriott Atlanta Buckhead Hotel and Conference Center

Click a topic to see the video.


DAY ONE
Sunday, November 7, 2010
Time Topic and Content Speaker Affiliation
07:50 Welcome and Opening Remarks Rhonda P. Buyers
CEO / Executive Director NGF
National Gaucher Foundation
40:00 Perspectives on the Disease for the Gaucher Patient
• Redefined Phenotype
• Enzyme Replacement in Gaucher
• Lessons Learned
• Summary of 24 Yrs. of experience with ERT
• Classical principals of treatment
• What happens to patients not properly treated?

John A Barranger MD/PHD Lysosomal Storage Disease
Clinical Care Network
Pittsburgh PA 15202
55:38 Therapeutic Goals Evaluation and Assessment
• Gaucher Clinical Care and Evaluation
• Follow up evaluations with your physicians and when and what to monitor
• Treatment Goals for Type 1 Gaucher Disease
• Assessing improvements over the long term
• Gaucher testing and evaluation of those tests
Dr. Pramod Mistry Yale University School of Medicine
2:03:03 Drug Therapies (Includes FDA approved treatments and treatment protocols)
• Session will be led by a panel of doctors, which include members of NGF's Medical Board. Each panel member also consults for one or more of the pharmaceutical companies. Panel members will discuss the various treatments with which they have been involved and lead into 15-minute discussions by each pharmaceutical representative.
• A physician/researcher from each pharmaceutical company will discuss peer-reviewed published data regarding each of the drug therapies.

Panel Members:
• Dr. Gregory Grabowski,
Cincinnatti Children's Hospital Medical Center
• Dr. Greg Pastores
NYU Medical Center
• Dr. John Barranger
University of Pittsburgh
Speakers on behalf of:
Actelion
Dr. Rajiv Patni
U.S. Executive Medical Officer, Actelion

Genzyme
Dr. Richard Moscicki
Chief Medical Officer, Genzyme Corporation
Shire
Dr. Norm Barton
Senior Fellow Disease Expert, Shire
40:44 Research and Clinical Trials
Discussion on current research and clinical trials on Gaucher treatments.
Dr. Joel Charrow Professor of Pediatrics
Feinberg School of Medicine
Northwestern University
Head Division of Genetics, Birth Defects and Metabolism
Children's Memorial Hospital
56:41 Bone Involvement and Bone Repair
Discussion regarding the effects of Gaucher disease on the skeletal structure, including various medications, vitamins, minerals and dietary methods for improving bone health. The importance of monitoring patients taking bisphosphonates.
Dr. Gregory Grabowski Cincinnati Children's Hospital
Medical Center
DAY TWO
Monday, November 8, 2010
Time Topic and Content Speaker Affiliation
43:25 Unique Issues in Treating Type 1 Children
• What differences are there between treating babies and children vs. adults
• What unique issues should parents know about before having their children treated for Gaucher?
Dr. Paige Kaplan Children's Hospital of Philadelphia Section of Biochemical Genetics
26:17
Gaucher Type 2 & 3/Treating the Neuronopathic aspects of the Disease
• Where do we go from here
• What's on the horizon and how close are we to treating the neurological implications involved with Gaucher 2 & 3?
• Is there any neurological involvement with Type 1 Gaucher disease?

Dr. Raphael Schiffman Institute of Metabolic Disease
Baylor Research Institute
29:12 Making Leaders of Ourselves: A national initiative for Gaucher disease
Medicine is in for a radical change as the old guard gives way to performance-driven teams. Patients with Gaucher disease are in dire need of new drugs to treat different aspects of disease pathophysiology, and new tests to understand the occurrence and progression of different symptoms.
Dr. Ozlem Goker-Alpan Director of Lysosomal Disorders Research and Treatment Unit Center for Clinical Trials
O & O Alpan, LLC
Springfield, VA
34:38
Gaucher and Parkinson's
• Is there a  correlation between Gaucher's Disease and Parkinson's Disease?
• Do all patients who have Gaucher's get Parkinson's, or only those patients whose immediate  family members carry the Gaucher gene and have Parkinson's,  or is it just random? 
• Latest research and data.
Dr. Ellen Sidransky
and Grisel Lopez
National Institutes of Health
17:15
Technical Aspects of Gaucher disease
• Why the body produces the lipid Glucocerebrosidase and the mechanism for reducing this production.
• The value of biomarkers in the clinical management of lysosomal storage diseases.
• Using Chito as a bio marker.
• Lysosomes that are storing the lipid Glucocerebrosidase and the process of pumping out many different proteins as a way to try to cope. Chito may be the most prevalent. However, there are many others, and the effect of these is not well understood.
• Understanding the substances that the lysosomes produce and subsequent damage to surrounding tissue, resulting in lesions and scarring of bone, bone marrow destruction, etc. What are the prospects for a cure for Gaucher?
Dr. Roscoe Brady
Scientist Emeritis
National Institutes of Health
49:09 Gaucher Registry
• Value of the Gaucher Registry and using the data.
• What is the data used for?
• Patients' ability to have access to Registry data.
• The importance of all pharmaceutical companies maintaining Gaucher Registries
• How do all the companies work together to have one Gaucher Registry
• Gaucher Registry NXT! How it works.
Dr. Neal Weinreb Regional Coordinator of the International Collaborative Gaucher Group
Director of University Gaucher Disease - Fabry Disease
Treatment Center University Research Foundation for Lysosomal Storage Diseases
31:45 Regional Gaucher Centers as they relate to the Registry
• How do Regional centers operate in relationship to the ICGG Registry?.
• The role of the genetic counselors at regional Gaucher centers and how they relate to the Registry.
Karen Grinzaid, MS, CGC, CCRC Emory University School of Medicine
Dept. of Human Genetic Atlanta, GA
39:24 Psycho-Social Issues Related to Gaucher disease
• Dealing with the emotional effects of having chronic illness, i.e. family guilt, going from a healthy person to someone with a chronic illness.
• Raising children with Gaucher to have healthy self image and self esteem. Discussion on negative emotions (anger, fear, depression, anxiety) related to the disease and its treatment.
• Psychological and psychiatric consequences of Gaucher patient in a family with healthy siblings.
• Issues related to being a parent who has Gaucher disease and their children do not.
Wayne Rosenfield, PhD Center for Mental Health
William W. Backus Hospital
Norwich, CT
34:54 Million Dollar Baby:
Raising a Child with Gaucher Disease

A Mother-Daughter Retrospective on the Challenges of Living and Growing with Gaucher Disease.
Betsy Simon,
Rosalie Borovetz, MSW
Betsy Simon, Patient, Gaucher Advocate & Gaucher Mentor

Rosalie Borovetz holds a Master's degree in Social work and is a Gaucher Mentor
34:39 Healthcare Reform and Insurance
• Healthcare Reform as it exists conference time.
• Health care legislation, or what's left of it, with particular emphasis on insurance issues.
• What we can expect and what we can do to make any difference in the bi-partisanship that has torn apart healthcare and insurance in this country.

Rhonda P. Buyers
CEO / Executive Director NGF
National Gaucher Foundation
30:31 Gaucher disease in other countries and issues they face relative to those in the United States
• A discusson with patients and Gaucher specialists from other countries.
• Obstacles patients face with regard to: Treatment, government and health ministries, communication and ability to receive treatment.

Johanna Parkkinen
Representing Finland and Finnish Gaucher Patients

Rosina Papantonio
Marketing Director NGF

National Gaucher Foundation
01:33 Brief Meeting Wrap Up Rhonda P. Buyers
CEO / Executive Director NGF
National Gaucher Foundation
This Conference was made possible in part from grants received from the following:
Actelion Genzyme Shire