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Saturday, April 29
8:00am–11:00am
2100—Adult Stem Cells—A Primer for the
Clinician
PAS/ASPHO Mini Course
Room 3014, Moscone West
Chairs: Jakub Tolar, University of Minnesota, Minneapolis, MN; and
Mervin C. Yoder, Jr., Indiana University School of Medicine,
Indianapolis, IN
Target Audience:
Hematologists/oncologists, endocrinologists, basic scientists
and neurologists.
Adult stem cells represent a
technology that is being intensively investigated currently,
and this research may have wide implications for human health.
This mini course will focus on recent research and potential
applications in human health.
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Introduction
Jakub Tolar, University of Minnesota, Minneapolis, MN
Mervin C. Yoder, Indiana
University School of Medicine, Indianapolis, IN
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Multipotent Adult Progenitor
Cell: Hype or Reality?
Catherine M. Verfaillie, University of Minnesota, Minneapolis, MN
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Mesenchymal Stem Cell: Harnessing
the Power of Adult Stem Cells To Repair Tissues
Darwin Prockop, Tulane University Health Science Center, New Orleans,
LA
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Hierarchy of Endothelial
Progenitors in Human Blood and Blood Vessels
David A. Ingram, Indiana University School of Medicine, Indianapolis,
IN
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Cancer Stem Cell: Concept of
Human Leukemic Development
Craig T. Jordan, James P. Wilmot Cancer Center, University of Rochester
School of Medicine, Rochester, NY
Sponsored jointly by
the American Society of Pediatric Hematology/Oncology and the
Pediatric Academic Societies
8:00am–11:00am
2115—Genetics and the Pediatric Medical
Educator: What We Need To Know and How Can We Teach It
PAS Mini Course
Room 2006, Moscone West
Chairs: Joseph Gigante, Vanderbilt Children's Hospital, Nashville, TN;
and Marilyn C. Dumont-Driscoll, University of Florida College
of Medicine, Gainesville, FL
Target Audience: Medical
educators, general pediatricians and anyone who would like to
learn more about how genetics affects primary care.
There have been rapid advances in
knowledge and technology in the field of genetics. General
pediatricians have become the first line of information and
counseling for patients and families seeking to understand the
unique role of genetics in their overall medical care. Yet
genetics has played a relatively small part in the medical
school curriculum, and the emerging gap in physician knowledge
has created an enormous need for education in a previously
underemphasized area of medical education. Genetic medicine
also raises some of the most subtle medical, psychosocial,
cultural and bioethical dilemmas faced by primary care
pediatricians and their patients.
This mini course is designed to
help participants understand and incorporate genetics in their
patient encounters, as well as enhance their comfort in
teaching genetics. Using a collaborative faculty presentation,
basic genetic concepts, core competencies and new paradigms
will be discussed. Strategies for incorporating genetics into
primary care practice and teaching genetics will include case
presentations; “missed opportunities,” where genetics
impacts a patient and pediatrician; and interactive
educational games that can be used at the participant’s own
site. Resources, such as internet sites that contain current
genetic information, will be distributed and discussed.
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Ethical, Legal, Social and
Cultural Issues and Genetics
Joseph Gigante, Vanderbilt Children's Hospital, Nashville, TN
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Using the Family History To Focus
Anticipatory Guidelines and Screening at Health
Maintenance Visits
Marilyn C. Dumont-Driscoll, University of Florida College of Medicine,
Gainesville, FL
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Genetic Tests for the
Pediatrician: What, When, How and Why
Daniel J. Driscoll, University of Florida College of Medicine,
Gainesville, FL
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Hearing Loss: Resources for
Genetic Information
Teri Lee Turner, Baylor College of Medicine, Houston, TX
8:00am–11:00am
2130—Newborn Hearing Screening: From the
Bedside to Beyond
PAS/PIDS Mini Course
Room 3010, Moscone West
Chairs: Mark R. Schleiss and Lisa Ann Schimmenti, University of
Minnesota Medical School, Minneapolis, MN
Target Audience: General
pediatricians, geneticists and infectious disease specialists.
Sensorineural hearing loss (SNHL)
in infants is the most common birth defect, and early
detection improves outcome. Evidence from the CDC reveals that
less than one half of screened babies are followed up. One
possible reason is the low positive predictive value of
bedside screening. There is a critical need to augment current
strategies to prevent late diagnosis of SNHL. One solution is
to propose second-tier testing for the most common causes of
SNHL, as the most common causes of newborn hearing loss are
infectious and genetic. Of infectious causes, cytomegalovirus
(CMV) is the most common. Evidence of CMV infection can be
found in 1% of newborns, with 10–15% developing hearing loss
or other CNS abnormalities. Of the genetic causes, mutations
in GJB2/GJB6 are the most common and are identified in up to
one half of individuals with SNHL. The goal of this program
will be to examine evidence for inclusion of infectious and
genetic screening to augment current newborn screening
protocols.
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Diagnostic Evaluation and
Management of Childhood Hearing Loss
Margaret Alene Kenna, Children's Hospital Boston, Boston, MA
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Range of Mutations in
GJB2-Associated Hearing Loss
Lisa Ann Schimmenti, University of Minnesota Medical School,
Minneapolis, MN
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Congenital Cytomegalovirus
Infection and Hearing Loss
Karen B. Fowler, University of Alabama at Birmingham, Birmingham, AL
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Newborn Hearing Screening:
Audiologic Assessment
Yvonne Sininger, University of California Los Angeles, Los Angeles, CA
Sponsored jointly by
the Pediatric Infectious Diseases Society and the Pediatric
Academic Societies
8:00am–12:00pm
2180A—LWPES Plenary Session I
LWPES Plenary Session
Room 3007-3009, Moscone West
Chairs: Lynne Levitsky, Massachusetts General Hospital, Boston, MA;
Henry Anhalt, Saint Barnabas Medical Center, Livingston, NJ;
and Alan D. Rogol, University of Virginia, Charlottesville, VA
Target Audience:
Endocrinologists, nephrologists, cardiologists, general
pediatricians, immunologists, geneticists and molecular
biologists.
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Opening Remarks
Lynne L. Levitsky, Massachusetts General Hospital, Boston, MA
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Lawson Wilkins Lecture:
Recent years have witnessed a
significant revision of the traditional view of fat cells
as simple stores of excess energy. Studies in the
speaker's lab as well as many others have clearly
demonstrated that adipocytes produce and regulate many
metabolic and hormonal signals, which generate profound
effects on systemic endocrine equilibrium. In his earlier
studies, he also demonstrated that these cells exhibit an
inflammatory capacity that is abnormal in obesity and key
to the pathogenesis of insulin resistance and diabetes.
Recently, he identified a key molecular mechanism
underlying the link between inflammatory responses and
insulin action. This pathway involves obesity-related
activation of the serine, threonine kinase, JNK, and the
consequent inhibition of insulin receptor signaling via
phosphorylation of a substrate of insulin receptor, IRS-1.
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Integration of Metabolic and
Inflammatory Pathways in Metabolic Disease
Gokhan S. Hotamisligil, Harvard School of Public Health, Boston, MA
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Robert Blizzard Lecture:
One of the greatest questions
asked of physicians caring for children with autoimmune
diabetes is "why did this happen?" This session
will unravel some of the mysteries surrounding the
etiology and pathogenesis of autoimmune diabetes from an
investigator who has dedicated his life to this issue.
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Molecular Mechanisms and Defects
in Growth Hormone Receptor Signaling
Peter Rotwein, Oregon Health and Science University, Portland, OR
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Break
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Esoterix Lecture:
The attendee will familiarize him/herself with newer
molecular mechanisms of growth failure that are due to
abnormalities in receptor and post-receptor translation of
GH signaling.
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On the Unravelling of the
Etiopathogenesis of Type 1 Diabetes: Are We Stuck or
Are We Winning?
Gian Franco Bottazzo, Ospedale Pediatrico Bambino Gesú, Scientific
Institute, Rome, Italy
12:00pm–3:00pm
2505—Embryonic Stem Cells: A Primer for
Clinicians
PAS Mini Course
Room 3014, Moscone West
Chair: Michael T. Longaker, Stanford University, Stanford, CA
Embryonic stem cells offer
incredible promise for treating diseases affecting both
children and adults. This mini course will provide an overview
of stem cells and a basic understanding of how to derive human
embryonic stem cells, recent research and ethical
considerations. After attending this session, attendee will
have a better understanding of: 1) what are embryonic stem
cells; 2) how human embryonic stem cells are derived; 3)
recent progress in human embryonic stem cell research; 4)
ethical considerations in human embryonic stem cells.
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Stem Cells: Embryonic, Adult and
Cancer
Michael T. Longaker, Stanford University, Stanford, CA
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What It Takes Clinically To Get
an Embryonic Stem Cell
Linda C. Giudice, University of California, San Francisco, San
Francisco, CA
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What Can You Do with an Embryonic
Stem Cell in Research
Renee Reijo Pera, University of California, San Francisco, San
Francisco, CA
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Ethical and Oversight
Considerations in Human Embryonic Stem Cell Research
Hank Greely, Stanford University, Stanford, CA
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Panel Discussion
Supported in part by an unrestricted educational grant from
Treuman Katz Center for Pediatric Bioethics - Seattle
Children's Hospital
12:00pm–3:00pm
2510—Inherited Disorders Caused by
Inappropriate Apoptosis
PAS Mini Course
Room 3010, Moscone West
Chairs: Cynthia J. Tifft, Children's National Medical Center,
Washington, DC; and Hans Andersson, Tulane University Medical
Center, New Orleans, LA
Target Audience: Pediatric
researchers interested in genetic basis of disease and
apoptosis.
This session will describe the
recent findings of the role of apoptosis in the pathogenesis
of genetic diseases. Inappropriate apoptosis and acquired
resistance to apoptosis are important mechanisms in some
genetic disorders and a better understanding of this role is
expected to lead to potential therapies.
Inappropriate apoptosis has been
implicated in the causation of several inherited disorders
with specific interest for pediatricians. The pathophysiology
of inherited neurodegenerative disorders have long eluded
explanation and recent studies suggest that storage of
abnormal compounds in lysosomes act as a trigger for
apoptosis. Additionally, nephropathic cystinosis has recently
been shown to be caused by inappropriate onset of apoptosis
caused by abnormal cystinylation. This session will provide a
clinical perspective on the role of apoptosis in genetic
disorders affecting the pediatric population.
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Overview
Hans C. Andersson, Tulane University Medical School, New Orleans, LA
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Microglial Activation and
Inflammation Precedes Apoptosis in Tay-Sachs Disease
Cynthia J. Tifft, Children's National Medical Center, Washington, DC
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Lysosomal Cystine Enhances
Apoptosis and Yields the Nephropathic Cystinotic Phenotype
Jess G. Thoene, Tulane University School of Medicine, New Orleans, LA
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Niemann Pick Disease, Type C:
Glycolipid Gridlock and Apoptosis
Marc C. Patterson, Columbia University Medical Center, New York, NY
- Role of GM1-Ganglioside
in ER-and Mitochondrial-Mediated Neuronal Apoptosis
Alessandra
D'Azzo, St. Jude Children’s Research Hospital, Memphis,
TN
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Discussion
12:00pm–3:00pm
2515—New Insights into the Pathogenesis and
Treatment of Asthma
PAS Mini Course
Room 3012, Moscone West
Chair: Ellen F. Crain, Albert Einstein College of Medicine, Jacobi
Medical Center, Bronx, NY
Target Audience: General
pediatricians, pulmonary medicine, genetics and allergists.
This mini course will highlight
new advances and developments in our understanding of
pediatric asthma and its treatment. Leading investigators will
present new information on the pharmacogenomics of asthma, the
roles of early environmental factors in the development of
asthma, advances in drug therapy, understanding of mechanisms
underlying the pathophysiology of asthma and insights into the
application of these advances to the care of children with
asthma.
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Role of Pharmacogenomics in
Asthma Management
Michael Ephraim Wechsler, Harvard Medical School, Brigham and Women's
Hospital, Boston, MA
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Early Environmental Factors in
the Development of Asthma
Fernando D. Martinez, Arizona Respiratory Center, The University of
Arizona, Tucson, AZ
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Advances in Drug Treatment of
Asthma
Stanley J. Szefler, National Jewish Medical and Research Center,
University of Colorado Health Sciences Center, Denver, CO
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Pathophysiology of Childhood
Asthma: Search for Mechanisms
Giuseppe N. Colasurdo, University of Texas-Houston Medical School,
Houston, TX
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Epidemiology and Outcomes in
Asthma
Peter J. Gergen, National Institute of Allergy and Infectious Diseases
(NIAID), Bethesda, MD
1:00pm–3:00pm
2610—Genetics and Epigenetics of Neonatal
Disease
PAS Platform Session
Room 3022, Moscone West
Chairs: Aaron Hamvas and Jeffrey C. Murray
1:30pm–3:30pm
2675A—Controversies in the Management of
Non-classical Congenital Adrenal Hyperplasia
LWPES Workshop
Room 3000, Moscone West
Chairs: Perrin White, University of Texas Southwestern Medical Center,
Dallas, TX; and Ieuan Hughes, University of Cambridge,
Cambridge, UK
Target Audience: Neonatologists,
endocrinologists, generalists and adolescent medicine
specialists.
Non-classical adrenal hyperplasia
(NCAH) occurs more commonly than does the classical form and
may masquerade as hirsutism, acne and menstrual cycle
dysfunction. NCAH must be considered in the differential
diagnosis of these relatively common conditions. The diagnosis
of NCAH is being made more frequently today as a result of
greater access to genotyping available through many commercial
laboratories. Once the diagnosis is made, however, the
controversies begin. Who should have stress-dose
glucocorticoids and who should have prenatal screening are
some of the controversial issues.
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Glucocorticoid Coverage and
Treatment in Non-classical Adrenal Hyperplasia
Mitchell E. Geffner, Children's Hospital Los Angeles, Los Angeles, CA
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Role or No Role of Prenatal
Diagnosis and Newborn Screening in Non-classical Adrenal
Hyperplasia
Patricia A. Donohoue, The Children's Hospital of Iowa at the University
of Iowa Hospitals and Clinics, Iowa City, IA
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Fertility in Patients with
Non-classical Adrenal Hyperplasia
Marcelle Cedars, University of California-San Francisco, San Francisco,
CA
2:15pm–5:15pm
2700—Educating Pediatric Fellows in a
Competency-Based World
PAS/APPD Mini Course
Room 2007, Moscone West
Chairs: Susan Guralnick, Stony Brook University Medical Center, Stony
Brook, NY; and Joseph Gilhooly, Oregon Health and Science
University, Portland, OR
Target Audience: Attendees
involved with fellowship programs.
Competency-based education is now
the standard for residency education. Residency programs have
integrated the ACGME Core Competencies into their curricula
and assessment methods. It is now time for fellowships to
enter the “competency” arena, and there is much to be
accomplished. This program will focus on several areas of
fellowship education including: the new RRC common
requirements for subspecialty training, development of a
competency-based fellowship curriculum, competency-based
assessment tools, and pediatric subspecialty fellows as
teachers. Attendees are encouraged to bring tools and ideas
for discussion and development. Attendees should leave with
useful materials to bring back to their home programs.
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Overview
Susan Guralnick, Stony Brook University Medical Center, Stony Brook, NY
Joseph Gilhooly, Oregon Health
& Science University, Portland, OR
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A Brave New World! New Common
Requirements for Subspecialty Training—Implementing the
Competencies
Carol Carraccio, Professor of Pediatrics and Associate Chair for
Education, University of Maryland School of Medicine,
Baltimore, MD
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"Survivor ACGME"—Fellowship
Competencies in Action
Joseph Gilhooly, Oregon Health & Science University, Portland, OR
John D. Mahan, Children’s
Hospital, The Ohio State University, Columbus, OH
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Turning to Fellows as Teachers:
From Curricula to Evaluation
Nancy D. Spector, St. Christopher's Hospital for Children,
Philadelphia, PA
Susan Guralnick, Stony Brook
University Medical Center, Stony Brook, NY
Sponsored jointly by
the Association of Pediatric Program Directors and the
Pediatric Academic Societies
Supported by an unrestricted educational grant from Dey,
L.P.
3:15pm–5:15pm
2720—Advances in Autism: One Step Forward
and One Step Back
PAS Topic Symposium
Room 3020, Moscone West
Chairs: Catherine E. Lord and Faye S. Silverstein, University of
Michigan, Ann Arbor, MI
Target Audience: Pediatricians
and other physicians and professionals who see children and
adolescents within their practices and researchers interested
in general summaries of the most recent advances in scientific
approaches to autism.
Dr. Lord is a developmental
psychologist with clinical and research expertise in the
diagnosis and treatment of autism spectrum disorders (ASD).
She chaired the National Academy of Science’s Early
Intervention in Autism Committee. She is best known for her
longitudinal studies of children and adults with autism and
the development of the standard autism diagnostic measures.
She has recruited a group of researchers with expertise
ranging from epidemiology to innovative clinical projects for
this symposium. The speakers will present recent findings and
discuss advances and controversies from a variety of fields
relevant to ASD and pediatrics. New prevalence studies from
the United States and other countries, epidemiological studies
of autism and vaccine use and current medical treatments will
be discussed, as well as practical ways of working with
parents interested in alternative therapies and skeptical
about conventional medicine. The role of early screening and
identification of ASD in infants and toddlers will be raised,
with particular attention to the ethics of research and
practice in this area. A summary of genetic findings will be
integrated with a discussion of methods of diagnosis and the
most recent empirically based studies of behavioral and
educational treatments.
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Back from Diagnosis to Genetics;
Forward from Diagnosis to Behavioral and Educational
Programming
Catherine E. Lord, University of Michigan, Ann Arbor, MI
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Screening and Early
Identification
Lonnie Zwaigenbaum, McMaster University, Hamilton, ON, Canada
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Changes in Prevalence, Demands
for Treatment and What's a Pediatrician To Do?
Susan E. Levy, Children's Hospital of Philadelphia, Philadelphia, PA
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Eating (and Not Eating) and
Sleeping (and Not Sleeping)
Susan Hyman, University of Rochester, Rochester, NY
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Discussion
Sponsored jointly by
the Child Neurology Society and the Pediatric Academic
Societies
3:15pm–5:15pm
2725—Integrating Genetic Susceptibility and
Environmental Influences in Pediatric Research
PAS Topic Symposium
Room 2008, Moscone West
Chair: Bruce P. Lanphear, Cincinnati Children's Environmental Health
Center, Cincinnati Children’s Hospital Medical Center,
Cincinnati, OH
Target Audience: A broad
pediatric audience with the goal of promoting
interdisciplinary understanding and greater integration of
genetic and environmental research.
Asthma, preterm birth, ADHD and
other prevalent pediatric conditions are widely recognized to
result from interactions of environmental influences and
genetic susceptibility. Tremendous progress has been made in
measuring both environmental and genetic risk factors.
Increasingly, researchers are moving beyond ecological methods
(e.g., questionnaires, air monitoring) to directly measure in
humans hundreds of environmental chemicals, from nicotine to
metals to DDT and phthalates. Similarly, unprecedented
innovation has led rapidly to high-throughput methods that
assess DNA variation across large cohorts. New
interdisciplinary collaborations that integrate state of the
art approaches to both environmental and genetic influences
should greatly improve our ability to predict and prevent
disease and disability. Such studies will be critical for
understanding mechanistic pathways, defining susceptible
subpopulations and developing effective interventions. This
session will provide an overview of gene–environment
research, describe recent advances in biomarkers of
environmental exposure and review new methods for measuring
genetic variability.
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Gene–Environment Interaction in
Common Pediatric Conditions: Conceptual Overview and
Recent Evidence
Robert S. Kahn, Cincinnati Children’s Hospital Medical Center,
University of Cincinnati College of Medicine, Cincinnati,
OH
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Advances in Biomarkers of
Environmental Exposure in Pediatric Research
Bruce P. Lanphear, Cincinnati Children's Environmental Health Center,
Cincinnati Children’s Hospital Medical Center,
Cincinnati, OH
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Measuring Genetic Susceptibility
to the Environment: Study Designs and Genotyping Methods
Robert O. Wright, Harvard Children's Environmental Health Center,
Boston Children's Hospital and the Harvard School of
Public Health, Boston, MA
3:15pm–5:15pm
2730—Mechanisms of Hypertension in the
Molecular Era
PAS/ASPN/IPHA/LWPES Topic Symposium
Room 2003-2005, Moscone West
Chairs: Bruce Z. Morgenstern, Phoenix Children's Hospital, Phoenix, AZ;
and Julie R. Ingelfinger, Massachusetts General Hospital,
Boston, MA
Target Audience: General
pediatricians, nephrologists, endocrinologists and
neonatologists.
Our understanding of the
pathophysiology of hypertension has been changing rapidly due
to advances in molecular genetics, most notably the
identification of several single-gene defects that cause
hypertension. This session will update participants on the
latest advances in our knowledge of molecular mechanisms of a
variety of forms of hypertension.
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Role of Dopamine Receptors
Pedro A. Jose, Georgetown University Medical Center, Washington, DC
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Perinatal Programming and the
Development of Hypertension
Lori Woods, Oregon Health & Science University, Portland, OR
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Low Renin Hypertension in
Childhood
Maria I. New, Mount Sinai School of Medicine, New York, NY
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WNK Kinases and Blood Pressure
Regulation
Richard Lifton, Yale University School of Medicine, New Haven, CT
Sponsored jointly by
the American Society of Pediatric Nephrology, the
International Pediatric Hypertension Association, the Lawson
Wilkins Pediatric Endocrine Society and the Pediatric Academic
Societies
5:15pm–7:15pm
Poster Session I and PAS Opening Reception
PAS Poster Session
Levels 1 and 2, Moscone West
Posters Available for Viewing:
4:00pm–7:30pm
Author Attendance: 5:15pm–7:15pm
Level 1:
– Developmental Biology
– Endocrinology
– Hematology–Oncology
– Neonatal Infectious Diseases
– Neonatology
– Nephrology
Level 2:
– Cardiology
– Developmental–Behavioral Pediatrics
– General Pediatrics
– Medical Education
– Neurology
Includes:
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SPR Student Research Award:
Resuscitation of Non-Viable Infants: Will
Neonatologists[apos] Practice Change After the Born-Alive
Infant Protection Act?
Mya Sendowski, University of California, San Francisco, CA
Sunday, April 30
8:00am–10:00am
3135—Environmental Health: Exposures and
Outcomes
PAS Platform Session
Room 2002, Moscone West
Chairs: Ellen F. Crain and Bruce P. Lanphear
8:00am–10:00am
3145—Genetic Basis of Disease: Pathogenesis
and Treatment
PAS Platform Session
Room 3000, Moscone West
Chairs: George A. Diaz and Brendan H. Lee
Includes:
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SPR Fellow's Basic Research
Award: Conditional Mutagenesis of the Homeobox Gene [italic]Hhex[/italic]
Reveals Novel and Essential Roles in Development of the
Liver and Extrahepatic Biliary Tract
Michael Hunter, Yale University School of Medicine, New Haven, CT
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SPR Student Research Award: Germ
Line [italic]KRAS[/italic] Mutations Encoding Proteins
with Novel Biochemical and Functional Properties Cause
Disorders of the Noonan Syndrome Spectrum
Suzanne Schubbert, University of California, San Francisco, CA
12:00pm–2:00pm
Poster Session II
PAS Poster Session
Levels 1 and 2, Moscone West
Posters Available for Viewing:
11:00am–4:00pm
Author Attendance: 12:00pm–2:00pm
Level 1:
– Allergy, Immunology and Rheumatology
– Developmental-Behavioral Pediatrics
– Endocrinology
– Infectious Diseases
– General Pediatrics
– Hematology–Oncology
Level 2:
– Cardiology
– Neonatal Neurology
– Neonatology
Includes:
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SPR Fellow's Basic Research
Award: Myopalladin Mutations and Inherited
Cardiomyopathies
Enkhsaikhan Purevjav, Baylor College of Medicine, Houston, TX
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SPR Clinical Research Award:
Accelerated Development in the Visual Areas of Preterm
Infants? A Voxel-Based Morphometry Study on Diffusion
Tensor MR Imaging (DTI)
Maria Miranda, Copenhagen University Hospital, Hvidovre, Denmark
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SPR Fellow's Clinical Research
Award: Novel Genotyping Technology To Classify Childhood
Leukemia
Joshua D. Schiffman, Stanford University, Palo Alto, CA
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SPR House Officer Research Award:
Erythropoietin Protein Expression in the Developing Human
Eye
Shrena Patel, University of New Mexico, Albuquerque, NM
2:00pm–4:00pm
3710—Non-Growth Related Issues in Girls
with Turner Syndrome
PAS/LWPES Topic Symposium
Room 3003-3005, Moscone West
Chairs: Judith G. Hall, The University of British Columbia and BC
Children's Hospital, Vancouver, BC, Canada; and Paul H.
Saenger, Montefiore Medical Center, The Bronx, NY
Target Audience: Geneticists,
endocrinologists, cardiologists and developmental
pediatricians.
Although the focus of the
pediatric endocrine community has been primarily on the growth
issues of girls with Turner Syndrome, other non-growth issues
continue to be described. This topic symposium will highlight
these non-growth-related issues and illuminate the problems
and strategies of dealing with them.
-
Evaluation of Congenital and
Acquired Heart Disease in Turner Syndrome
Carolyn A. Bondy, National Institute of Child Health and Human
Development, Bethesda, MD
-
Skeletal Health
Vladamir K. Bakalov, National Institute of Child Health and Human
Development, Bethesda, MD
-
Non-verbal Learning Disabilities
Marsha L. Davenport, University of North Carolina at Chapel Hill,
Chapel Hill, NC
Sponsored jointly by
the Lawson Wilkins Pediatric Endocrine Society and the
Pediatric Academic Societies
4:00pm–6:00pm
3800A—ASPHO Presidential Symposium and
Awards
ASPHO Presidential Lecture
Yerba Buena Gardens Salon 7, SF Marriott
Chair: F. Leonard Johnson, Oregon Health Sciences University, Portland,
OR
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Welcome
F. Leonard Johnson, Oregon Health & Science University, Portland,
OR
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ASPHO Young Investigator Award
Lectures:
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Rac GTPases Regulate the
Morphology and Deformability of the Erythrocyte
Cytoskeleton
Theodosia A. Kalfa
-
Phosphorylation-Mediated Control
of Transcriptional Repression by the Myeloid
Translocation Gene Protein, MTG16: Implications for
Hematopoietic stem Cell Self-Renewal and
Leukemogenesis
Michael Engel
-
Frank A. Oski Memorial Lecture:
Cell–Cell Interactions in the Bone Marrow: How Basic
Studies in Stem Cell Biology Informed New Therapeutics in
Cancer and Gene Therapy
David A. Williams, Cincinnati Children's Hospital Medical Center,
Cincinnati, OH
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Distinguished Career Award
Archie Bleyer, M. D. Anderson Cancer Center, Houston, TX
4:15pm–5:45pm
3810—RNA Interference, Technological
Development of siRNAs and Potential Treatments for Childhood
Diseases
PAS State of the Art Plenary
Room 3016-3018, Moscone West
Chair: R. Alan B. Ezekowitz, Harvard Medical School, Massachusetts
General Hospital, Boston, MA
Target Audience: Basic scientists
studying a broad range of childhood diseases, translational
scientists of all disciplines studying clinical implications
of basic science research, clinical scientists studying
childhood and other diseases in need of improved therapies and
clinicians interested in cutting-edge science and its medical
implications.
RNA interference is a recently
discovered, naturally occurring intracellular process that
regulates gene expression through the silencing of specific
mRNAs. Methods of harnessing this natural pathway are being
developed that allow the catalytic degradation of targeted
mRNAs using specifically designed complementary small
inhibitory RNAs (siRNA). siRNAs are being chemically modified
to acquire drug-like properties. Numerous recent high-profile
publications have provided proofs of concept that RNA
interference may be useful therapeutically. Much of the design
of these siRNAs can be accomplished bioinformatically, thus
potentially expediting drug discovery and opening new avenues
of therapy for many childhood diseases including uncommon
pediatric and orphan diseases. A discussion of the science
behind RNA interference will be followed by a presentation of
the potential practical issues in applying this technology to
disease. The program then describes two therapeutic programs
currently under way with applications to pediatric diseases. A
question-and-answer time will follow each discussion.
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The Science of RNA Interference
John J. Rossi, Beckman Research Institute of City of Hope, Duarte, CA
-
RNA Interference and Its
Potential Applications for Controlling Disease
Judy Lieberman, CBR Institute for Biomedical Research and Harvard
Medical School, Boston, MA
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Silencing the VEGF Pathway with
siRNAs and the Potential Application to Retinopathy of
Prematurity
Pamela Pavco, Sirna Therapeutics, Boulder, CO
-
siRNA as Therapy for Respiratory
Syncytial Virus
John P. DeVincenzo, University of Tennessee School of Medicine,
Memphis, TN
Monday, May 1
7:00am–8:00am
4060A—Pediatric Cancer—Pharmacogenetics
and Pharmacogenomics: Do They Have Practical Applications?
ASPHO Workshop
Golden Gate Hall A2-3, SF Marriott
Chairs: Brigitta U. Mueller, Baylor College of Medicine, Houston, TX;
and Craig A. Mullen, University of Rochester Medical Center,
Rochester, NY
This session will review genetic
polymorphisms related to drug metabolism and their
relationship to toxicity. Available pediatric data will be
reviewed specifically related to current recommendations for
genetic testing in relationship to specific agents, as well as
dose modifications. This program will also contain a case
review to highlight potential clinical scenarios in
relationship to pharmacogenetic testing.
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Pharmacogenetics in Clinical
Trials
Lisa Bomgaars, Texas Children's Cancer Center, Houston, TX
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Pharmacogenetics and Toxicity
Secondary to Cancer Therapy
Fatih Okcu, Texas Children's Cancer Center, Baylor College of Medicine,
Houston, TX
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Case Discussion
8:00am–10:00am
4124—Genetics and Dysmorphology
PAS Platform Session
Room 2006, Moscone West
Chairs: Suzanne B. Cassidy and Mira Irons
10:15am–12:15pm
4330—Endocrinology: Growth—Clinical
PAS/LWPES Platform Session
Room 3007-3011, Moscone West
Chairs: Jill D. Jacobson and Gadi B. Kletter
10:15am–12:15pm
4360—New Perspectives on ADHD
PAS Poster Symposium
Room 2002, Moscone West
Chairs: Marc A. Lerner and Mark L. Wolraich
12:00pm–6:45pm
Commercial Exhibits Open and Posters
Available for Viewing
PAS Exhibits
Levels 1 and 2, Moscone West
Posters Available for Viewing:
12:00pm–6:45pm
Author Attendance: 5:15pm–6:45pm
Level 1:
– Critical Care
– Gastroenterology
– Genetics
– Neonatal Epidemiology and Follow Up
– Neonatal Pulmonology
– Neonatology
– Nephrology
– Pulmonology
Level 2:
– Developmental–Behavioral Pediatrics
– Emergency Medicine
– General Pediatrics
– Medical Education
3:00pm–4:00pm
4600A—LWPES Trans-Pacific Lecture
LWPES Award
Room 3002-3008, Moscone West
Chair: Mark Sperling, Children's Hospital of Pittsburgh, Pittsburgh, PA
Target Audience: Geneticists,
endocrinologists and molecular biologists.
This new lecture recognizes one
outstanding scientist from the Pacific Rim. This talk will
illuminate congenital adrenal disorders with particular focus
on the relationship between newborn screening and molecular
mechanisms.
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Congenital Adrenal Disorders:
From Newborn Screening to Molecular Mechanism
Kenji Fujieda, Asahikawa Medical College, Asahikawa, Japan
3:00pm–5:00pm
4625A—Cancer Etiology
ASPHO Symposium
Room 3016-3018, Moscone West
Chairs: Doug K. Graham, University of Colorado at Denver and Health
Sciences Center, Denver, CO; and Julie A. Ross, University of
Minnesota, Minneapolis, MN
This program will highlight both
clinical and basic science research into the causes of
childhood cancer. The program will begin with an overview of
the epidemiology of childhood cancer including incidence,
trends and putative risk factors. Obstacles to conducting
well-designed studies in North America will be discussed, and
the establishment of a North American Childhood Cancer
Research Network will be introduced as a means to help address
some of these challenges. The program will follow with a
discussion of genetic susceptibility to childhood cancer from
single gene disorders with high individual risk but low
population frequency to common population polymorphisms with
low individual risk but high population frequency. In the
final presentation, the role the family of tyrosine kinases
has in the pathogenesis of childhood cancer will be addressed.
Current research on a novel receptor kinase, Mer, will be
presented to suggest a potential role of this proto-oncogene
in the development of pediatric T cell leukemia and lymphoma.
After this session, participants
should be able to:
1. Discuss the current state of
knowledge regarding the epidemiology of childhood cancer in
the United States.
2. Describe the major activities of the Childhood Cancer
Research Network.
3. Identify the role of genetic susceptibility in the
development of childhood cancer.
4. Describe the role of tyrosine kinases in the pathogenesis
of pediatric cancer, and discuss how these oncogenes are being
targeted in the development of new drugs.
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Introduction
Doug K. Graham, University of Colorado at Denver and Health Sciences
Center, Denver, CO
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Causes of Childhood Cancer: Where
to Next?
Julie A. Ross, University of Minnesota, Minneapolis, MN
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Tyrosine Kinases as Oncogenes in
Pediatric Cancer: The Role of the Mer Receptor Tyrosine
Kinase in Lymphoblastic Leukemia and Lymphoma
Doug K. Graham, University of Colorado at Denver and Health Sciences
Center, Denver, CO
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Genetic Susceptibility to
Cancer—The Weak and the Strong
Stella M. Davies, Cincinnati Children’s Hospital Medical Center,
Cincinnati, OH
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Question and Answer Session
3:00pm–5:00pm
4656—Newer Mouse Technologies Targeted at
Dissecting Mechanisms
PAS Educational Workshop
Yerba Buena Gardens Salon 5, SF Marriott
Leader: Parviz Minoo, Los Angeles, CA; Co-leaders: Francesco J. DeMayo,
Ed Morrisey
Target Audience: Clinician and
basic scientists, including new investigators, fellows and
postdoctoral fellows.
The use of transgenic mice has
become commonplace in analysis of developmental and
physiological pathways. This technology has contributed
significantly to and continues to provide critical information
for understanding fundamental biological processes and their
clinical implications in health and disease. The objective of
this workshop is to discuss and review state-of-the-art
approaches using transgenic technologies in mice, including
genetically engineering the airways for the regulated ablation
and expression of genes, as well as distinct examples from the
speakers’ works on lung development and gene regulation.
5:15pm–6:45pm
Poster Session III
PAS Poster Session
Levels 1 and 2, Moscone West
Posters Available for Viewing:
12:00pm–6:45pm
Author Attendance: 5:15pm–6:45pm
Level 1:
– Critical Care
– Gastroenterology
– Genetics
– Neonatal Epidemiology and Follow Up
– Neonatal Pulmonology
– Neonatology
– Nephrology
– Pulmonology
Level 2:
– Developmental–Behavioral Pediatrics
– Emergency Medicine
– General Pediatrics
– Medical Education
Tuesday, May 2
8:00am–10:00am
5150—Cardiology—Genetics and Development
PAS Platform Session
Room 3000, Moscone West
Chairs: H. Scott Baldwin and Marlene Rabinovitch
Includes:
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SPR Student Research Award:
Mutations in [italic]JPH2-[/italic]Encoded Junctophilin 2
as a Novel Pathogenic Mechanism in Hypertrophic
Cardiomyopathy
Karin Batalden, Mayo Medical School, College of Medicine, Rochester, MN
8:30am–9:45am
5200A—The Challenge of Diagnosis and
Outcome in Intersex
LWPES State of the Art Plenary
Room 3007-3011, Moscone West
Chair: Lynne Levitsky, Massachu |
