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Symposium on Human
Variation:
A
Driver of Personalized Medicine
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Chair/Program
Director
Peter
P. Tolias, PhD, is Executive Director of the Institute of Genomic
Medicine, Research Director of the Autism Center and Professor of Pediatrics
at the UMDNJ-New Jersey Medical School. He is also an Adjunct Professor of Molecular
Genetics, Microbiology & Immunology at the UMDNJ--Robert Wood Johnson Medical
School, and author of over 40 scientific publications and the recipient of over
30 grants, awards and honors. He is the co-founder of several biotechnology
companies and a consulting & capital sourcing firm specializing in the biotechnology
sector. Previously, Dr. Tolias served several years as Worldwide Vice President
of Advanced Research and Technology Assessment, at Ortho-Clinical Diagnostics
- a Johnson & Johnson company - one of the world's largest clinical diagnostic
product development and manufacturing companies, where he was responsible for
Technology Assessment, Discovery Research and Clinical Development of Biomarkers
that support Johnson & Johnson therapeutic products. He has also served
as Executive Vice President of Corporate Development at Rosetta Genomics, a
public biotechnology company advancing multiple internal development programs
in microRNA diagnostics and therapeutics. His role was to develop Global Strategy,
lead Global Business Development and US Operations and assist the company towards
their eventual successful IPO. Earlier in his career, Dr. Tolias was the founder
and Director of the Center for Applied Genomics, an academic R&D center
now part of the Institute of Genomic Medicine, where he led development and
commercialization of seven DNA microarray product-lines. He has also served
as an Associate Professor of Microbiology & Molecular Genetics, UMDNJ-New
Jersey Medical School, an Associate Member of the Public Health Research Institute
and earlier as an Assistant Member. Dr. Tolias obtained his PhD from McGill
University in Canada, was a post-doctoral fellow at Harvard University and has
received Executive training at the Wharton Business School of University of
Pennsylvania. His personal interests include skiing, playing tennis and hockey,
and musical composition and performance.
Keynote
Speaker
Arnold
J. Levine, PhD,
received a B.A. degree from Harpur College, SUNY, in 1961 and a Ph.D.
from the University of Pennsylvania in 1966. His research
centers on the causes of cancer. In 1979, Levine and others discovered the p53
tumor suppressor protein, a molecule that inhibits tumor development. The p53
protein was originally thought to be an oncogene, or tumor accelerator .
Levine was elected to the National Academy of Sciences in 1991 and to its Institute
of Medicine in 1995. He is the author of more than 400 scientific papers and
has received numerous awards and prizes. He now heads The Simons Center for
Systems Biology at the Institute for Advanced Study in Princeton, NJ, and is
a Professor at the UMDNJ Robert Wood Johnson Medical School's Cancer Institute
of New Jersey.
Invited Speakers and Panelists
Stuart
A. Aaronson, MD, is an internationally recognized
physician scientist, who has discovered a number of human oncogenes and the
first normal function of a cancer gene. His discovery of erbB2 as a v-erbB-related
gene amplified in a human breast carcinoma and demonstration of its transforming
properties paved the way for targeted therapies directed against its product.
Molecular diagnostic testing for this amplified gene for all patients with breast
cancer now determines the benefit of this targeted therapy. He also isolated
a growth factor with novel epithelial cell specificity and demonstrated its
involvement in wound repair, leading to its FDA approval as a drug to ameliorate
mucositis, a debilitating side effect of many cancer therapies. Thus, Dr. Aaronson's
discoveries have directly led to new therapies for cancer patients. Dr. Aaronson
received his M.D. from UCSF in 1966. He joined the National Institutes of Health
in 1967 and became Chief of the Laboratory of Cellular and Molecular Biology
at the National Cancer Institute in 1977. He joined Mount Sinai in 1994 as the
Jack and Jane B. Aron Professor and Chairman of the Department of Oncological
Sciences. He is the recipient of numerous awards including the Distinguished
Service Medal from the U.S. Public Health Service, the Rhoads Memorial Award
from the American Association of Cancer Research, and the Paul Erhlich Prize
from Germany. He is the author of over 545 publications, an inventor on more
than 50 patents, and serves on numerous editorial boards and scientific advisory
committees.
Edward
Abrahams, PhD, Executive Director of the Personalized Medicine
Coalition, a non-profit educational and advocacy group representing diverse
members with an interest in advancing medical progress through the adoption
of personalized medicine concepts and products, brings extensive experience
in industry, academia, and government to the position. As former Executive Director
of the Pennsylvania Biotechnology Association, Dr. Abrahams managed all aspects
of the Association, including public advocacy, media relations, and educational
programs, tripling its size and revenues in three years. He also spearheaded
the successful effort that led to the Commonwealth of Pennsylvania's investment
of $200 million to commercialize biotechnology in that state. Previously, Dr.
Abrahams had been Assistant Vice President for Federal Relations at the University
of Pennsylvania, and also held a senior administrative position at Brown University.
Before becoming a university administrator, Dr. Abrahams worked seven years
for the United States Congress, including as a legislative assistant to Senator
Lloyd Bentsen and as an economist for the Joint Economic Committee under the
chairmanship of Congressman Lee Hamilton. He is a senior editor of Personalized
Medicine.
Raymond
B. Birge, PhD, is
an Associate Professor of Biochemistry and Molecular Biology at the University
of Medicine and Dentistry of New Jersey-New Jersey Medical School in Newark
NJ. He received a BS degree from the University of Connecticut in 1984, and
a PhD in Biochemical Toxicology from the University of Connecticut in 1989.
Dr. Birge did his postdoctoral training at The Rockefeller University with Professor
Hidesaburo Hanafusa (1990-1994) and was Assistant Professor in the Laboratory
of Molecular Oncology at Rockefeller University (1994-1998) and acting head
of the same laboratory from 1998-2000. In 2000, Dr. Birge moved to the UMDNJ-New
Jersey Medical and maintains his current position of Associate Professor and
Head of Laboratory. Dr. Birge has served on numerous federal and private study
sections (including NIH, NSF, DOD, and Alzheimer's Association) and is currently
on the editorial board of The Journal of Biological Chemistry and Cell Communication
and Signaling. Dr. Birge is the founding officer (with Richard Lockshin and
Zahra Zakeri) of the Cell Death Society and previously Vice-President of the
International Cell Death Society. Dr. Birge's primary research interests explore
the cell biology involved in the recognition, immune modulation, and clearance
of apoptotic cells as well as to elucidate the structure and function of the
Crk and Crk L family of proto-oncogene proteins.
Linda
M. Brzustowicz, MD, a psychiatrist and molecular geneticist,
runs the Psychiatric Genetics Laboratory at Rutgers University. Dr. Brzustowicz
received her undergraduate degree from Harvard University and her medical degree
from Columbia University. After completing a psychiatry residency program and
postdoctoral training in molecular genetics at Columbia University she joined
the faculty of Rutgers in 1994. Her research focuses on identifying and understanding
genetic factors that increase an individual's risk for developing psychiatric
illness. Her laboratory currently studies schizophrenia, bipolar disorder,
and autism. Work by her group spans a range of activities including recruitment
and assessment of human subjects, development of definitions of illness for
genetic studies, DNA sequence analysis for linkage and association studies,
comparative genomic analysis, and gene expression studies. She
has authored over 60 peer-reviewed publications in the areas of psychiatric
and genetics and she is the principal investigator on four current NIMH R01
awards on the genetics of schizophrenia, bipolar disorder and autism.
Randy
Burkholder, is Associate
Vice President of Policy at the Pharmaceutical Research and Manufacturers of
America. In this position he develops and advocates for policies that support
patient access and medical innovation while addressing the challenges of rising
health care costs and sub-optimal health care quality. Mr. Burkholder guides
PhRMA work on issues related to use of evidence in healthcare decision-making,
health technology assessment, health outcomes research and Medicare coverage
policy. He lead development and adoption of PhRMA's principles on government
health outcomes research and evidence-based medicine, and its position on comparative
effectiveness research. He also oversees work to advance public awareness and
public policy in support of pharmaceutical innovation and personalized medicine.
Mr. Burkholder has presented before the Medicare Evidence Development and Coverage
Advisory Committee and President's Council of Advisors on Science and Technology.
He has over 15 years experience in health care policy, advocacy and communications
in the medical device and pharmaceutical industries. Prior to joining PhRMA,
Mr. Burkholder was Associate Vice President for Public Affairs at AdvaMed, the
leading association of the medical device and diagnostics industries.
Mr. Burkholder is a founding member of the Board of Directors of the Personalized
Medicine Coalition, for which he serves as Chair of the Communications Committee.
Michael
F. Christman, PhD, was appointed as President and Chief Executive
Officer of the Coriell Institute for Medical Research, effective June 1, 2007.
In the last year he has initiated the Coriell Personalized Medicine Collaborative,
a major research study designed to take an evidence-based approach to determining
the utility of using genome information in the clinic. Dr. Christman is an expert
in genetics and genomics and most recently served as professor and founding
chair of the Department of Genetics and Genomics for Boston University School
of Medicine. He has also served as associate professor, Department of Microbiology,
University of Virginia; Assistant professor, University of California at San
Francisco, Department of Radiation Oncology; and was a Jane Coffin Childs postdoctoral
fellow at M.I.T. Dr. Christman received his bachelor's degree in chemistry with
honors from the University of North Carolina, Chapel Hill in 1981 and a doctorate
in biochemistry from the University of California, Berkeley in 1985.
Nadine
Cohen, PhD, was trained as a pharmacist in France and received
her Ph.D. in Immunogenetics in 1986 from the Hebrew University in Jerusalem.
She was a post-doctorate fellow at Stanford University until 1989, and after
heading the genetic screening laboratory at the Foundation Jean Dausset-Human
Polymorphism Study Center in Paris, she was an Assistant Professor from 1995-2001
at the Technion Bruce Rappaport Faculty of Medicine in Haifa (Israel). She joined
the Jansen Research Foundation in August 1999 to establish a Pharmacogenomics
program. She is currently Head of the Pharmacogenomics Team at the Johnson and
Johnson Pharmaceutical Research and Development (Raritan, NJ, USA). She has
published more than 60 scientific papers in the area of immunogenetics and human
molecular genetics. Nadine Cohen has been the chair of the industry Pharmacogenomics
Working Group from 2006-2008, and represents Johnson and Johnson on various
external organizations engaged in Pharmacogenomics and Personalized Medicine.
Nadine Cohen is also the editor of the book �Pharmacogenomics and Personalized
Medicine�, that was recently published by Springer-Human Press.
Gregory
J. Downing, DO, PhD, was appointed in
March 2006 as Program Director for the United States Department of Health and
Human Services (HHS) Secretary Michael O. Leavitt's priority initiative for
Personalized Medicine. In this role, he coordinates trans-HHS agency programs
for the analysis, planning and implementation of policies and systems to facilitate
adoption of Personalized Health Care practices. Prior to his move to HHS, Dr.
Downing served at the National Institutes of Health since 1993 in research,
policy, and program management roles. Dr. Downing earned his medical degree
from Michigan State University and his PhD in pharmacology from the University
of Kansas . He completed his residency in pediatrics and fellowship in neonatology
before joining the faculty of the University of Missouri-Kansas City in the
Department of Neonatology at The Children's Mercy Hospital . Dr. Downing is
certified by the American Board of Pediatrics in pediatrics and neonatology
- perinatal medicine.
Daniel
H. Fine, DMD, is currently a Professor and
Chairman of the Department of Oral Biology and Director of the Center for Oral
Infectious Diseases. He received his Bachelor of Science degree from Queens
College, his DMD from the University of Pennsylvania in 1965 and his Certificate
in Periodontology in 1967 from New York University. He served on the dental
faculties of the University of Pittsburgh (1967-1970) and the Columbia University
School of Dental and Oral Surgery (1971-1994) before coming to the New Jersey
Dental School in mid-1994 as Director of the Dental Research Center. Dr. Fine's
research focuses on host/parasite interactions in periodontal disease with a
special emphasis on molecular genetics related to virulence of actinobacillus
actinomycetemcomitans. His group also investigates genetic susceptibility of
individuals to juvenile periodontitis. In addition, Dr. Fine's laboratory participates
in studies of biofilm development and methods that would interfere with development.
Thomas
J. Hudson, MD,
was awarded an MD by the Université
de Montréal in Montreal in 1985 and completed residencies in Internal
Medicine and Clinical Immunology and Allergy in Montreal. He completed postdoctoral
fellowships at the McGill Centre for the Study of Host Resistance in
Montreal and at the Center for Cancer Research at the Massachusetts Institute
of Technology (MIT) in Cambridge, Massachusetts. He did concurrent work with
Dr. Eric Lander at the Center for Genome Research at MIT. In 1993, Dr.
Hudson joined the Whitehead Institute for Biological Research at the MIT Center
for Genome Research as a Research Scientist, becoming Assistant Director in
1995. He was appointed Director of the Montreal Genome Centre in 1999 and Associate
Director of the Canadian Genetic Diseases Network in Montreal in 2001. He became
the Director of the McGill University and Génome Québec Innovation
Centre in 2003 and is currently the Founder and Scientific Director of the Public
Population Project in Genomics, (P3G) in Montreal . Dr. Hudson was appointed
President and Scientific Director, Ontario Institute for Cancer Research, Toronto,
in 2006, where he is recruiting 50 principal investigators to conduct research
in the prevention, targets and therapeutics for cancer.
James
L. Kennedy, MD, FRCP(C), was
trained in psychology and biology as an undergraduate at York University in
Toronto, and then completed his MS degree in neurochemistry at York. He attended
medical school in Calgary, Alberta, Canada and then went to Yale University
for specialty training in psychiatry. After completing his psychiatry residency
in 1989, he engaged in postdoctoral research in Human Genetics at Yale, until
1991. He then returned to his native Canada to take the position of Head, Section
of Neurogenetics, at the Centre for Addiction and Mental Health. He is also
I'Anson Professor of Psychiatry at the University of Toronto, Director of the
Department of Neuroscience Research at the Centre for Addiction and Mental Health,
and a member of numerous professional societies including the American Board
of Psychiatry and Neurology, American Society of Human Genetics, National Alliance
for Research in Schizophrenia and Affective Disorder, and a Fellow of the Royal
College of Physicians in Canada. He is co-organizer of the annual Pharmacogenetics
in Psychiatry conference, held in New York City, now in its fourth year. Dr.
Kennedy has published more than 300 scientific articles, and he is an active
lecturer at numerous international conferences. His research program is dedicated
to finding genes involved in the cause of mental illness. He has published pioneering
findings relating gene variants in the dopamine, serotonin, and neurodevelopment
systems to psychiatric disorders, and to treatment response. He has also led
important investigations of unstable DNA mutation in mental illness. He has
three patents awarded and three patents submitted, in the areas of genetic prediction
of disease risk, medication response, and side effects. Dr. Kennedy has been
mentor to over 25 postdoctoral fellows, 10 graduate students, and numerous other
undergraduate students. In aggregate, his trainees have been awarded more than
$1,000,000 in competitive fellowships or studentships, and many have progressed
to hold senior scientific positions in academic and industrial settings. He
also holds a prestigious $300,000 Ciba-Geigy award for lifetime mentoring in
molecular genetics. Currently he is applying molecular genetic technology to
the study of problem gambling, schizophrenia, manic depression, addictions and
impulse control disorders. In addition, he is investigating genetic factors
that may predict response and side effects to psychiatric medications (pharmacogenetics).
A more recent area of interest is the integration of molecular genetics and
neuroimaging as a combination approach to better understand brain structure
and function.
Mark
A. Labow, PhD, joined Novartis (now the Novartis Institutes
for Biomedical Research) in 1998. His group developed a platform of industrialized
biology approaches allowing for the systematic analysis of gene function in
mammalian cells using genome-scale gain of function and loss of function approaches.
He is part of the Developmental and Molecular Pathways Department which is dedicated
to the identification of novel disease gene relationships and technology applications
that can reliably identify therapeutic strategies for unmet medical needs. Prior
to joining Novartis, Mark worked at Hoffmann La-Roche where he started a new
technologies group and led drug discovery efforts in oncology and inflammation.
He received his Ph.D. in the field of molecular virology working for Dr. K.I.
Berns at the University of Florida and Cornell Medical College. He did his post-doctoral
work in the laboratory of Dr. Arnold Levine where he developed inducible expression
systems for use in tissue culture and transgenic animals. He is currently Director
of the Pathway Biology Unit, Developmental and Molecular Pathways Department
at Novartis Institute for Biomedical Research in Cambridge MA.
James
R. Lupski, MD, PhD, received his initial scientific training
at the Cold Spring Harbor Laboratory as an Undergraduate Research Participant
(URP) and at New York University completing the M.D./Ph.D. program in 1985.
In 1986 he moved to Houston , Texas for clinical training in pediatrics (1986-1989)
and medical genetics (1989-1992) and then established his own laboratory at
Baylor College of Medicine where he remains, and as of 1995, as the Cullen Professor
of Molecular and Human Genetics. His laboratory determines molecular mechanisms
for disease using molecular biological, genomic, and human genetic approaches
to investigate clinical phenotypes. Through studies of Charcot-Marie-Tooth peripheral
neuropathy, a common autosomal dominant trait due to a submicroscopic 1.5 Mb
duplication, and Smith-Magenis syndrome, a contiguous gene deletion syndrome,
his laboratory has delineated the concept of �genomic disorders� and established
the critical role of gene dosage in conveying human disease phenotypes. An increasing
number of human diseases are recognized to result from recurrent DNA rearrangements
(recent examples include both autism and schizophrenia) involving unstable genomic
regions and have thus been classified as genomic disorders. Rearrangements of
our genome have also recently been recognized as a major source of genome variation.
The significance of such gene copy number variants (CNVs) to human traits (including
behavioral traits), susceptibility to disease, and species evolution remains
to be elucidated. Dr. Lupski's laboratory has also developed mouse models for
genomic disorders. The Lupski laboratory has also collaborated with Dr. Richard
A. Lewis to elucidate the molecular mechanisms of eye disease. These studies
resulted in the isolation of the first gene for an inherited macular dystrophy,
ABCA4 responsible for recessive Stargardt disease, elucidated the concept
of triallelic inheritance for Bardet-Biedl syndrome, whose clinical manifestations
include retinitis pigmentosa, and provided evidence for genetic modifiers of
primary congential glaucoma due to CYP1B1 mutations. He recently completed
(2004-2005) a sabbatical at the Wellcome Trust Sanger Institute in Cambridge
, England in the laboratory of Allan Bradley studying mouse genetics and genomics.
Dr. Lupski assumed the role of Vice Chairman in 2006 with primary responsibilities
for the further development and further clinical implementation of molecular
diagnostics with a particular focus on high resolution analysis of the human
genome to link structural variants of the genome with clinical phenotypes.
Francis
J. McMahon, MD, received a BA in Biology from the University
of Pennsylvania in 1982 and an MD from The Johns Hopkins University School of
Medicine in 1987. He stayed at Hopkins to complete a medical internship, a residency
in adult psychiatry, and a post-doctoral fellowship in genetics. He became an
Assistant Professor of Psychiatry at Hopkins in 1993, and an Associate Professor
in 1997. In 1998, he moved to the University of Chicago , where he continued
his research while serving as Medical Director of the electroconvulsive therapy
clinic. In 2002, he joined the Mood and Anxiety Disorders Program of the NIMH
Intramural Research Program as Chief of its genetics unit. He is also a member
of the part-time faculty at the Johns Hopkins Department of Psychiatry. Dr.
McMahon sits on the board of the International Society of Psychiatric Genetics,
the editorial boards of Biological Psychiatry and International Review of Psychiatry,
and serves as a scientific advisor for the Tourette Syndrome Association, the
American Society for the Prevention of Suicide, Autism Speaks, and the Rutgers
University Cell & DNA Repository. He has received awards for his work from
NARSAD, NAMI, NIMH, and The Edward F. Mallinckrodt Foundation, and was recently
recognized with an NIH Director's Award for Significant Achievement. He has
authored numerous scientific reports and textbook chapters.
Mark
Mintz, MD, attended medical school at the University of Medicine
and Dentistry of New Jersey (UMDNJ)-Robert Wood Johnson Medical School, performed
his pediatric residency training at the Albert Einstein College of Medicine/Montefiore
Medical Center, and completed a Pediatric Neurology fellowship at UMDNJ-New
Jersey Medical School. He is triple-Board Certified in Child Neurology, Pediatrics
and Neurodevelopmental Disabilities. Dr. Mintz is Founder and President &
CEO of The Center for Neurological and Neurodevelopmental Health and the Clinical
Research Center of New Jersey located in Voorhees, NJ. Dr. Mintz is widely published
in the medical literature, and has been an invited lecturer at a number of national
and international conferences, with a focus on Neurobehavioral and Neurodevelopmental
Disorders, Epilepsy, Brain Injury, and NeuroAIDS. Dr. Mintz functions as the
Principle Investigator on a variety of clinical drug trials, has been the Protocol
Neurologist for a number of national Pediatric AIDS Clinical Trials, and has
participated on an array of committees and task forces of the National Institutes
of Health and the New Jersey Governor's office. Additionally, Dr. Mintz has
served in the National Health Service Corps of the United States Public Health
Service, and has volunteered for medical relief missions in Romania and Russia.
Randall
W. Nelson, PhD, has focused his career primarily
on the development of mass spectrometric technologies and methods for the characterization
of biomolecules residing in various biological milieu. In 1986 he received his
BS in Chemistry from Eastern Oregon State College ( LaGrande, OR ), and in 1990
received his PhD in Chemistry from Arizona State University (Tempe, AZ), where,
under the mentorship of Professor Peter Williams , his thesis topic was the
development of laser desorption/ionization approaches from frozen aqueous media
for the mass spectrometry of DNA. From 1990 to 1993, Dr. Nelson occupied the
roles of Senior Research Scientist and Product Manager at Vestec Corporation
(Houston, TX, subsequently bought by Applied Biosystems, Inc.), where he oversaw
the development of the world's first commercial line of MALDI-TOF mass spectrometers.
From 1994 to 1997, he returned to the Department of Chemistry & Biochemistry
at ASU as an Academic Professional/Visiting Assistant Professor. During this
time, he developed a number of proprietary methods and devices for the detailed
analysis of proteins from biological fluids. These technologies include mass
spectrometric immunoassay (MSIA), bioreactive mass spectrometer targets (BRP)
and surface plasmon resonance mass spectrometry (SPR-MS). From 1997 to 2006,
Dr. Nelson undertook the roles of President and CEO of Intrinsic Bioprobes,
Inc. (Tempe, AZ), which he co-founded to commercialize these technologies. Currently,
Dr. Nelson is Director of the Molecular Biosignatures Analysis Unit within The
Biodesign Institute at Arizona State University , where he also holds the position
of Research Professor and Affiliate Professorship in the Department of Chemistry
& Biochemistry. One of the objectives of the MBAU/BDI is to apply the novel
proteomics and mass spectrometric technologies and methodologies to the study
and understanding of diseases the human populations. Dr. Nelson has published
over 100 peer-reviewed manuscripts regarding biological mass spectrometry and
proteomics, and is inventor or co-inventor on 30 issued and approximately 20
pending patents covering mass spectrometric technologies and methods.
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