Welcome to the National Gaucher Foundation’s
Gaucher Conference 2010
Through science, technology and research, we look
forward to brighter futures for our children.
This conference is being held for families and individuals
affected by Gaucher disease, so that they can make informed
decisions concerning their treatment and management of their disease.
Gaucher Conference 2010 – November 7 and 8
Presented by the National Gaucher Foundation
CONFERENCE PROGRAM BOOK INDEX
Speaker/Presenter
Page
Conference Agenda
Rhonda P. Buyers
CEO/Executive Director, NGF
Welcome and Opening Remarks…………………………………………………..1
Dr. John A. Barranger
Perspectives on the Disease for the Gaucher Patient……………………………..2-3
Dr. Pramod K. Mistry
Therapeutic Goals, Evaluation, Management and Assessment………………….4-5
Drug Therapies
Panel Members/Speakers:
Dr. Greg Pastores - Panel Leader…………………………………………………….6
Dr. Gregory Grabowski………………………………………………………………7
Dr. John Barranger……. …………………………………………………………… 8-9
Dr. Ari Zimran…………………………………………………………….…………10
I
Gaucher Conference 2010 – November 7 and 8
Presented by the National Gaucher Foundation
CONFERENCE PROGRAM BOOK INDEX
Speaker/Presenter
Page
Drug Therapies
Additional Speakers
Actelion
Dr. Rajiv Patni
U.S. Executive Medical Officer, Actelion…………………………………………...11
Genzyme
Dr. Richard Moscicki
Chief Medical Officer, Genzyme Corporation………………………………………12
Shire
Dr. Norm Barton
Senior Fellow Disease Expert, Shire…………………………………………………13
Dr. Judith Peterschmitt
Clinical Trials - Oral Medication Eliglustat tartrate - Research Updates……..14
Dr. Joel Charrow
Research and Clinical Trials…………………………………………………….....15-16
Dr. Gregory Grabowski
Bone Involvement and Bone Repair…………………………………………….…17-18
Dr. Paige Kaplan
Unique Issues in Treating Type 1 Children……………………………………….19-20
Dr. Rafael Schiffmann
Gaucher Type 2 & 3/Treating the
Neuronopathic Aspects of the Disease……………………………………………..21-22
II
Gaucher Conference 2010 – November 7 and 8
Presented by the National Gaucher Foundation
CONFERENCE PROGRAM BOOK INDEX
Speaker/Presenter
Page
Dr. Ozlem Goker-Alpan
Making Leaders of Ourselves: A National
Initiative for Gaucher Disease……………………………………………………..23-24
Dr. Ellen Sidransky…………………………………………………………………..25-26
Gaucher and Parkinson’s
Dr. Grisel Lopez……………………………………………………………………...27
Dr. Roscoe Brady
Technical Aspects of Gaucher Disease…………………………………………….28-29
Dr. Neal Weinreb
Gaucher Registry…………………………………………………………………...30-31
Karen Grinzaid, MS, CGC, CCRC
Regional Gaucher Centers as They Relate to the Registry……………………...32-33
Wayne Rosenfield, Ph.D.
Psycho-Social Issues Related to Gaucher Disease………………………………..34
Betsy Simon and Rosalie Borovetz
Parenting a Child with Gaucher Disease/ Growing up with Gaucher………….35
Rhonda P. Buyers
CEO/ Executive Director, NGF
Health Reform and Insurance…………………………………………………….36
Rosina Papantonio
Marketing Director, NGF
Patients/groups/organizations in other countries
and issues they face relative to Gaucher disease.………………………………..37
III
Gaucher Conference 2010 Agenda – November 7 and 8
Presented by the National Gaucher Foundation
AGENDA – DAY ONE
8:30 – 4:30 PM
Breakfast: 8:00 am and Snacks all day
10-minute Q & A after each presentation with the exception of Drug Therapies
8:30 – 8:40 am
Rhonda P. Buyers
CEO/Executive Director, NGF
Welcome and Opening Remarks
8:40 – 9:30 am
Dr. John Barranger
Perspectives on the Disease for the Gaucher Patient
9:30 – 10:20 am
Dr. Pramod Mistry
Therapeutic Goals, Evaluation, Management and Assessment
10:20 - 12:30am
30-Minute Q & A during this session
Drug Therapies
(Includes FDA approved treatments and treatment protocols)
Panel Members/Speakers:
• Dr. Gregory Grabowski,
Cincinnati Children's Hospital Medical Center
• Dr. Greg Pastores - Panel Leader - NYU Medical Center
• Dr. John Barranger - University of Pittsburgh
• Dr.Ari Zimran - Shaare Zedek Medical Center
Additional Speakers
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
12:30-1:30 pm
Lunch & Optional Break Out
1:30-2:05 pm
Dr. Judith Peterschmitt
Clinical Trials - Oral Medication Eliglustat tartrate - research updates
2:05-2:40 pm
Dr. Joel Charrow
Research and Clinical Trials
2:40-3:30 pm
Dr. Gregory Grabowski
Bone Involvement and Bone Repair
3:30-4:30 pm
Optional Break-Out Sessions
Gaucher patients may use the break-out room for discussions.
No media or pharmaceutical corporate executives are permitted in these discussions
Day One Meeting Ends – Group Dinner 6:30 PM
AGENDA – DAY TWO
8:30 - 4:30 pm
Breakfast: 8:00 am
"Snacks all day"
8:30-9:05 am
Dr. Paige Kaplan
Unique Issues in Treating Type 1 Children
9:05-9:40 am
Dr. Raphael Schiffmann
Gaucher Type 2 & 3/Treating the
Neuronopathic Aspects of the Disease
9:40-10:15 am
Dr. Ozlem Goker-Alpan
Making Leaders of Ourselves: A National Initiative for Gaucher Disease
10:15-10:50 am
Dr. Ellen Sidransky
Dr. Grisel Lopez
Gaucher and Parkinson’s
10:50-11:25 am
Dr. Roscoe Brady
Scientist Emeritis – NIH
Technical Aspects of Gaucher Disease
11:25-12:15 pm
Dr. Neal Weinreb
Gaucher Registry
12:15-1:15 pm
Lunch Break & Optional Break-Out
Patients may use break-out room for discussions. No media or pharmaceutical
corporate executives are permitted in these discussions
1:15-2:15 pm
Karen Grinzaid, MS, CGC, CCRC
Regional Gaucher Centers as They Relate to the Registry
2:15-2:50 pm
Wayne Rosenfield, Ph.D.
Psycho-Social Issues Related to Gaucher Disease
2:50-3:25 pm
Betsy Simon and Rosalie Borovetz
Parenting a Child with Gaucher Disease / Growing up with Gaucher
Betsy Simon, Patient, Gaucher Advocate & Mentor
and Rosalie Borovetz, Mother of Betsy & Mentor
3:25-4:00 pm
Rhonda P. Buyers
CEO / Executive Director, NGF
Health Reform and Insurance
4:00-4:30 pm
Rosina Papantonio
Marketing Director, NGF
Patients/groups/organizations in other countries
and issues they face relative to the United States
4:30 -4:45 pm
Rhonda P. Buyers
CEO Executive Director
Brief Meeting Wrap Up
Gaucher 2010 Conference Sponsors
Gaucher
Conference
Schedule
National Gaucher Foundation 2010 Conference
Saturday, November 6
Reception/Registration: 5:00 PM to 8:00 PM
Sunday, November 7
Registration: 7:30 AM to 8:30 AM
Breakfast: 8:00 AM
Conference: 8:30 AM to 4:30 PM
Lunch: 12:30 PM to 1:30 PM
Optional break-out: 3:30 PM to 4:30 PM
Group Dinner: 6:30 PM
Monday, November 8
Breakfast: 8:00 AM
Lunch: 12:15 PM to 1:15 PM
Conference: 8:30 AM to 4:45 PM
Optional break-out: 4:45 PM to 5:30 PM
1
Presentation Information
Rhonda P. Buyers
CEO/Executive Director - National Gaucher Foundation
Date: November 7, 2010
Topic: Welcome and Opening Remarks
Time: 8:30-8:40 am
Rhonda P. Buyers
Title:
CEO/Executive Director
National Gaucher Foundation
Tucker, GA
Biography:
Rhonda Buyers has worked for the National Gaucher Foundation (NGF) for the past 16 +
years. She began her career as Director of Development and moved on to become its
CEO and Executive Director. Her responsibilities to the Foundation are myriad and
include duties seemingly divergent from one another. Primarily, Rhonda Buyers
oversees the day-to-day operation of the NGF and oversees the entire budget for the
National Gaucher Foundation. She is responsible for allocations of all monies to
programs such as Patient Resources, patient meetings, awareness and education
programs, as well as research. She attends many of the patient meetings and speaks at
many conferences and seminars. For many years, her interests and concerns have
evolved to include many other Lysosomal Storage Disorders. She has coordinated many
programs with other genetic disease foundations, assisted them with their programs and
has been an outspoken advocate on insurance and legislative issues relative to genetic
diseases. Her experience enabled her to serve on many boards and become an advisor to
many rare genetic disease organizations. Rhonda’s enthusiasm and knowledge has
assisted both national and global organizations to flourish and grow and was a leader in
helping to unite those with similar missions and interests.
Because of treatments developed by these pharmaceutical
companies, children may no longer have to suffer the
consequences and debilitating effects of Gaucher disease Type 1.
Thank You To Our
Gaucher Conference Sponsors
National Gaucher Foundation
2
Presentation Information
John A. Barranger, M.D., Ph.D.
Date: November 7, 2010
Topic: Perspectives on Disease for the Gaucher Patient
Time: 8:40-9:30 am
John A. Barranger, M.D., Ph.D.
Title:
Professor, University of Pittsburgh
Department of Human Genetics
Pittsburgh, Pennsylvania
Consultant, Genzyme Corporation
Biography:
Dr. John A. Barranger is a professor of Human Genetics at the University of Pittsburgh. In 2004, he
increased consulting activities to expand his role in Gaucher disease and other lysosomal diseases. In
this consulting work, he collaborates with other scientists on cell and original models useful for
improving existing, as well as, developing new therapies for lysosomal diseases. He is also involved in
the planning and evaluation of a variety of clinical trials. In this consulting role, he travels extensively
to train and educate. He evaluates testing laboratories and instructs laboratory directors and technicians
on the execution of diagnostic studies for lysosomal disorders. In clinical outreach work, he provides
education on clinical diagnosis and treatment that impacts many hundreds of patients. Prior to 2004, Dr.
Barranger was a professor in the Department of Human Genetics and was Acting Chair. He held
appointments in Molecular Genetics and Biochemistry, and Pediatrics at the University of Pittsburgh
where he developed and directed the Human Gene Therapy Applications Laboratory, the Center for the
Study and Treatment of Jewish Genetic Diseases, and the Comprehensive Gaucher Disease Treatment
Center. He was co-director of the Human Gene Therapy Center, and Medical Director of the Molecular
Medicine Institute. Previously, Dr. Barranger was a scientist at the National Institutes of Health (NIH),
where, from 1976 to 1978, he served in the Clinical Investigations and Therapeutics Section,
Developmental and Metabolic Neurology Branch (DMNB), National Institute of Neurological and
Communicative Disorders and Stroke. He ultimately became Chief of the Molecular and Medical
Genetics Section of the DMNB and Associate Branch Chief. Dr. Barranger received a Ph.D. and M.D.
from the University of Southern California Los Angeles, and completed an internship and residency in
pediatrics at the University of Minnesota and a fellowship in Genetics at the NIH. Later, he returned to
LA to lead the Division of Genetics at CHLA.
Dr. John A. Barranger
3
Dr. Barranger has devoted his professional career to the study of inherited metabolic diseases,
particularly lysosomal storage disorders. His research interests include biochemical and molecular
genetics, enzyme therapy, gene transfer, and models of genetic disease. As a result of his investigation
of the structure of glucocerebrosidase and receptors on macrophages, Dr. Barranger developed successful
enzyme replacement therapy for Gaucher disease, an inherited, disabling lysosomal disorder that affects
more than 10,000 people in the United States. This work spawned the emergence of a new
biotechnology industry which began with Genzyme Corporation. The first enzyme replacement therapy
received Food and Drug Administration approval in 1991 and serves as a treatment model for more than
50 related lysosomal storage disorders. It is the paradigm of the practical accomplishments of
translational research. He has published more than 450 papers and abstracts. Included among Dr.
Barranger's honors are the March of Dimes Health Career Award, the United States Public Health
Service Commendation Medal, the Arthur S. Flemming Award, and the Scientific Achievement Award
of the National Gaucher Foundation. In addition to consulting for government and industry, Dr.
Barranger is a member of numerous professional organizations, including the Alpha Omega Alpha,
American Society of Biochemistry and Molecular Biology, American Society of Human Genetics,
Society for Inherited Metabolic Disorders, the Society for Pediatric Research, the American College of
Medical Genetics, and the Ashkenazi Jewish Genetic Disease Consortium
Disclosures:







Defined the structure of glucocerebrosidase
Invented the drug delivery system for glucocerebrosidase (GC)
Provided the proof of principle of ERT in the first patient
Cloned the gene for glucocerebrosidase
Described the most common mutations in the GC gene
Developed a commercial lab for LSD enzymatic and molecular diagnosis
Developed first LSD Treatment Center at a University
Summary Talk:
The talk will briefly summarize the biology and treatment of Gaucher disease – its successes and its
challenges…from the start to “the future.”
Dr. John A. Barranger
4
Presentation Information
Pramod K. Mistry, M.D., Ph.D.
Date: November 7, 2010
Topic: Therapeutic Goals Evaluation and Assessment
Time: 9:30-10:20 am
Pramod K. Mistry, M.D. , Ph.D.
Title:
Prof. of Pediatrics & Internal Medicine
Chief, Department of Pediatric GI/Hepatology
Yale University School of Medicine
New Haven, CT
Consultant, Genzyme Corporation
Biography:
Pramod K. Mistry, M.D., Ph.D., received his medical degree from University of London’s
Royal Free Hospital School of Medicine, London, and did his post-graduate training in
Cambridge, England.
Dr. Mistry is the Director of National Gaucher Disease Treatment Center and Professor
of Pediatrics and Medicine at Yale School of Medicine, New Haven, Connecticut. He is
Board Certified in Internal Medicine and Gastroenterology. He is a member of the
American Association for Study of the Liver, American Society of Human Genetics and
the European Working Group on Gaucher Disease. He is a regional coordinator of the
ICGG and member of medical advisory boards of the National Gaucher Foundation and
the Gaucher Association (UK). Dr. Mistry is the Chairman of the Medical Advisory Board of
the American Liver Foundation (CT Chapter) and serves on the advisory committees of
the National Gaucher Foundation, Gaucher Association (UK) and Cure GSD Children’s
Fund.
Dr. Mistry has authored numerous journal articles, book chapters and reviews on Gaucher
disease. He has received several awards for his work on Gaucher disease, including the
Alan Gordon Memorial Award, Physician of the Year Award from Genetic Disease
Foundation of New York and Fellowship of the Royal College of Physicians of London.
Dr. Pram Mistry
5
Dr. Mistry’s research is focused on natural course of Gaucher’s disease, pulmonary
hypertension and liver disease complicating Gaucher disease and biomarkers. His lab is
developing a new animal model of Gaucher disease. Dr. Mistry’s research is funded by
the National Institutes of Health.
Topic Summary:
Therapeutic Goals Evaluation and Assessment
- Gaucher Clinical Care and Evaluation
- Management of the Disease
- 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
- Using biomarkers to evaluate progress
Dr. Pram Mistry
www.genzyme.com
Genzyme is dedicated to making a major positive impact
on the lives of patients around the world with serious diseases
through innovative products and services.
Proud to support the National Gaucher Foundation.
6
Presentation Information
Gregory M. Pastores, M.D.
Date: November 7, 2010
Topic: Drug Therapies Panel Leader
Time: 10:20 am-12:30 pm
Gregory M. Pastores, M.D.
Title:
Associate Professor of Neurology and Pediatrics at the NYU School of Medicine
New York, NY
Director of the Neurogenetics Laboratory for the Department of Neurology at NYU
New York, NY
National Gaucher Foundation Medical Board
Biography:
Gregory M. Pastores, M.D., is an Associate Professor of Neurology and Pediatrics at the NYU School of
Medicine in New York, and Director of the Neurogenetics Laboratory for the Department of Neurology
at NYU. He graduated from the University of Sto. Tomas in Manila (1983) and received his training in
Pediatrics and Genetics at the Mount Sinai Medical Center in New York (1989) and at the Mayo Clinic
in Minnesota (1991). While at Mount Sinai, he received the Young Pediatric Investigator Award, Mount
Sinai Child Health Research Center, NIH (5 P30 HD28822), 1993-1996, and the Clinical Associate
Physician Award, Mount Sinai General Clinical Research Center, National Center for Research
Resources, NIH (5M01-RR0071), 1996-1997. Dr. Pastores is Board Certified in Pediatrics (1989),
Clinical Genetics (1993) and Clinical Molecular Genetics (1993). He has extensive clinical and research
experience in the diagnosis and management of patients with the lysosomal storage disorders, and had
been engaged in the development and testing of treatments for Gaucher, Fabry, MPS I and VI, Pompe
disease and a late (adult)-onset form of Tay-Sachs disease (GM2-gangliosidosis). He has published over
135 papers, 15 book chapters and two textbooks.
7
Presentation Information
Gregory A. Grabowski, M.D.
Date: November 7, 2010
Topic: Drug Therapies Panel Member
Time: 10:20 am -12:30 pm
Gregory A. Grabowski, M.D.
Title:
The A. Graeme Mitchell Chair in Human Genetics
Professor and Director, Division of Human Genetics
Professor, Pediatrics and Molecular Genetics, Biochemistry, and Microbiology
Founding Scientist of the STAR Lysosomal Disease Center
Cincinnati Children’s Hospital Medical Center (CCHMC)
Cincinnati, OH
National Gaucher Foundation Medical Board Member
Biography:
Dr. Gregory A. Grabowski has been Professor and Director of the Division of Human
Genetics at CCHMC since 1992. He completed his training in Pediatrics and Medical
Genetics/Biochemical Genetics/Clinical Molecular Genetics at the University of
Minnesota from 1974-79. He then rose from Assistant, to Associate to Full Professor
(tenured) at the Mount Sinai School of Medicine in New York City from 1979-1992.
During that time he established his international reputation in the areas of lysosomal
storage diseases and treatment of genetic diseases. He moved to CCHMC to direct and
build the Division of Human Genetics in 1992, which now has 27 faculty and represents
all aspects of Medical/Human Genetics. He serves/has served on numerous National and
International Advisory Boards, Study Sections, and Philanthropic agencies (e.g., Project
Hope). He established the STAR (Service, Treatment, Advocacy, and Research)
Lysosomal Disease Center at CCHMC in 1994. The STAR LSD Center cares for and
provides therapy to over 350 patients/families afflicted with lysosomal diseases. His
personal research activities are directed to the pathogenetic and molecular mechanisms of
heritable diseases, the genetic bases of penetrance, and mechanism-based small molecule
therapies for in situ protein engineering. The NIH and other national agencies have
funded him for the last three decades for such research studies. He has authored over 270
journal publications and other scholarly works. In addition, he maintains an active
clinical practice focused on the lysosomal storage diseases including Gaucher disease,
Fabry disease, Pompe disease, the mucopolysaccharidoses, and other lysosomal diseases.
8
Presentation Information
John A. Barranger, M.D., Ph.D.
Date: November 7, 2010
Topic: Drug Therapies Panel Member
Time: 8:40-9:30 am
John A. Barranger, M.D., Ph.D.
Title:
Professor, University of Pittsburgh
Department of Human Genetics
Pittsburgh, Pennsylvania
Consultant, Genzyme Corporation
National Gaucher Foundation Medical Board
Biography:
Dr. John A. Barranger is a professor of Human Genetics at the University of Pittsburgh. In 2004, he
increased consulting activities to expand his role in Gaucher disease and other lysosomal diseases. In
this consulting work, he collaborates with other scientists on cell and original models useful for
improving existing, as well as, developing new therapies for lysosomal diseases. He is also involved in
the planning and evaluation of a variety of clinical trials. In this consulting role, he travels extensively
to train and educate. He evaluates testing laboratories and instructs laboratory directors and technicians
on the execution of diagnostic studies for lysosomal disorders. In clinical outreach work, he provides
education on clinical diagnosis and treatment that impacts many hundreds of patients. Prior to 2004, Dr.
Barranger was a professor in the Department of Human Genetics and was Acting Chair. He held
appointments in Molecular Genetics and Biochemistry, and Pediatrics at the University of Pittsburgh
where he developed and directed the Human Gene Therapy Applications Laboratory, the Center for the
Study and Treatment of Jewish Genetic Diseases, and the Comprehensive Gaucher Disease Treatment
Center. He was co-director of the Human Gene Therapy Center, and Medical Director of the Molecular
Medicine Institute. Previously, Dr. Barranger was a scientist at the National Institutes of Health (NIH),
where, from 1976 to 1978, he served in the Clinical Investigations and Therapeutics Section,
Developmental and Metabolic Neurology Branch (DMNB), National Institute of Neurological and
Communicative Disorders and Stroke. He ultimately became Chief of the Molecular and Medical
Genetics Section of the DMNB and Associate Branch Chief. Dr. Barranger received a Ph.D. and M.D.
from the University of Southern California Los Angeles, and completed an internship and residency in
pediatrics at the University of Minnesota and a fellowship in Genetics at the NIH. Later, he returned to
LA to lead the Division of Genetics at CHLA.
Dr. John A. Barranger
9
Dr. Barranger has devoted his professional career to the study of inherited metabolic diseases,
particularly lysosomal storage disorders. His research interests include biochemical and molecular
genetics, enzyme therapy, gene transfer, and models of genetic disease. As a result of his investigation
of the structure of glucocerebrosidase and receptors on macrophages, Dr. Barranger developed successful
enzyme replacement therapy for Gaucher disease, an inherited, disabling lysosomal disorder that affects
more than 10,000 people in the United States. This work spawned the emergence of a new
biotechnology industry which began with Genzyme Corporation. The first enzyme replacement therapy
received Food and Drug Administration approval in 1991 and serves as a treatment model for more than
50 related lysosomal storage disorders. It is the paradigm of the practical accomplishments of
translational research. He has published more than 450 papers and abstracts. Included among Dr.
Barranger's honors are the March of Dimes Health Career Award, the United States Public Health
Service Commendation Medal, the Arthur S. Flemming Award, and the Scientific Achievement Award
of the National Gaucher Foundation. In addition to consulting for government and industry, Dr.
Barranger is a member of numerous professional organizations, including the Alpha Omega Alpha,
American Society of Biochemistry and Molecular Biology, American Society of Human Genetics,
Society for Inherited Metabolic Disorders, the Society for Pediatric Research, the American College of
Medical Genetics, and the Ashkenazi Jewish Genetic Disease Consortium
Disclosures:







Defined the structure of glucocerebrosidase
Invented the drug delivery system for glucocerebrosidase (GC)
Provided the proof of principle of ERT in the first patient
Cloned the gene for glucocerebrosidase
Described the most common mutations in the GC gene
Developed a commercial lab for LSD enzymatic and molecular diagnosis
Developed first LSD Treatment Center at a University
Dr. John A. Barranger
10
Presentation Information
Ari Zimran, M.D.
Date: November 7, 2010
Topic: Drug Therapies Panel Member
Time: 10:20 am-12:30 pm
Ari Zimran, M.D.
Title:
Associate Professor of Medicine
The Hebrew University and Hadassah School of Medicine
Director, Gaucher Clinic
Department of Medicine
Shaare Zedek Medical Center, Jerusalem
Biography:
Dr. Ari Zimran graduated from the Hebrew University, Hadassah Medical School, Jerusalem, Israel in
1975, and completed his internship in Rambam Hospital Haifa in 1976. He then served several years as a
medical officer in the Israeli army, prior to completing his residency in Internal Medicine at Shaare
Zedek Medical Center in Jerusalem in 1986. During three years of research fellowship at the Scripps
Research Institute in La-Jolla, under the mentorship of Prof. Ernest Beutler, he gained interest in both
molecular and clinical aspects of Gaucher disease. Upon return to Israel he founded a referral center for
patients with Gaucher disease, where over 650 patients have been followed. He participated in several
clinical trials that led to market approval of new treatments for patients with Gaucher disease, both
multi-center and single center studies. He published over 200 papers and edited three books; the third one
in 2007, together with Prof. Tony Futerman from the Weizmann Institute, is a most up-to-date and
comprehensive textbook on Gaucher disease.
Disclosure:
Receives consultancy fees from Shire Human Genetic Therapies; receives consultancy fees and has
options in Protalix Biotherapeutics and sits on their Scientific Advisory Board; receives support from
Genzyme Therapeutics for participation in the ICGG registry; and participates in the Speakers’ Bureau
for Actelion Pharmaceuticals
LASERS PRINTED AT
100%
courage and
your triumphs.
Proud sponsor of the National Gaucher Foundation
www.actelion.com
© 2010 Actelion Pharmaceuticals US, Inc. All rights reserved. 10 356 01 00 0810
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11
Presentation Information
Rajiv Patni, M.D.
Date: November 7, 2010
Topic: Actelion Drug Therapies Representative
Time: 10:20 am-12:30 pm
Rajiv Patni, M.D.
Title:
U.S. Executive Medical Director
Actelion Pharmaceuticals US, Inc
Biography:
Dr. Rajiv Patni is Actelion Pharmaceuticals US, Inc.'s lead medical officer. Dr. Patni is a Board Certified
internist and cardiologist who has held positions in clinical development and medical affairs at Pfizer,
Novartis, and Roche. Over his 11 year tenure in the pharmaceutical industry, he has led multiple
development programs and supported product launches for diseases including essential hypertension,
type 2 diabetes mellitus, acute and chronic heart failure, and pulmonary arterial hypertension. Prior to
joining the pharmaceutical industry, Dr. Rajiv was an academic physician at the Albert Einstein College of
Medicine in New York, where he completed his residency and fellowship. He received his M.D. from
the Mount Sinai School of Medicine and his B.S. from the Sophie Davis School of Biomedical
Education, an accelerated BS/MD Program with the City University of New York.
12
Presentation Information
Richard A. Moscicki, M.D.
Date: November 7, 2010
Topic: Genzyme Drug Therapies Representative
Time: 10:20 am-12:30 pm
Richard A. Moscicki, M.D.
Title:
Chief Medical Officer
Sr. Vice President, Clinical Research & Medical Affairs
Genzyme Corporation
Biography:
Richard A. Moscicki, M.D., is currently Chief Medical Officer and Senior Vice President, Clinical
Development and Medical Affairs at Genzyme Corporation, Cambridge, MA. He joined the company in
1992 as Medical Director. In his current role at Genzyme, he assumes worldwide responsibility for all
aspects of clinical research and medical affairs. Prior to joining Genzyme, Dr. Moscicki served as a
staff physician at Massachusetts General Hospital and was Director of training program in Allergy and
Clinical Immunology for several years. At MGH, his research has been supported by several NIH
awards. Dr. Moscicki has served on the faculty of Harvard Medical School since 1979. Dr. Moscicki
received his medical degree from Northwestern University in 1976. He served his internship in
categorical medicine (1976-77) and residency in internal medicine (1977-79) at the Medical Center
Hospital of Vermont. From 1979 to 1983, he held clinical and research fellowships at MGH and Harvard
Medical School in clinical immunology and immunopathology. He is Board Certified in Internal
Medicine; Allergy and Immunology; and Diagnostic Laboratory Immunology. Dr. Moscicki is a
member of numerous professional societies and is an active member of committees of those societies
and has served as an advisor to USP. He has more than 60 publications and has provided editorial
support for several professional journals.
13
Presentation Information
Norman Barton, M.D.
Date: November 7, 2010
Topic: Shire Drug Therapies Representative
Time: 10:30 am-12:30 pm
Norman Barton, M.D.
Title:
Senior Fellow and Disease Expert, Shire HGT
Biography:
Dr. Norman Barton’s biomedical research career spans 30 years with leadership responsibility for clinical
research programs in both the academic and industrial sectors. The unifying principle throughout his
career has been the research and development of therapeutics for genetic and metabolic disorders
including, but not limited to: Gaucher disease, Fabry disease, Niemann-Pick disease and intractable
gout. Relevant to our discussion today, Dr. Barton designed the clinical development program that lead
to the approval of the first enzyme replacement product for type 1 Gaucher disease. Recognition for this
contribution included the Meritorious Service Medal from the Public Health Service, the Outstanding
Achievement Award from the National Gaucher Foundation and the Alumni Fellow Award from
Pennsylvania State University.
Topic Summary:
Dr. Barton will review the efficacy and safety data of VPRIV, as well as the timeline of the clinical
development program.
The benefit
of community
is support
The result
of support is a
stronger community
Shire continues its commitment to
providing assistance for people with
life-altering conditions.
OnePath is a service mark of Shire Human Genetic Therapies, Inc.
Shire Human Genetic Therapies, Inc. • 700 Main Street • Cambridge, MA 02139 • www.shire.com
©2010 Shire Human Genetic Therapies, Inc. US/COR-00194-Sep10
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Presentation Information
Judith Peterschmitt, M.D.
Date: November 7, 2010
Topic: Clinical Trials- Oral Medication
Time: 1:30-2:05 pm
Judith Peterschmitt, M.D.
Title:
Medical Director in Clinical Research at Genzyme Corporation
Biography:
Dr. Peterschmitt currently oversees the eliglustat clinical trials in North and South America.
She is a Board Certified pediatrician and has additional training in medical genetics and neurology. Prior
to working at Genzyme, she was a full time staff geneticist and the Medical Director of the Center for
Treatment of LSD and of the Newborn Screening Program at Prof. A. Posadas Hospital in Buenos Aires,
Argentina. Dr Peterschmitt received her M.D. from the National University of Buenos Aires, Buenos
Aires, Argentina, and her Masters in Medical Sciences (Clinical Investigation) from the combined
program Harvard Medical School – MIT
Topic Summary:
Information on oral medication research updates.
15
Presentation Information
Joel Charrow, M.D.
Date: November 7, 2010
Topic: Research and Clinical Trials
Time: 2:05-2:40 pm
Joel Charrow, M.D.
Title:
Professor of Pediatrics
Feinberg School of Medicine, Northwestern University
Head, Division of Genetics, Birth Defects and Metabolism
Children’s Memorial Hospital
Chicago, IL
Biography:
Dr. Charrow is the director of the Division of Genetics, Birth Defects and Metabolism
and the Genetics Laboratory at Children’s Memorial Hospital, and Professor of Pediatrics
at the Feinberg School of Medicine, Northwestern University. He received his bachelor’s
degree from Antioch College and his M.D. from the Mount Sinai School of Medicine. His
post-doctoral training in pediatrics and clinical and biochemical genetics were at
Children’s Memorial Hospital. He is Board Certified in Pediatrics, Clinical Genetics, and
Biochemical Genetics. Dr. Charrow’s clinical interests are mainly in the area of
biochemical genetics (inborn errors of metabolism), neurofibromatosis, and skeletal
dysplasias. He has been involved with Jewish genetic disorders since the beginning of
his career, directing both research and diagnostic laboratories in this area. He currently
directs Comprehensive Gaucher, Fabry and Pompe Disease Programs at Children’s
Memorial Hospital. He is a member of the North American and International Boards of
the International Collaborative Gaucher Group and is also a member of the North
American Fabry Registry Advisory Board. Dr. Charrow’s research interests include
studying the natural history of genetic disorders, with concentration on
neurofibromatosis, Gaucher disease, Fabry disease, and other lysosomal storage
disorders, developing optimal strategies for treating lysosomal storage diseases, and
studying the methods and pitfalls of population screening for genetic disorders.
Dr. Joel Charrow
16
Dr. Charrow is a founding fellow of the American College of Medical Genetics, and is a
member of the Society for Inherited Metabolic Disorders, the American Society of
Human Genetics, and the American Academy of Pediatrics. He founded the Jewish
Genetic Disorders Program at Children’s Memorial Hospital, and is a member of the
Board of Directors and a founder of the Chicago Center for Jewish Genetic Disorders.
He is currently chairman of the Illinois State Genetic and Metabolic Advisory
Committee. His bibliography includes over 60 peer-reviewed publications on lysosomal
storage disorders, neurofibromatosis and skeletal dysplasias. He has written over 25
book chapters and review articles. Dr. Charrow has received honoraria from Genzyme
for his participation in the advisory boards of the Gaucher and Fabry registries, and for
speaking engagements. He has received research funding from Genzyme, Shire, and
Amicus to support his center’s participation in their clinical trials.
Topic Summary:
Dr. Charrow’s presentation will explore the basic principles underlying the approaches to
treatment of Gaucher disease, including enzyme replacement therapy, substrate synthesis
inhibition, and chaperone therapy. He will discuss current and past clinical trials for
agents in current use and those under development.
Dr. Joel Charrow
We exist because you exist.
As long as familes and individuals with
Gaucher disease need help, we will be there.
You’re not just a face in
the crowd.
We know that anyone can
have Gaucher disease and
each and every one of them is
important to us.
Supporting families and individuals with Gaucher disease since 1984 through
resources and financial, educational, outreach and mentor programs.
2227 Idlewood Road, Suite 6, Tucker, GA 30084
800-504-3189 or 770-934-2910
email: ngf@gaucherdisease.org . www.gaucherdisease.org
17
Presentation Information
Gregory A. Grabowski, M.D.
Date: November 7, 2010
Topic: Bone Involvement and Bone Repair
Time: 2:40-3:30 pm
Gregory A. Grabowski, M.D.
Title:
The A. Graeme Mitchell Chair in Human Genetics
Professor and Director, Division of Human Genetics
Professor, Pediatrics and Molecular Genetics, Biochemistry, and Microbiology
Founding Scientist of the STAR Lysosomal Disease Center
Cincinnati Children’s Hospital Medical Center (CCHMC)
Cincinnati, OH
Biography:
Dr. Gregory A. Grabowski has been Professor and Director of the Division of Human Genetics at
CCHMC since 1992. He completed his training in Pediatrics and Medical Genetics/Biochemical
Genetics/Clinical Molecular Genetics at the University of Minnesota from 1974-79. He then rose from
Assistant, to Associate to Full Professor (tenured) at the Mount Sinai School of Medicine in New York
City from 1979-1992. During that time he established his international reputation in the areas of
lysosomal storage diseases and treatment of genetic diseases. He moved to CCHMC to direct and build
the Division of Human Genetics in 1992, which now has 27 faculty and represents all aspects of
Medical/Human Genetics. He serves/has served on numerous National and International Advisory
Boards, Study Sections, and Philanthropic agencies (e.g., Project Hope). He established the STAR
(Service, Treatment, Advocacy, and Research) Lysosomal Disease Center at CCHMC in 1994. The
STAR LSD Center cares for and provides therapy to over 350 patients/families afflicted with lysosomal
diseases. His personal research activities are directed to the pathogenetic and molecular mechanisms of
heritable diseases, the genetic bases of penetrance, and mechanism-based small molecule therapies for in
situ protein engineering. The NIH and other national agencies have funded him for the last three decades
for such research studies. He has authored over 270 journal publications and other scholarly works. In
addition, he maintains an active clinical practice focused on the lysosomal storage diseases including
Gaucher disease, Fabry disease, Pompe disease, the mucopolysaccharidoses, and other lysosomal
diseases.
Dr.Gregory A. Grabowski
18
Disclosures:
National Institutes of Health: Basic and clinical research grants for the past 30 years that support his
research personnel and salary.
Genzyme Corporation: Basic research, clinical trial, and registry grants. Receives honoraria for
scientific and patient oriented presentations. Dr. Grabowski is a paid consultant.
Shire Human Genetic Therapies Corporation: Basic research, clinical trial, and registry grants. Receives
honoraria for scientific and patient oriented presentations. Dr. Grabowski is a paid consultant on various
aspects of lysosomal acid lipase deficiency diseases.
Amicus Therapeutics Corporation: Previous basic research grants. Receives honoraria for participation
on non-lysosomal disease advisory boards.
Pfizer Corporation: Honoraria for the EPBU Medical Steering Committee.
Project Hope Gaucher Disease Initiative: Travel expenses for board participation. No honoraria.
Talk Summary:
In the presentation, the distinction between bone marrow and cortical bone effects of ET will be
discussed as will the timing of initiation of ET (children vs. adults) and its effects on skeletal disease
manifestations. The issues of delivery of enzyme to bone will be discussed as will the comparative
effects of ET, new substrate synthesis inhibition therapies (a.k.a. substrate reduction therapy), and
bisphosphonates. The critical importance of follow-up and monitoring of these forms of therapy and
their differential effects on the bone marrow and cortical bone will be emphasized.
Dr. Gregory A. Grabowski
19
Presentation Information
Paige (Berman) Kaplan, M.B.B.Ch.
Date: November 8, 2010
Topic: Unique Issues in Treating Type I Children
Time: 8:30 to 9:05 am
Paige (Berman) Kaplan, M.B.B.Ch.
Title:
Paige (Berman) Kaplan M.B.B.Ch.
Professor Emerita, Universiy of Pennsylvania School of Medicine.
Section of Metabolic diseases,
Division of Child Development, Rehabilitation and Metabolic diseases,
The Children’s Hospital of Philadelphia
Philadelphia, PA
Biography:
 Medical school and internship: University of Witwatersrand, Johannesburg,
South Africa
 Pediatric residency and genetics training: Montreal Children’s Hospital,
Montreal, Quebec.
1983-87
Director of Clinical Genetics, Montreal Children’s Hospital
Professional positions:
1987- present Children’s Hospital of Philadelphia - Senior Physician
1996 Professor of Pediatrics, University of Pennsylvania
2002 - 2006 Section chief, Section of Metabolic diseases
Specialty Certifications:
1978
1982
1986
1993
Fellow of the Royal College of Physicians of Canada in Pediatrics
American Board of Pediatrics
Fellow of Canadian College of Medical Genetics
Founding Fellow, American College of Medical Genetics
Awards
● The
Paige & Bernard Kaplan Award for Excellence in Clinical Teaching.
Instituted by the Residents of the Montreal Children’s Hospital in September 1987.
Awarded annually to the best teacher on the attending staff.
● First recipient of Charles & Michael Barnett Endowed Chair in Mitochondrial and
Metabolic Diseases
Dr. Paige Kaplan
20
Special interest in Gaucher disease and similar lysosomal diseases:
Director of Comprehensive Lysosomal Center for children and adults, Children’s
Hospital of Philadelphia: This offers diagnosis, testing, genetic counseling, and
ongoing monitoring for all patients with lysosomal disorders (Gaucher, MPS , Fabry ,
Niemann Pick, Pompe, Tay Sachs) whether or not they are receiving enzyme
replacement.
������
1.
N. American Board Advisor, International Collaborative Gaucher Registry Group
(ICGG): The mission of the ICGG is to increase the knowledge of Gaucher. The
ICGG has
● Published consensus statements & recommendations for monitoring & treating
Gaucher disease.
● Analyzed baseline data and outcomes on many aspects of childhood Gaucher disease.
● Analyzed outcomes of treatment with enzyme replacement
2.
● Analyzed outcomes of patients with Gaucher not receiving enzyme replacement treatment.
3. N. American representative, International Board of Advisors, International Collaborative
Gaucher Registry Group (ICGG)
4. N. American Board of Advisors, MPS I Registry
Other special interests:
1. Biochemical genetics disorders
2. Williams syndrome – Director of multispecialty clinic at Children’s Hospital of
Philadelphia
3. Connective Tissues disorders (Marfan syndrome, Osteogensis Imperfecta, Ehlers
Danlos syndromes) –
4. Director of multispecialty clinic at Children’s Hospital of Philadelphia
Topic:
Children with type I Gaucher disease have different problems and need special attention.
Why should a lot of attention be paid to childhood type I Gaucher and what makes it
different from the adult form? Are there any differences from the adult form?
Many of the problems are the same BUT there are factors in children that are not relevant
in adults, and some in adults that do not affect children. Children are not miniature adults
An overview of general aspects of Gaucher disease will be discussed but special attention
will be paid to specific problems that can develop in childhood, and how to diagnose,
monitor and treat them. Screening and diagnosing a non-symptomatic child at risk for
Gaucher – the benefits and pitfalls will be discussed.
Dr. Paige Kaplan
21
Presentation Information
Raphael Schiffmann, M.D., M.H.Sc.
Date: November 8, 2010
Topic: Gaucher Type 2 & 3/ Treating the Neuronopathic aspects of the Disease
Time: 9:05-9:40 am
Raphael Schiffmann, M.D., M.H.Sc.
Title:
Director
Institute of Metabolic Disease
Baylor Research Institute
Dallas, Texas
Neurometabolic Associates
Biography:
Dr. Schiffmann attended the University of Liège, Belgium where he obtained his M.D. degree cum
laude. He completed training in pediatrics at the Shaare Zedek Medical Center in Jerusalem, Israel and
in pediatric neurology at the Boston City Hospital and Tufts New England Medical Center Hospitals
(Boston Floating Hospital). He is specialty Board Certified in both pediatrics and pediatric neurology.
After two and a half years as a staff pediatric neurologist at Hadassah University Medical Center,
Jerusalem, Israel, he joined the National Institutes of Health. Between 1996 and 2007 he has been the
Lead Investigator directing the clinical research efforts of the Developmental and Metabolic Neurology
Branch in the National Institute of Neurological Disorders and Stroke, National Institutes of Health. In
December 2000 he received the degree of Master of Health Science in Clinical Research from Duke
University. He is currently the Director of Baylor Institute of Metabolic Disease at the Baylor Research
Institute in Dallas, Texas. Dr. Schiffmann’s research has focused on neurogenetic disorders, and in
particular on lysosomal storage diseases, making him a nationally and internationally recognized expert.
He investigated the natural history, pathogenesis and treatment of Fabry disease, including pivotal
studies that lead to the approval of enzyme replacement therapy for this disorder in 45 countries. He
received the Merit Award from the National Institute of Neurological Disorders and Stroke for these
contributions. He also investigated the pathogenesis of the neurological and neuropathological aspects
of Gaucher disease and their response to enzyme replacement therapy and substance reduction therapy.
Dr. Raphael Schiffmann
22
His studies on the neurogenetics of mucolipidosis type IV confirmed the clinical and biochemical
homogeneity of this disease that provided an important step toward identifying the mucolipidosis IV
gene. He discovered three new leukodystrophy syndromes including Childhood Ataxia with Central
Nervous System Hypomyelination (CACH), which is now recognized as one of the most common
leukodystrophies. Dr. Schiffmann has authored 170 peer-reviewed publications, 20 reviews and book
chapters and has presented his research in numerous national and international meetings.
Disclosures:
Has received research funds and speaking honoraria from Shire Human Genetics Therapies, Amicus
Therapeutics and Genzyme Corporation. Also did consulting work for Shire Human Genetics Therapies
and Amicus Therapeutics.
Topic Summary:
Discussion will include the various aspects of Neuronopathic envelopment in Gaucher Disease relative
to those individuals who have Gaucher Disease type 2 & 3.
Dr. Raphael Schiffmann
To Our Dear Josephine
Our eyes are the window to our souls.
Our minds are the keeper of memories.
Our hearts hold love - for those here and gone.
Together they keep you alive, dear Josephine.
Josephine Rose Lampitt
April 20, 2008 to February 16, 2009
Gaucher Type 2
Photo by Victoria Sutherland, February 9, 2009
In Loving Memory of Josephine Rose Lampitt
This is for all of the doctors, researchers, nurses, geneticists, hospitals
and other organizations who contributed to Josephine’s care and comfort
throughout her life.
If you ever lose sight of your importance to the hundreds of children whose lives you
have enriched, please remember Josephine.
We will forever be thankful for those who put their hearts into improving the quality of
Josephine’s and other Gaucher patients’ lives.
Sincerely,
The Lampitts
To read more about Josephine’s life and our journey with her, please log
onto the Children’s Gaucher Research Fund website at www.CGRF.org
In Memoriam November, 2010
To children in the U.S. whom we have lost to Gaucher disease Types 2 & 3
Jared Patrick Ashley: Florida, 5 days short of 1 year old (1998)
Hannah Colwell: Ohio, 9 months and 5 days, (2001)
Ryan James Conklin: South Carolina, 1 year & 4 months old (1999)
James Tyler Cooper: Alabama 21 months old (2001)
Joseph DeFacci: Illinois, 3 years 26 days (1996)
Andrew Dennis Doran: Louisiana, 1 year and 6 months old (1998)
Elsa Enomoto: Hawaii, 3 months old (2007)
Grace Enomoto: Hawaii, 7 months old (2008)
David Escobar: Florida, 7 months (2007)
Grant and Garet Geyer: Oklahoma, 8 months & 24 days old (2000)
Aaliyah Heinzelman: Michigan, 3 years (2008)
Kyle: New York, Two years 1 month (1996)
Josephine Rose Lampitt: Virginia, 9 months (Feb, 2009)
Joseph Lyle Mueller: South Dakota, 6 months and 26 days (May, 2009)
Gregory Macres: California, 4 years old (1997)
Lauren Marsh: Maryland, 14 months old (1992)
Emma Pozzobon: Washington, just shy of 6 years old (2002)
Avery Marshall Plumber: 20 months (2004)
Ryan Rich: Tennessee, 2 years old
Noah Jerome Shaffer: New York, 20 months old (2001)
Cameron Robert Watson: Georgia, 7 months old (1999)
To learn more about Gaucher disease Types 2 and 3 visit these websites:
Children’s Gaucher Research Fund
www.childrensgaucher.org . email: research@childrensgaucher.org
National Gaucher Foundation
www.gaucherdisease.org . email: ngf@gaucherdisease.org
Gaucher’s 2/3 Discussion List
http://health.groups.yahoo.com/group/gauchers23
The tribute above lists the precious children whom the NGF knew about and for which information was
available and permission given to include in this list. There are a number of blogs and websites that
families with Gaucher Type 2 and 3 children have established. You can research Gaucher blogs and websites, or contact the Children’s Gaucher Research Fund at research@childrensgaucher.org to learn more.
National Gaucher Foundation
23
Presentation Information
Ozlem Goker-Alpan, M.D.
Date: November 8, 2010
Topic: Making Leaders of Ourselves: A National initiative for Gaucher disease
Time: 9:40-10:15 am
Ozlem Goker-Alpan, M.D.
Title:
Lysosomal Disorders Research and Treatment Unit
Center for Clinical Trials
Springfield, VA
President and Chief Medical Officer, O&O Alpan, LLC
Springfield, VA
Biography:
Dr. Goker-Alpan received her M.D. degree in 1990 from Marmara University School of Medicine,
Istanbul Turkey with the highest honors as first in her class. She trained in Pediatrics and then served as
a Pediatric Chief Resident at SUNY at Stony Brook, New York. She received Clinical and Biochemical
Genetics fellowship at the National Institutes of Health, Greater Washington Medical Genetics Program
in 1999, and worked as an adjunct scientist at the National Child Health Institute. She completed her
fellowship training in Lysosomal Storage Disorders and Gaucher disease at the Clinical Neuroscience
Branch, NIMH. She coordinated NIH Gaucher Clinic at the Medical Genetics Branch of the National
Human Genome Research Institute until her departure from the NIH in December, 2010. Currently, Dr.
Alpan is the president and chief medical officer of Center for Clinical Trials, O&O Alpan LLC in
Springfield VA, and the director of Lysosomal Research and Treatment Unit, whose missions include
providing cutting edge medicine with a variety of clinical treatment protocols and high quality care by
multi-specialty clinics and day-to-day community primary care for individuals with Gaucher and other
Lysosomal Storage diseases. She is also a medical advisor for the recently established BaltimoreWashington Metropolitan Gaucher patient support group.
Dr. Ozlem Goker-Alpan
24
Disclosures:
Dr. Ozlem Goker-Alpan has been or is an investigator for the pharmaceutical trials sponsored by Shire
HGT, Genzyme Inc, Amicus, and Pfizer-Protalix Biotherapeutics. She is a consultant and/or has
received honoraria from Shire HGT and Pfizer-Protalix Biotherapeutics. She has received grant support
from Shire-HGT. She is on the speaker bureaus of Shire-HGT and Genzyme Inc.
Topic Summary:
Dr. Ozlem Goker-Alpan will discuss the 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
25
Presentation Information
Ellen Sidransky, M.D.
Date: November 8, 2010
Topic: Gaucher and Parkinson’s
Time: 10:15- 10:50 am
Ellen Sidransky, M.D.
Title:
Chief of the Section of Molecular Neurogenetics and is a pediatrician and clinical geneticist in the
Medical Genetics Branch of the National Human Genome Research Institute at the National Institutes of
Health
Bethesda, Maryland
Biography:
Dr. Ellen Sidransky is Chief of the Section of Molecular Neurogenetics and is a pediatrician and clinical
geneticist in the Medical Genetics Branch of the National Human Genome Research Institute at the
National Institutes of Health in Bethesda, Maryland. Dr. Sidransky received her B.A. in Biology from
Brandeis University in 1977 and her M.D. from Tulane University in 1981. She then trained in
pediatrics at Children's Memorial Hospital/Northwestern University, and received her fellowship
training in clinical genetics at the NIH Inter-institute Genetics Training Program. Dr. Sidransky joined
the NIH and began studying Gaucher disease in the laboratory of Dr. Edward Ginns. She has been a
Senior Investigator since 1990. Dr. Sidransky's research includes both clinical and basic research aspects
of Gaucher disease, studies of genotype/phenotype correlation, clinical insights from mouse models, and
the development of new treatment strategies for the lysosomal storage disorders. More recently she has
played a lead role in establishing the association between glucocerebrosidase and Parkinson disease. Her
current research also focuses on understanding the complexity encountered in "simple" Mendelian
disorders. Recently she spearheaded an international collaboration to establish the frequency of
glucocerebrosidase mutations in patients with Parkinson disease which was published in the New
England Journal of Medicine. The author of over 120 publications, Dr. Sidransky directs two NIH
clinical protocols, one evaluating patients with lysososmal storage disorders and the second
prospectively studying patients and relatives with Parkinson disease harboring GBA mutations.
Dr. Ellen Sidransky
26
Topic Summary:
Will discuss a new and unanticipated finding in the field of Gaucher disease, the association of
mutations in the gene for Gaucher disease and Parkinsonism. We noted that occasional patients with
Gaucher disease, as well as their close relatives, developed Parkinson disease. Then, we looked for
mutations in glucocerebrosidase (GBA), the gene involved in Gaucher disease, in other groups of
patients with Parkinson disease, and, to our surprise, discovered that a significant portion of these
patients were carriers of GBA mutations. The results of multiple different studies confirm that mutations
in this gene are the most frequent genetic risk factor found for Parkinson disease identified to date. A
recent combined international collaborative study of more than 5000 patients published in the New
England Journal of Medicine demonstrated that subjects with Parkinson disease were over five times
more likely to carry a GBA mutation than the control group. However, the vast majority of patients and
carriers of Gaucher disease never develop Parkinson disease, so this gene is only one of many risk
factors for this neurological disorder. This association is a clear example of how studies of rare disease
can, at times, lead to insights that are directly relevant to more common disorders. We will discuss
ongoing research and clinical studies designed to better understand the basis for this association.
Dr. Ellen Sidransky
27
Presentation Information
Grisel J. Lopez, M.D.
Date: November 8, 2010
Topic: Gaucher and Parkinson’s
Time: 10:15-10:50 am
Grisel J. Lopez, M.D.
Title:
Senior Staff Clinician, NIH Parkinson Disease Clinic
Bethesda, Maryland
Biography:
Dr. Grisel Lopez is a Staff Clinician at the National Human Genome Research Institute, Medical
Genetics Branch in Dr. Ellen Sidransky’s laboratory. She was previously working at the National
Institute of Neurological Disorders and Stroke where she was the Director of the NIH Parkinson Disease
Clinic. She is a neurologist and Principal Investigator in several clinical protocols relating to the genetics
of Parkinson Disease. She is also a co-investigator in other clinical protocols relating to the
understanding of monogenetic diseases and their association to complex trait disorders. She obtained her
medical degree, residency training and post-doctoral training at the University of Kansas Medical
Center. Prior to her work at the NIH, she was Assistant Professor at the University of Kansas Medical
Center. She is currently working with Dr. Ellen Sidransky in research related to Gaucher disease and its
association to Parkinsonism.
Topic Summary:
Dr. Lopez’s presentation will be a brief description of current research protocols under group’s
supervision currently recruiting participants at the National Institutes of Health.
Special Thanks to The National Gaucher Foundation
For more than 25 years, the National Gaucher Foundation has helped thousands of
families, individuals and organizations in assessing, resolving and navigating the
many issues related to Gaucher disease.
Through their commitment to educational, awareness and outreach programs those
who once suffered from Gaucher disease have greater knowledge and understanding
of the Disease and available treatment options.
We appreciate your many years of service to the rare disease community and your
efforts on behalf of individuals and families with Gaucher disease.
We are grateful to the National Gaucher Foundation for hosting the 2010 Gaucher
Conference and proud to be a part of it.
Thank you
www.protalix.com
T. 972-4-902-8100 | F. 972-4-988-9489 | M. 972-52-844-3344
2 Snunit st., Science Park | POB 455, Carmiel 20100, Israel
28
Presentation Information
Roscoe O. Brady, M.D.
Date: November 8, 2010
Topic: Technical Aspects of Gaucher disease
Time: 10:50-11:25 pm
Roscoe O. Brady, M.D.
Title:
Scientist Emeritus, National Institues of Health
Bethesda, Maryland
Biography:
Dr. Brady obtained his M.D. degree from Harvard Medical School. He interned at the Hospital of
the University of Pennsylvania and was a post-doctoral fellow in the Department of Physiological
Chemistry at the University of Pennsylvania School of Medicine and a fellow in clinical
medicine in the Department of Medicine. Following two and one-half years on active duty in
the U.S. Naval Medical Corps, he joined the National Institutes of Health (NIH) where he was
Chief of the Developmental and Metabolic Neurology Branch in the National Institute of
Neurological Disorders and Stroke from 1972 to 2006. Dr. Brady received the Lasker
Foundation Award in 1982; the Kovalenko Medal from the National Academy of Sciences USA
in 1991 and the Alpert Foundation Prize from Harvard Medical School in 1992. He received an
honorary Ph.D. degree from the University of Uppsala in 2005. He was awarded the U.S.
Presidential Medal for Science and Technology in 2008. He is a member of the National Academy
of Sciences, USA and the Institute of Medicine of the National Academy of Sciences. Dr.
Brady and his colleagues identified the enzymatic defects in Gaucher disease, Niemann-Pick disease,
Fabry disease and the specific metabolic abnormality in Tay-Sachs disease. He and his associates
developed diagnostic, carrier detection and prenatal tests for these conditions and developed
effective enzyme replacement therapy for patients with Gaucher disease and Fabry disease.
He is currently investigating substrate depletion, molecular chaperone and gene therapy for patients
with metabolic storage disorders.
Dr. Roscoe O. Brady
29
Disclosures:
Consultant, Genzyme Corporation
Topic Summary: “Gaucher Disease Technical”
(a) The origins of glucocerebroside from white and
red blood cells, platelets, various tissues in the body and the brain;
(b)Mechanisms and the consequences of reducing the fomation of such precursor
lipids in various tissues;
(c) Involvement of organs and tissues such as
kidney, heart, lungs, brain and skin in addition to bones, spleen and liver;
(d) What chitotriosidase is, how and why it is produced and its effect on
organs and tissues; and finally (d) How long I think it will take to develop
a cure for Gaucher disease.
Dr. Roscoe O. Brady
We are proud to support the
National Gaucher Foundation in its
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services, support and resources to
those living with Gaucher Disease,
their families and caregivers.
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30
Presentation Information
Neal J. Weinreb, M.D., F.A.C.P.
Date: November 8, 2010
Topic: Gaucher Registry
Time: 11:25-12:15 pm
Neal J. Weinreb, M.D., F.A.C.P.
Titles:
Voluntary Associate Professor of Medicine
Miller School of Medicine
University of Miami
Miami, Florida
Clinical Associate Professor of Medicine (Hematology)
Nova Southeastern College of Osteopathic Medicine
Davie, Florida
Senior Physician
Director, University Gaucher Disease-Fabry Disease-Pompe Disease Treatment Center
Director, University Research Foundation for Lysosomal Storage Diseases, Inc.
Northwest Oncology Hematology Associates, PA.
Coral Springs, Florida
Biography:
Neal J. Weinreb, M.D., F.A.C.P., is Voluntary Associate Professor of Medicine at the University of Miami
Miller School of Medicine in Miami, Florida and Clinical Associate Professor of Medicine
(Hematology) at Nova Southeastern College of Osteopathic Medicine in Davie, Florida. He is also a
Senior Physician and Director of the University Gaucher Disease-Fabry Disease-Pompe Disease
Treatment Center and the University Research Foundation for Lysosomal Storage Diseases at Northwest
Oncology Hematology Associates, PA, in Coral Springs, Florida. After earning his M.D. summa cum
laude from the State University of New York Downstate Medical Center, Dr. Weinreb completed an
internship and a residency in internal medicine at Albert Einstein College of Medicine, followed by a
fellowship in hematology at Mount Sinai School of Medicine. Board Certified in internal medicine,
hematology, medical oncology, and hospice and palliative care, Dr. Weinreb is currently focused on
treating patients with lysosomal storage disorders, specifically Gaucher, Fabry and Pompe diseases. A
leading expert and researcher on Gaucher disease, Dr. Weinreb developed an interest in the disease more
than 40 years ago while working as a young research associate under Dr. Roscoe Brady at the National
Institutes of Health, where he demonstrated that Gaucher disease is a lysosomal storage disorder and
helped formulate some of the purification procedures that eventually led to the production of
Cerezyme®.
Dr. Neal J. Weinreb
31
Dr. Weinreb has presented widely on Gaucher disease in the United States and abroad, and has
published extensively in leading medical journals. He presently serves as Chair of the North American
section of the International Collaborative Gaucher Group (ICGG), the largest cooperative and
observational registry on Gaucher disease, and as Co-Chair of the ICGG International Board of
Scientific Advisors. Dr. Weinreb is also an active participant in the Fabry Registry.
Dr. Weinreb is a member of several medical organizations, including the American Society of
Hematology, American Society of Human Genetics, and Global Organization for Lysosomal Storage
Diseases. He serves on the Ethics Committee of the Florida Society of Clinical Oncology. In 2006, Dr.
Weinreb was recognized for his research accomplishments with the “See the Light” award from the
Matthew Forbes Romer Foundation for children’s genetic diseases of the brain.
Disclosures:
Dr. Weinreb receives research support from Genzyme Corporation (Cambridge, MA) and from Shire
HGT (Lexington, MA). He is on the Speakers’ Bureau and participates in medical advisory boards for
Genzyme Corporation and for Shire HGT, and on the medical advisory board for Protalix/Pfizer. He
receives honoraria from Genzyme for activities related to the ICGG Gaucher Registry.
Topic summary:
The International Collaborative Gaucher Group (ICGG) Gaucher Registry is the largest existing source
of information on Gaucher disease natural history and the effect of disease-specific treatment. Currently,
the Registry data base contains information on nearly 6,000 patients with Gaucher disease from all parts
of the world. For nearly 20 years, through its participating physicians and dedicated staff, the Registry
has successfully implemented its mission: to increase the understanding of Gaucher disease and improve
the lives of those living with this sometimes debilitating disorder. This presentation will review some of
the most important past accomplishments and current projects of the ICGG Gaucher Registry. This
review will set the stage for a detailed description of an “extreme makeover” of the Registry platform
(Registry NXT!) that, among other enhancements, will, for the first time, offer an opportunity for real
time interaction with the Registry not only for participating physicians and other health care providers,
but for individual patients as well. There will also be an opportunity to discuss how best to adapt the
Registry concept to the rapidly evolving multiple choice Gaucher disease treatment environment.
Dr. Neal J. Weinreb
32
Presentation Information
Karen Grinzaid, MS, CGC, CCRC
Date: November 8, 2010
Topic: Regional Gaucher Centers as they relate to the Registry
Time: 1:15-2:15 pm
Karen Grinzaid, MS, CGC, CCRC
Title:
Genetic Counselor, Clinical and Research Coordinator
Jewish Genetic Disease Program Leader
Emory University School of Medicine, Department of Human Genetics
Atlanta, GA
Biography:
Karen is a Board Certified genetic counselor and clinical/research coordinator in the Lysosomal Storage
Disease (LSD) Center at Emory University’s Department of Human Genetics. She has worked in this
specialty area since 1993. Her responsibilities in the LSD Center include coordination of
comprehensive care for patients with lysosomal storage diseases, management of clinical research trials
involving Gaucher disease patients, and operation of a genetics infusion center for enzyme replacement
therapies. She is also involved with planning and hosting of Gaucher patient meetings and other LSD
events. She lectures frequently to the medical and lay communities about diagnosis, evaluation and
treatment of the LSDs. Karen also serves as Program Director for Emory’s Jewish Genetic Disease
Program. In this capacity, she coordinates educational efforts, provides genetic counseling services, and
facilitates laboratory interface with patients and the community. Prior to her involvement with Emory’s
Lysosomal Storage Disease Center and Jewish Genetic Disease Program, Karen provided genetic
counseling services for prenatal, pediatric, newborn screening and several specialty clinic populations at
the University of South Carolina and at Emory. Karen’s educational background includes a B.A. in
Psychology from Northwestern University in Evanston, IL (1982) and an M.S. in Human Genetics from
Sarah Lawrence College in Bronxville, NY (1984). She received her American Board of Medical
Genetics/American Board of Genetic Counseling certification in 1987. She later received her
certification as a Clinical Research Coordinator through the Association of Clinical Research
Professionals in May 2007.
Karen Grinzaid
33
Disclosures:
Supported in part by clinical trial funding from the following companies: Actelion Pharmaceuticals,
Amicus Therapeutics, Genzyme Therapeutics, Protalix Biotherapeutics, and Shire Human Gene
Therapies.
Topic Summary:
Regional Gaucher Centers play an integral role in informing patients about the ICGG Registry,
consenting and enrolling interested patients, coordinating patient care to include appropriate
assessments, and entering accurate data from comprehensive visits. In most regional centers, the
medical team includes a genetic counselor or nurse who coordinates patient care and oversees Registry
activities. This session will address the roles of genetic counselors and other Regional Gaucher Center
team members as they relate to the Registry.
Karen Grinzaid
Children’s Gaucher Research Fund.
A place to turn for help, hope and a commitment to work for better tomorrows.
Our Fund and Our Committment
Children’s Gaucher Research Fund is a 501(c)(3) charitable organization that raises funds to coordinate and
support research to find a cure for Type 2 and Type 3 Gaucher Disease. 100% of your charitable donation goes
to medical research, period. This is a commitment you can count on.
Our mission is to raise funds and unite families to find a cure for Gaucher disease Types 2 and 3 . To date,
CGRF has raised over 1.6 million dollars. 100% of every dollar we receive goes to medical research.
A cure for Gaucher disease Types 2 and 3 may lead to a cure for all lysosomal diseases. Gaucher Disease has
served as a prototype disorder for understanding the molecular basis, pathophysiology and treatment of a class
of inherited metabolic diseases termed “lysosomal storage diseases.” The Children’s Gaucher Research Fund
hopes to continue this cutting-edge position for Gaucher Disease research. Previous and future studies of
Gaucher Disease have had and will have continued impact on a broad range of fields including human genetics,
complex lipid metabolism, novel therapeutic approaches and brain function.
Would you donate a dollar if it could help save one life?
You can help to make hope for a cure a reality by donating to the CGRF today!
Children’s Gaucher Research Fund
P.O. Box 2123, Granite Bay, California 95746-2123,
(916) 797-3700 or cell: 916-996-3700
email: research@childrensgaucher.org . www.childrensgaucher.org
34
Presentation Information
Wayne D. Rosenfield, Ph.D.
Date: November 8, 2010
Topic: Psycho-Social Issues Related to Gaucher disease
Time: 2:15-2:50 pm
Wayne D. Rosenfield, Ph.D.
Biography:
Wayne Rosenfield is a professional psychologist who lives in Norwich, Connecticut. He has worked for
about 33 years in schools, residential facilities, and hospitals. Most of his work has been with people
with developmental disabilities and severe mental disorders. He provides disaster mental health services
for the American Red Cross. He is currently working in the Emergency Departments of two community
hospitals in eastern Connecticut, and is also providing inpatient services at one of those hospitals. He is
the Treasurer for the Radio Amateur Society of Norwich, and was appointed by the City Council to the
newly-formed Norwich Ethics Commission. He is the support group leader for the Yale Gaucher Center,
where he is an occasional lecturer to the second-year students at the Yale School of Medicine. Also at
Yale, he received his first infusions of velaglucerase during the clinical trials, before resuming home
infusions.
Topic Summary:
Dr. Rosenfield will discuss the personality styles that are related to survival of serious illness. There will
be a brief discussion of the effects of thoughts and behaviors upon adaptation to illness. Some examples
will be included for the use of imagery, self-talk, and humor to enhance adaptation to illness. Further
discussion will include the value for the individual of hobbies and social networks. A central theme will
be the framing of illness and disability as an inconvenience rather than an end to productivity and
enjoyment.
35
Presentation Information
Betsy Simon and Rosalie Borovetz
Date: November 8, 2010
Topic: Parenting a child with Gaucher disease / Growing up with Gaucher
Time: 2:50-3:25 pm
Betsy Simon and Rosalie Borovetz
Biography:
Rosalie had not heard of Gaucher until her younger child, Betsy, was diagnosed in 1982. The mother of
two adult children, Rosalie has a Master's Degree in Social Work, with 24 years of experience in
medical and managed care settings. She and her spouse have recently retired in order to spend more
time with family. Rosalie is a Gaucher Disease mentor. Diagnosed at age 3, Betsy has always been
aware that she has Gaucher Disease. Now married to a Rabbi and the mother of two daughters, Betsy
has actively outreached to the Jewish Community about Gaucher Disease and is also a mentor.
Together, this mother-daughter team will explore the multiple experiences of growing up with Gaucher
Disease from a two generational perspective, including discussion of issues around diagnosis, parenting
a child with a chronic genetic disorder, and the challenges of growing up with Gaucher Disease
Topic Summary:
A Mother-Daughter retrospective on the challenges of living and growing up with Gaucher Disease.
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36
Presentation Information
Rhonda P. Buyers
CEO/Executive Director-National Gaucher Foundation
Topic: Healthcare Reform and Insurance
Date: November 8, 2010
Time: 3:25-4:00 pm
Rhonda P. Buyers
Title:
CEO/Executive Director
National Gaucher Foundation
Tucker, GA
Biography:
Rhonda Buyers has worked for the National Gaucher Foundation (NGF) for the past 16 +
years. She began her career as Director of Development and moved on to become its
CEO and Executive Director. Refer to page 1 for more regarding Rhonda P. Buyers’
Biography.
Topic Summary:
A discussion about particular sections of the Health Care Reform Bill as they specifically
relate to the Gaucher community.
37
Presentation Information
Rosina M. Papantonio
Marketing Director-National Gaucher Foundation
Date: November 8, 2010
Topic: Gaucher disease in other countries and issues they
face relative to those in the United States.
Time: 4:00-4:30 pm
Rosina M. Papantonio
Title:
Marketing Director
National Gaucher Foundation
Gulf Breeze, FL
Biography:
Rosina Papantonio has worked for the National Gaucher Foundation (NGF) for the past
11 + years as the NGF’s Marketing Director. Her responsibilities to the Foundation are
anything related to advertising and marketing and education and awareness of Gaucher
disease. Rosina came to the National Gaucher Foundation with a vast background in
advertising and marketing, LAN administration and graphic design.
Her background has provided the experience required for many jobs that were once done
by outside contractors. These include, producing and writing ads, scripts and articles for
the Gaucher Community Newsletter. She also produces many of the NGF flyers,
brochures and internet banners, purchases media and provides marketing proposals and
statistical data vital to tracking performance of campaigns.
Rosina is also the NGF’s website administrator and is responsible for providing all
updates and changes to the webmaster and conceiving, planning and implementing online
events. Her interests also lie in planning, implementing and creating collaterals for many
of the NGF’s events such as golf tournaments, museum exhibits and conferences.
Topic Summary:
How other countries dealt with the drug shortage and what patients experienced during
this time period. The differences between how Gaucher patients and organizations work
together in other countries. Issues they face that may not affect patients and
organizations in the U.S.