GENETICS
Saturday, 5/3/2003
8:30am–11:30am
3150—Handheld
Computing for the Pediatrician (Part I) PDA 101:
Introduction To Handheld Computing for the Pediatrician
PAS
Mini Course
Chairs: K. Johnson, Vanderbilt
University, Nashville, TN and A. Meyers, Boston University
Medical Center, Boston, MA
The use of handheld computers in medicine has grown
dramatically. This session is intended for those who have
a handheld computer (Palm or Pocket PC), or are
considering purchasing one, but who have not yet learned
how to use it. The goal of the session is to help the
beginner achieve a working familiarity with handheld
computing such that they will leave the session ready,
able and eager to use their own device in their daily life
and clinical practice. Ideally, all participants should
bring their own handheld. The session will include an
overview of the devices and their desktop software;
mastery of the basic (built-in) functions: datebook/calendar,
address book, memo pad, to-do lists; and add-on
applications: where to find them, how to install them and
what applications are available specific to clinical
pediatrics. Participants should be familiar with the use
of personal computers and the Internet, but no prior
knowledge of handheld computing is assumed.
Introductions and Overview of Mini Course
Lecture (with Audience Participation)—PDA Basics,
Hardware and Software, the Palm OS and Its Functions
Palm OS Functions, Continued; PPC OS
Medical and Pediatric Applications for the PDA
8:30am–11:30am
3199c—Applying
for NIH Research Grants
Educational
Workshop
Pedro A. José, Professor of
Pediatrics and Physiology and Biophysics, Georgetown
University Medical Center, Washington, DC, Anshumali
Chaudhari, Scientific Review Administrator, Experimental
Cardiovascular Sciences Study Section, National Institutes
of Health, Bethesda, MD, Terry Rogers Bishop, Training and
Careers Program Director and Erythroid Lineage Genomics (ELGAP),
National Institutes of Health, Bethesda, MD and Linda L.
Wright, Deputy Director, Center for Research for Mothers
and Children, National Institute of Child Health and Human
Development, National Institutes of Health, Bethesda, MD
In the current climate of funding opportunities, the
ability to successfully obtain extramural support involves
applying for grants that are appropriate for an
investigator's career stage and drafting a clear and
focused application. In this session, we will discuss
career-stage-appropriate funding opportunities from the
NIH. We will also address how to write a grant
application, focusing on strategies with proven success.
The working of NIH study sections will be reviewed along
with how to best address the concerns of review panels. We
will also focus on how to obtain funding for fellowship
postdoctoral training and early stages of an academic
career.
8:30am–11:30am
3201—Beyond
p Values—Inference in Clinical Research
Educational
Workshop
R. Wright and D. Shay, Department
of Pediatrics, Children’s Hospital, Boston, MA and
Centers for Disease Control
Background: Observational research studies have become
increasingly complex. The results of observational
research studies can be driven by properties other than
chance or causation. While these factors may drive the p
values of the results, they also change the appropriate
interpretation.
Workshop Methods: In the first half of this workshop,
we will formally define confounding, effect modification,
restriction vs. heterogeneity of exposure, intermediate
variables, selection bias and differential vs.
nondifferential information bias. In the second half, we
will use a case-based approach to illustrate examples of
studies in which the results are driven by these factors
and compare differences in the appropriate interpretation
in the presence and absence of these factors. Minimal math
skills will be needed, however, familiarity with basic
concepts of study design and data analysis (case control
vs. cohort study, interpretation of Ors, etc.) is
recommended. We will specifically illustrate examples of
effect modification vs. confounding, intermediate
variables vs. confounding, selection bias, underpowered
studies, and the role of measurement error in determining
effect estimates.
8:30am–12:00pm
3270A—LWPES
Plenary Session I
LWPES
Opening Remarks and Awards
Mark A. Sperling, President, LWPES;
University of Pittsburgh, Children's Hospital, Pittsburgh,
PA
Lawson Wilkins Lecture
Lessons from Tissue-Specific lgfl Knockout Mice
Derek LeRoith, National Institutes
of Health, Bethesda, MD
Robert Blizzard Lecture
Autoimmune Polyglandular Syndrome Type I: Clinical
Insights from Molecular Discoveries
Diane Mathis, Joslin Diabetes
Center, Boston, MA
Esoterix Lecture
Defective Signaling in Endocrine Disorders
Allen Spiegel, National Institutes
of Health, Bethesda, MD
12:00pm–3:00pm
3500—The
New Genetics: Impact on the Primary Care Pediatrician and
the Ethical, Legal and Psychosocial Issues
PAS
Mini Course
Chair: Benjamin Siegel, Boston
University School of Medicine, Boston Medical Center,
Boston, MA and Aubrey Milunsky, Boston University School
of Medicine, Boston Medical Center, Boston, MA
There are many new technologies to help the primary
care pediatrician more accurately diagnose genetic
disorders. These newer diagnostic tests and their
interpretation require a close working relationship
between the pediatrician and the clinical geneticist.
Approaches to the diagnosis, management, and discussion of
the psychosocial, legal and ethical issues of genetics,
from screening, to giving bad news, to helping families
understand and cope with the impact of genetic diseases
within a family context, have always been challenges for
the general pediatrician. This session will examine the
information needed from the clinical assessment of the
child in relationship to the family context that increases
the likelihood that the pediatrician is dealing with a
possible genetic issue. Newer diagnostic genetic
technologies will be reviewed. Exploration of the history,
including the family pedigree, aspects of the physical
exam that alert the pediatrician to a possible genetic
problem, the referral process to a clinical geneticist and
the legal, ethical and psychosocial issues that should be
addressed with the individual or family member before the
referral to the geneticist will be presented. The
collaborative process between the patient/family, the
pediatrician and geneticist will be examined.
The History and Physical Examination: Screening for
Genetic Disorders in Primary Care
Benjamin S. Siegel, Boston
University School of Medicine, Boston Medical Center,
Boston, MA
New Diagnostic Technologies and the Role of the
Clinical Geneticist
Aubrey Milunsky, Boston University
School of Medicine, Boston Medical Center, Boston, MA
ELSI: The Ethical, Legal and Social Issues from the
Perspective of Primary Care and Clinical Genetics
Benjamin S. Siegel, Boston
University School of Medicine, Boston Medical Center,
Boston, MA
Aubrey Milunsky, Boston University School of Medicine,
Boston Medical Center, Boston, MA
Open Discussion
12:00pm–3:00pm
3501—Handheld
Computing for the Pediatrician (Part II) PDA 102:
Intermediate/Advanced Handheld Computing for the
Pediatrician
PAS
Mini Course
Chairs: K. Johnson, Vanderbilt
University, Nashville, TN and A. Meyers, Boston University
Medical Center, Boston, MA
The field of medicine is replete with examples of ways
that handheld computers may be used to educate, organize
and inform clinicians. There are also examples of how
researchers may benefit from this technology. During this
more advanced session, we will discuss some of these uses
of handheld computers. We will provide examples of
software in a variety of domains and discuss their
historical, current and future use. We also will
demonstrate some future technology and discuss its
implications. At the conclusion of this session,
participants will have increased familiarity with
state-of-the-art applications, techniques to install them
and the future of handheld computers and wireless
networking.
Introductions and Overview of Mini Course
Lecture with Audience Participation: The Top 10 Novel
Uses of PDAs in Health Care
Exercises and Demonstrations
12:00pm–3:00pm
3556—Introductions
to Molecular Techniques in Pediatric Research Training:
Basic Principles of Gene Regulation and Expression
Analyses
Educational
Workshop
P. L. Ramsay, Departments of
Perinatal-Neonatal Medicine and Cellular and Molecular
Biology and H. Karpen, Departments of Perinatal-Neonatal
Medicine, Baylor College of Medicine, Houston, TX
Cell and molecular biology have revolutionized our
understanding of the aberrant physiology underlying the
mechanisms of human disease. Subspecialty training in
pediatrics requires a comprehensive understanding of the
molecular methodologies involved in the current diagnosis
and treatment of human disease, as well as the future
design of therapeutic interventions. This workshop is
designed to provide the pediatric physician in training
with an overview of some basic molecular principles
relevant to understanding normal gene expression, as well
as an understanding of the methodologies utilized in
current diagnostic and experimental designs. Workshop
modules will focus on participant identification of
several common laboratory methodologies for DNA
sub-cloning, generation of reporter gene constructs and
reporter gene system analyses. Upon completion of this
workshop, participants will be able to (a) describe two
critical components for gene sub-cloning and analysis, (b)
design a tissue-specific reporter gene construct for both
in vitro and/or in vivo analysis and (c) identify two
methods for the analysis of genetically altered gene
expression in vitro and/or in vivo.
1:00pm–3:00pm
3675A—Hot
Topics in Renal Genetic Diseases
ASPN
Symposium
Chair: Friedhelm Hildebrandt,
University of Michigan, Ann Arbor, MI and Lisa Satlin,
Mount Sinai School of Medicine, New York, NY
This session will highlight recent progress that has
been made in the identification of genes that are mutated
in several hereditary diseases associated with high
morbidity in the pediatric population. The objective is to
understand the molecular mechanisms underlying the genesis
of each of these diseases. Discussion will focus on the
identity of the responsible gene, its localization within
the kidney and physiology.
ARPKD: Identification of the Gene and Analysis of the
Protein
Peter C. Harris, Mayo Clinic,
Rochester, MN
Discovering Novel Disease Mechanisms by Positional
Cloning of Genes Causing Nephronophthisis
Friedhelm Hildebrandt, University of
Michigan, Ann Arbor, MI
The Genetics of Primary Hyperoxalurias
Craig B. Langman, Feinberg School of
Medicine, Northwestern University, Chicago, IL
Cystinuria
Paul R. Goodyer, McGill University,
Montreal, Canada
The Roles of Podocin and Nephrin in Podocyte Biology
William E. Smoyer, University of
Michigan, Ann Arbor, MI
Sponsored jointly with the Sponsored by the NephCure
Foundation
1:00pm–3:00pm
3680—Hematology/Oncology
I
Original
Science Abstracts - Platform Session
Moderators: Thomas C. Abshire and
Laurence A. Boxer
1:00pm–3:00pm
3704c—So
You Want To Be an Author
Educational
Workshop
Catherine D. DeAngelis,
Editor-in-Chief, JAMA, Chicago, IL
This interactive session will provide the attendee with
basic information on publication of a manuscript, as
derived from the perspective of an editor. Issues (with
data provided when possible) to be discussed are:
A. View From the Inside
- Characters involved
- Manuscript flow
- Peer review process
- Working with the author
B. View From the Outside
- How to choose the right journal for your paper
- How to prepare the cover letter
- How to prepare the abstract
- How to prepare the body of the manuscript
- How to prepare the references
C. Conflict of Interest and Ethics
1:30pm–3:30pm
3740A—Diabetes
Symposium
LWPES
Chair: Nicole Glaser, University
of California, Davis, Sacramento, CA
Significant advances in both the understanding of the
underlying causes, as well as in pragmatic aspects of
clinical management of diabetes, are highlighted. Work at
three levels: 1) biology of islet cell function and
survival, 2) analysis of informative monogenic forms of
diabetes, and 3) new methods of diabetes monitoring, will
be discussed.
Common Threads in Types I and II Diabetes
Morris White, Joslin Diabetes
Center, Boston, MA
New Monogenic Forms of Diabetes: Insights and Puzzles
Constantine Polychronakos, McGill
University, Montreal, Canada
New Monitoring Methods in Diabetes
Denis Daneman, Hospital for Sick
Children, Toronto, Canada
Supported by an educational grant from the Juvenile
Diabetes Research Foundation International
3:15pm–5:15pm
3751—New
Genetics of Childhood Acute Leukemia
PAS/ASPHO
Topic Symposium
Chair: Valerie Castle, University
of Michigan, Ann Arbor, MI
Exciting new advances in gene expression analysis and
animal models of childhood ALL and AML have opened the way
for the emerging prospect of new forms of targeted therapy
for childhood leukemia.
Introduction
Valerie P. Castle, University of
Michigan, Ann Arbor, MI
Genetic Models of AML and New Therapeutic Approaches
D. Gary Gilliland, Harvard Medical
School, Boston, MA
Gene Expression Arrays in B-Lineage ALL and AML
James R. Downing, St. Jude
Children's Research Hospital, Memphis, TN
New Genetics of T-Cell ALL: A Fish Tale
A. Thomas Look, Dana Farber Cancer
Institute, Boston, MA
Discussion
Sponsored jointly with the American Society of
Pediatric Hematology/Oncology
3:15pm–5:15pm
3805—Nephrology
I
Original
Science Abstracts - Platform Session
Chair: Samir S. El-Dahr and Kathy
L. Jabs
3:15pm–5:15pm
3807—Pediatric
Nutrition and Metabolism
Original
Science Abstracts - Platform Session
Chair: Robert J. Shulman and John
N. Udall
3:15pm–5:15pm
3850c—An
Innovative Approach to Self-Directed Professional
Development and Lifelong Learning
Educational
Workshop
Henry H. Bernstein, Associate
Professor of Pediatrics, Harvard Medical School, Boston,
MA and Carol Carraccio, Professor of Pediatrics,
University of Maryland School of Medicine, Baltimore, MD
The 21st century heralds a paradigm shift in medical
education with a focus turned to competence and outcomes.
The Accreditation Council for Graduate Medical Education (ACGME)
is spearheading a competency-based system of graduate
medical education coincident with the American Board of
Pediatrics’ (ABP) initiative to transition from periodic
"recertification" to "maintenance of
certification." Our greatest challenge as educators
lies in developing tools to evaluate competence during
training and to equip all trainees with the skills
necessary to achieve quality continuous professional
development in order to maintain their certification in
pediatrics.
The overarching goal of this workshop is to explore the
value of using technology as a tool for promoting
self-assessment and lifelong learning in continuous
professional development. We will demonstrate how
physicians can use an innovative web-centered tool to
document competence in practice-based learning and
improvement. Participants will discover how to create and
manage a personal list of educational needs based on their
professional experiences, develop individualized learning
plans to address these needs and then document the impact
of learning on their practice.
The outcome of implementing this web-based technology
will be the ability to demonstrate competence of our
trainees in the domain of practice-based learning and
improvement to the ACGME and the preparation of tomorrow’s
physicians to demonstrate evidence of continuous
professional development in maintaining their
certification.
3:15pm–5:15pm
3853c—Who
Decides? Bioethical Dilemmas in Pediatrics
Educational
Workshop
Susan Albersheim, Clinical
Professor, Department of Pediatrics, British Columbia's
Children's Hospital, Vancouver, BC, Canada and Joel E.
Frader, Professor of Pediatrics/Medical Ethics and
Humanities, Feinberg School of Medicine, Northwestern
University, Chicago, IL
What should you do when parents want you to continue
burdensome treatments, which you think are futile? What
should you do when parents want you to stop intensive care
treatment, the continuation of which you think is in the
best interests of the child? Who ought to make decisions
for the not yet competent? Is it the parents, the doctors,
the ethics committee, society or some other disinterested
third party? The goal of this seminar is to consider the
complexity of these difficult decisions, looking at
factual and evaluative considerations. Through interactive
case discussion we will identify the problems and
potential pitfalls in decision-making for the pediatric
population.
5:15pm–7:15pm
Poster
Session I
Original
Science Abstracts – Poster Session
Sunday, 5/4/2003
8:00am–10:00am
4102—Smallpox
and Bioterrorism Preparedness Planning
PAS/PIDS
Topic Symposium
Chair: John F. Modlin, Children's
Hospital at Dartmouth/Dartmouth Medical School, Lebanon,
NH
This program will give a "pediatric
perspective" to smallpox bioterrorism preparedness
planning efforts now under way within federal, state and
local public health agencies. It will include a review of
smallpox epidemiology, clinical disease, smallpox (vaccinia)
vaccine and lessons learned from the WHO Smallpox
Eradication Program. The nature of the current threat and
responses to that threat will be discussed.
Smallpox Epidemiology and Clinical Disease
Walter A. Orenstein, National
Immunization Program, Centers for Disease Control and
Prevention, Atlanta, GA
Surveillance/Control Methods
J. Michael Lane, Formerly Director,
Smallpox Eradication Program, CDC, Atlanta, GA
Smallpox (Vaccinia) Vaccine: Efficacy and Complications
John M. Neff, Children’s Hospital
and Regional Medical Center, Seattle, WA
Smallpox Bioterrorism Preparedness Planning
John F. Modlin, Children's Hospital
at Dartmouth/Dartmouth Medical School, Lebanon, NH
Sponsored jointly with the Pediatric Infectious
Diseases Society
8:00am–10:00am
4153—Clinical
Bioethics
Original
Science Abstracts - Platform Session
Moderators: William L. Meadow and
David E. Woodrum
8:00am–10:00am
4155—Genetic
Basis of Cardiac Disease
Original
Science Abstracts - Platform Session
Moderators: Bruce D. Gelb and
Deepak Srivastava
8:00am–10:00am
4156—Hematology/Oncology
II
Original
Science Abstracts - Platform Session
Moderators: Prasad Mathew and
Daniel S.G. Wechsler
8:00am–10:00am
4157—Outcomes
of Prenatal Exposures
Original
Science Abstracts - Poster Symposium
Moderators: Mark L. Batshaw and
Bruce K. Shapiro
11: 45am–1:45pm
Poster
Session II
Original
Science Abstracts – Poster Session
- Genetics/Inborn
Errors of Metabolism
2:00pm–4:00pm
4631c—The
Art of Lecturing
Educational
Workshop
Beverly Wood, Professor of
Radiology & Pediatrics, Keck School of Medicine,
University of Southern California
Receive helpful pointers to make your talks memorable
and useful. This session will introduce methods of
planning and organizing presentations, preparing and
designing visual aids, handouts and clear delivery.
2:00pm–5:00pm
4668—Terrorism
and Children
Educational
Workshop
R. Leggiadro, A. Fine, S. Shelov
and G. Foltin, Hackensack University Medical Center,
Hackensack, NJ, New York City Dept of Health, New York,
NY, Maimonides Medical Center, Brooklyn, NY and NYU School
of Medicine, New York, NY
The 2001 World Trade Center and anthrax attacks
established terrorism as a reality in this country. In
addition to anthrax, critical biological agents include
smallpox, plague, tularemia, botulinum toxin, and viral
hemorrhagic fever. Release of sarin nerve gas in the Tokyo
subway system by the Aum Shinrikyo cult in 1995 resulted
in some 5,000 casualties, including 12 deaths, and the
threat of a radiation incident perpetrated by terrorists
is also real. Pediatricians have a key role in the
management of illness after a terrorist incident,
including biological, chemical or nuclear releases.
Effective preparedness requires an increased index of
suspicion for unusual diseases or clusters of illness,
with prompt reporting to public health authorities to
facilitate recognition of an outbreak and subsequent
intervention. Psychological effects of a domestic
terrorist disaster on children will also need to be
managed appropriately. This workshop will address the
epidemiologic, clinical, preparedness and response issues
relevant to biological, chemical and nuclear threats to
children, who are especially vulnerable. Specific and
detailed diagnostic and management information will be
provided, as well as emergency contact and educational
resource information.
2:30pm–4:00pm
4732—Primary
Immunodeficiency Diseases, a Hematologic and Molecular
Approach
PAS/ASPHO
State of the Art
Chair: Laurence A. Boxer,
University of Michigan Medical Center, Ann Arbor, MI
The objective of this symposium is to better understand
the molecular and genetic basis of three prototypes of
primary immunodeficiency disorders that are of interest to
hematologists and the curious pediatrician. Exploring the
function of the genes involved in these rare disorders not
only contributes to the understanding of the clinical
phenotypes but also may lead to improved treatment and
ultimately will make gene therapy a reality.
Dr. Notarangelo will describe the different phenotypes
of the known Hyper-IgM Syndromes and correlate the
clinical findings with the molecular defects associated
with these diseases. He will discuss in detail the
consequences of mutations of CD40 ligand and its receptor,
CD40, on activation of B and T cells and will dissect the
molecular events resulting from mutations of activation
induced cytidine deaminase (AID) and NEMO.
The clinical spectrum of symptoms associated with
mutations of WASP, the gene responsible for the Wiskott-Aldrich
Syndrome (WAS) if mutated, will be presented in the second
talk. An attempt will be made to correlate mutations of
WASP with clinical phenotypes and ultimate outcome.
In the last talk, Dr. Puck will discuss the
consequences of the immune dysregulation caused by defects
in the cell death pathway and the genetic basis for
Autoimmune Lymphoproliferative Syndrome (ALPS).
Of Genes and Phenotypes: The Clinical, Molecular and
Immunological Spectrum of Immunodeficiency with Hyper–IgM
Luigi D. Notarangelo, University of
Brescia, Brescia, Italy
The Wiskott-Aldrich Syndrome, a Challenge for the
Hematologist
Hans D. Ochs, University of
Washington School of Medicine, Seattle, WA
Autoimmune Lymphoproliferative Disease: When
Lymphocytes Don't Die as They Should
Jennifer M. Puck, National Human
Genome Research Institute/National Institutes of Health,
Bethesda, MD
Sponsored jointly with the American Society of
Pediatric Hematology/Oncology
2:30pm–4:30pm
4760—The
Changing Spectrum of Pediatric Specialty Care: Implication
for Pediatric Generalist and Specialist
PAS
State of the Art
Chair: Russell Chesney,
University of Tennessee Health Science Center, Memphis, TN
In the face of dramatic alterations in health care
delivery during the 1990s, the roles of pediatric
generalists and subspecialists have changed. This has led
to national debate as to how general pediatricians and
subspecialists should be trained, how they should interact
and what final product or solution is desired. Both the
United States and Canada are affected by these changes. In
this session three experts will cover important aspects of
this emerging problem.
Overview
Russell W. Chesney, University of
Tennessee Health Science Center, Memphis, TN
Distribution of Generalist and Subspecialist Care for
Children: A Moving Target
Julia A. McMillan, Johns Hopkins
University School of Medicine, Baltimore, MD
Subspecialty Pediatrics in Canada
Robert H.A. Haslam, University of
Toronto, Hospital for Sick Children, Toronto, Ontario,
Canada
Who Cares for Children with Chronic Conditions?
James M. Perrin, Mass General
Hospital for Children, Harvard Medical School, Boston, MA
Discussion
Sponsored jointly with the Public Policy Council of the
APS, AMSPDC, SPR and the Public Policy Committee of the
APA
2:45pm–4:15pm
4780—Sex
and the Pediatrician
PAS/LWPES
State of the Art
Chair: David Geller, UCLA School
of Medicine, Cedars-Sinai Medical Center, Los Angeles, CA
The processes of gonadal differentiation,
X-inactivation and the proper imprinting of selected genes
are all required for the correct development of gonadal
and phenotypic sex. Recent advances in these three areas
will be presented.
Sexual Differentiation: Battle of the Sexes
J. Larry Jameson, Northwestern
University Medical School, Chicago, IL
X-Inactivation in Pediatric Endocrinology
Huntington F. Willard, Institute for
Genome Sciences and Policy, Duke University, Durham, NC
Imprinted Genes and the Role of Parental Sex
J. Richard Chaillet, University of
Pittsburgh, Pittsburgh, PA
Sponsored jointly with the Lawson Wilkins Pediatric
Endocrine Society
4:15pm–6:15pm
4850—Animal
Models of Human Cardiopulmonary Development
PAS
Topic Symposium
Chairs: Marlene Rabinovitch,
Stanford University School of Medicine, Stanford, CA and
Scott Baldwin, Vanderbilt University Medical Center,
Nashville, TN
This symposium highlights how a variety of approaches
have led to understanding how mutations in specific genes
cause abnormalities in cardiopulmonary development. Our
focus is on reproducing, in a transgenic animal, a
genotype relevant to human disease, observing the fidelity
of the phenotype and then establishing the downstream
pathobiology. For example, in the case of a transcription
factor mutation, the pathobiology should be evident based
upon the target genes involved. When an extracellular
matrix component is mutated, strategies are designed to
define how this alters cellular events that cause disease.
Introduction
Marlene Rabinovitch, Stanford
University School of Medicine, Stanford, CA
Molecular Building Blocks of the Heart: Implications
for Congenital Hearth Disease
Deepak Srivastava, The University of
Texas Southwestern Medical Center, Dallas, TX
Genes That Alter Vascular Development and Gene Therapy
Harry C. Dietz, Howard Hughes
Medical Institute, Johns Hopkins University School of
Medicine, Baltimore, MD
Lung and Lung Vascular Development
John M. Shannon, Cincinnati
Children's Hospital Medical Center, Cincinnati, OH
From Hop to Jump in Cardiac Development and the
Genetics of Congenital Heart Disease
Jon Epstein, University of
Pennsylvania, Philadelphia, PA
4:15pm–6:15pm
4851—Developmental
Neurogenetics
PAS
Topic Symposium
Chair: William Dobyns, The
University of Chicago, Chicago, IL
This 2-hour symposium will review two current topics in
developmental neurogenetics using both mouse and human
malformations to elucidate the molecular basis of normal
and abnormal brain development. The two areas covered will
be midbrain–hindbrain (brainstem and cerebellum)
development and nonradial migration in the forebrain. For
both topics, speakers will review existing mouse models
and genes known to be involved in key developmental steps,
review relevant human malformations and present the
results of ongoing research.
The Long and Winding Road: The Role of Gene Discovery
in Human Brain Malformations
William B. Dobyns, The University of
Chicago, Chicago, IL
Getting to the Roof of the Problem: Development and
Malformations of the Mid-Hindbrain in Mice
Kathleen J. Millen, The University
of Chicago, Chicago, IL
Getting to the Roof of Our Problem: Human Malformations
of the Mid-Hindbrain
Melissa A. Parisi, University of
Washington, Seattle, WA
Where Has All the GABA Gone? ARX, Malformations,
Epilepsy, Mental Retardation and Pleiotropy
William B. Dobyns, The University of
Chicago, Chicago, IL
Discussion
Monday, 5/5/2003
8:00am–10:00am
5100—Birth
Defects in the Developing Countries
PAS
Topic Symposium
Chair: Michael Katz, March of
Dimes Birth Defects Foundation, White Plains, NY
In low- and middle-income countries where more than 80%
of the world’s population lives, birth defects and other
perinatal problems cause more loss of healthy years of
life to early mortality and disability than almost any
other condition. Yet, development of strategies for the
prevention and care of birth defects has received
insufficient international attention to date. The reasons
for this include: a general lack of knowledge of the
problem and of the considerable social and economic toll
it imposes; a lack of awareness of the potential for
prevention; and, as important, the absence of an
international framework of mechanisms for promoting
cooperative actions and solutions.
This session will present statistics on the global toll
of birth defects and discuss a recent report of the U.S.
Institute of Medicine commissioned to identify
cost-effective opportunities for care and prevention of
birth defects in developing countries. Specific
recommendations for priority research, capacity building
and institutional efforts to reduce adverse birth outcomes
will also be discussed. The session will explore the
applicability of the report’s findings to developing
countries. It will also suggest what actions are required
to implement appropriate public health strategies. It will
conclude with a presentation on research directions for
care and prevention.
Introduction
Michael Katz, March of Dimes Birth
Defects Foundation, White Plains, NY
The Origin of the IOM Report: Increasing Toll of Birth
Defects Worldwide: A Neglected Public Health Priority
Christopher P. Howson, March of
Dimes Birth Defects Foundation, White Plains, NY
The IOM Report
Barbara J. Stoll, Emory University
School of Medicine, Atlanta, GA
Perspective from a Developing Country
Arnold Christianson, National Health
Laboratory Service and University of Witwatersrand,
Johannesburg, South Africa
Perspective from the United States
Jeffrey C. Murray, University of
Iowa Hospitals & Clinics, Iowa City, IA
Perspective from the CDC
Jose' F. Cordero, National Center on
Birth Defects & Developmental Disabilities
Discussion
Sponsored jointly with the March of Dimes Birth Defects
Foundation
8:00am–10:00am
5101—The
Genetic Basis of Gastrointestinal Disease
PAS/NASPGHAN/AAP
Topic Symposium
Chairs: William Berquist,
NASPGHAN, Stanford University School of Medicine, Palo
Alto, CA and Michael Narkewicz, AAP, University of
Colorado Health Science Center, Denver, CO
Attendees of this topic symposium will learn of the
exciting new advancements in understanding the genetic
contributions to a variety of gastrointestinal diseases
such as intractable diarrhea, Hirschsprung’s Disease and
inflammatory bowel disease.
The Genetics of Intractable Diarrhea and Intestinal
Failure in Infants
Martin G. Martin, University of
California School of Medicine, Los Angeles, CA
Genetic Basis of Hirschsprung’s Disease: Implications
in Clinical Practice
Cheryl E. Gariepy, University of
Michigan Health System, Ann Arbor, MI
The Genetics of IBD: Diagnostic and Therapeutic
Implications
Carmen Cuffari, Johns Hopkins
Hospital, Baltimore, MD
Sponsored jointly with the North American Society of
Pediatric Gastroenterology, Hepatology and Nutrition,
American Academy of Pediatrics
8:00am–10:00am
5102—Intrauterine
Environment and Neonatal Health
PAS
Topic Symposium
Chair: David P. Carlton,
University of Wisconsin, Madison, WI
New information is emerging that attests to the
importance of the intrauterine environment on subsequent
neonatal and child health. Although premature labor is one
of the most acute outcomes that result from alterations in
the normal intrauterine environment, more subtle outcomes
include those affecting the respiratory and central
nervous systems. Dr. Alan Jobe will discuss the exciting
new insights that he and his colleagues have made
concerning lung function and intrauterine inflammation.
Dr. Van Marter will examine the epidemiological
information available that highlights the role of
intrauterine inflammation and subsequent neurological
development.
Overview
David P. Carlton, University of
Wisconsin, Madison, WI
Intrauterine Inflammation and Neonatal Respiratory
Function
Alan H. Jobe, Children's Hospital
Medical Center, Cincinnati, OH
Neurological Impact of Intrauterine Inflammation
Linda J. Van Marter, Harvard Medical
School, Boston, MA
Discussion
8:00am–10:00am
5159—Pulmonary
Medicine
Original
Science Abstracts - Platform Session
Moderators: Marie M. Egan and
Gregory J. Redding
9:00am–12:00pm
5203—Family
Presence for Procedures—Trying To Please Everyone
Educational
Workshop
S. Selbst, K. Bradford, A. Pratt,
S. Kost and A. Renwick, A.I. duPont Hospital for Children,
Wilmington, DE and Jefferson Medical College,
Philadelphia, PA
Family presence for procedures is a relatively new
concept in pediatric medicine. Studies have shown that
many parents prefer to be with their children when they
undergo painful or invasive procedures. Some physicians
are reluctant to accept this break with tradition and
refuse to allow parents in the room. The purpose of this
workshop is to develop an approach to successful
procedures with parental presence. Workshop leaders
(including physicians, social work, housestaff) will
address critical issues such as:
- Review of the literature—what do parents/families
want?
- What is best for the children?
- What rights do the parents have? How about the
physicians?
- Are some situations/procedures (i.e.,
resuscitations) "off-limits"?
- How can we instill confidence in trainees when the
family is watching?
- Can we preserve teaching opportunities?
- Are there safety risks? Legal issues?
- Enlisting the help of others: the role of liaisons,
social workers, therapists
Using case scenarios and role-playing, workshop leaders
will address the pros and cons of family presence for
procedures. Participants will be expected to share their
experiences and ideas to move forward with this
"unconventional" approach to medical care. It is
expected that through discussion and debate we will
implement a system for success.
9:00am–12:00pm
5206—Navigating
the Legal Waters in Clinical Medicine: A Primer for
Pediatricians
Educational
Workshop
J. Klig, M. Flomenbaum, L.
Arnold, C. Baum, K. Bechtel, K. Santucci and M. D. Baker,
Section of Pediatric Emergency Medicine, Yale-New Haven
Children’s Hospital, New Haven, CT and Office of Chief
Medical Examiner, New York, NY
The incidence of lawsuits in the United States
continues to rise. Within this environment, pediatricians
are vulnerable to litigation yet often have limited
experience and information about the legal process and
relevant principles of law. Legal dilemmas are
particularly common in acute care settings and frequently
are managed without the immediate advice of counsel. In
this workshop, participants will explore basic legal
issues that impact on medical practitioners, gain
familiarity with the litigation process and examine
strategies for testifying in court. A team of specialists
in pediatric emergency medicine, malpractice issues, court
testimony and forensic medicine will begin the workshop
with an interactive presentation of case scenarios that
highlight common statutory dilemmas, malpractice issues
and the litigation process (civil and criminal).
Participants will then view videotapes of court testimony
and discuss strategies for testifying as a fact or expert
witness. Workshop leaders and participants will conclude
the session with small group discussions of individual
experiences with civil or criminal proceedings and legal
testimony. A complete syllabus will be provided for the
workshop that is designed for use as a teaching manual.
10:15am–12:15pm
5350—Bone
Health
PAS/LWPES
Topic Symposium
Chair: Catherine Gordon,
Children's Hospital, Boston, MA
Healthy bones in childhood are of vital importance, for
they determine future bone health or disease in adulthood.
In this symposium, recent advances in the understanding of
the biology of bone formation and turnover will be
discussed. Clinical disorders affecting pediatric bone
health, and the assessment of their impact, will be
presented. The controversial issue of whether breast-fed
babies should be given supplemental vitamin D will be
considered next. Finally, recent advances in the use of
new anti-resorptive agents in the treatment of metabolic
bone diseases of children will be presented.
Basic Biology of Bone
Gerard Karsenty, Baylor College of
Medicine, Houston, TX
Disorders Affecting Pediatric Bone Health and Their
Assessment
Laura K. Bachrach, Stanford
University Medical Center, Stanford, CA
Is Vitamin D Supplementation Indicated in Breast–fed
Infants?
Thomas O. Carpenter, Yale University
School of Medicine, New Haven, CT
Bisphosphonates in the Treatment of Metabolic Bone
Disease
Frank Rauch, Shriners Hospital for
Children, McGill University, Montreal, Canada
Sponsored jointly with the Lawson Wilkins Pediatric
Endocrine Society
12:15pm–1:00pm
5525—2003
Special Presentation: Responding to the Quality Crisis
PAS
Special Presentation
Chair: Carden Johnston,
President-elect, American Academy of Pediatrics
Overview
Carden Johnston, The Children's
Hospital, Birmingham, AL
Al Aynsley-Green, National Clinical Director for
Children, Department of Health, Her Majesty's Government,
Nuffield Professor of Child Health, The Institute of Child
Health, University College London
University of London, Director of Clinical Research &
Development, Great Ormond Street Hospital for Children and
The Institute of Child Health, London
Discussion
What happens when there is a public national concern
about excessive poor outcomes at a Children's Medical
Center? This was the scenario in Bristol, England, where a
crisis in the outcome of children after cardiac surgery
developed even when well–trained, committed, concerned
clinicians and subspecialists were intimately involved.
Because of this, Professor Al Aynsley-Green, President of
the Academic Paediatricians, was appointed to the new post
of National Clinical Director for Children by Parliament
and to Chair a Children's Taskforce to answer the question
of how can such a negative experience like this be turned
into positive outcomes for children? He is charged to
secure the health and well-being of all children
throughout childhood into adult life by developing a
National Service Framework for children's services across
health, social care and education.
Lessons he has learned and experiences he has lived
will be shared to help pediatricians around the world with
our quest to improve the lives and health of children. The
goals, activities and experiences of the Children's
Taskforce, as well as six external working groups, are
exportable, practical and logical. Strategies used for
developing opportunities not only to improve child health
at a local level but also at a national level will be
discussed.
Opportunities for questions and discussion will be
provided so attendees can share effective techniques to
improve child life and health.
Sponsored jointly with the American Academy of
Pediatrics
3:00pm–5:00pm
5652—Newborn
Screening: Challenges and Controversies
PAS/LWPES
Topic Symposium
Chair: Edward R. B. McCabe, David
Geffen School of Medicine at UCLA, Mattel Children's
Hospital, Los Angeles, CA
Newborn screening programs, which have been in place
for more than 40 years, are facing major challenges.
Technological advances permit the addition of an
increasing number of diseases, including many for which
the benefits are not as clear-cut as for PKU, congenital
hyperthyroidism or sickle cell disease. As pilot projects
evaluate the addition of new tests, the importance of
involving parents in decision-making is being actively
discussed. Originally established with a "public
health imperative," the predominant state model has
been one of "informed dissent." Various models
for informing and involving parents will be discussed, as
well as their feasibility and cost. There are a number of
legislative developments under consideration locally and
nationally, and these will be presented and analyzed. As
new diseases are considered for addition to screening
batteries, it is possible to screen for disorders that
have no effective interventions defined. It is clear that
if we do not screen for these diseases, no improvements in
care will advance. We will discuss whether such arguments
justify screening. In summary, technological advances are
forcing policy decisions. We will discuss the impacts of
these challenges.
Overview of Newborn Screening in 2003
Edward R. B. McCabe, David Geffen
School of Medicine at UCLA, Mattel Children's Hospital,
Los Angeles, CA
Parental Consent: Necessary or Sufficient?
Edward R. B. McCabe, David Geffen
School of Medicine at UCLA, Mattel Children's Hospital,
Los Angeles, CA
Legislative Impacts in the Nursery
Michele Puryear, Maternal and Child
Health Bureau, Health Resources & Services
Administration, Rockville, MD
Should We Screen for Conditions We Can't Treat?
R. Rodney Howell, University of
Miami School of Medicine, Miami, FL
Roundtable Discussion
Sponsored jointly with the Lawson Wilkins Pediatric
Endocrine Society
3:00pm–5:00pm
5654—Vaccines–2003
PAS/PIDS
Topic Symposium
Chair: Stanley A. Plotkin,
Aventis Pasteur and the University of Pennsylvania,
Doylestown, PA
This symposium covers four issues in vaccination. The
American Academy of Pediatrics and CDC currently are
moving toward a recommendation for universal annual
vaccination of infants with killed or live influenza
vaccine. Why is this? Now that Rotashield is off the
market, a new rotavirus vaccine is needed and may be on
the way. Despite good protection of children by
vaccination, pertussis infections are rising in
adolescents and adults. Can they be controlled? Recent
disruptions in vaccine supply have caused pediatricians
significant problems. What are the causes and solutions?
Universal Influenza Vaccination in Children
W. Paul Glezen, Baylor College of
Medicine, Houston, TX
New Rotavirus Vaccines: After Rotashield
Paul A. Offit, Children's Hospital
of Philadelphia, Philadelphia, PA
Adolescent and Adult Pertussis Vaccination
Kathryn M. Edwards, Vanderbilt
University School of Medicine, Nashville, TN
Vaccine Shortages: Causes and Effects
Walter A. Orenstein, National
Immunization Program, Centers for Disease Control and
Prevention, Atlanta, GA
Sponsored jointly with the Pediatric Infectious
Diseases Society
3:00pm–5:00pm
5700—Allergy,
Immunology and Rheumatology
Original
Science Abstracts - Platform Session
Moderators: D. Betty Lew and John
W. Sleasman
3:00pm–5:00pm
5703—Genetics/Inborn
Errors of Metabolism
Original
Science Abstracts - Platform Session
Moderators: Gregory M. Enns and
Adam J. Jonas
3:30pm–5:30pm
5750A—Genomics
and Proteomics in Renal Development and Disease
ASPN
Symposium
Chairs: Lisa Guay-Woodford,
University of Alabama at Birmingham, Birmingham, AL and
Robert H.K. Mak, Oregon Health & Science University,
Portland, OR
The success of the Human Genome Project has created
unparallelled opportunities for global analyses of gene
expression. This approach has the potential to explain the
molecular basis of development and differentiation and to
identify both diagnostic and therapeutic targets for a
wide array of human diseases. Furthermore, since the
number of functional genes estimated from the Human Genome
Project is less than expected and may not account for the
complexity of biological pertubations, protein profiling
may be even more informative than gene or mRNA profiling.
In this symposium, we will present examples of how
advances in both functional genomics and proteomics have
impacted research in pediatric nephrology.
Biomarker Discovery: Integration of Genomic and
Proteomic Approaches
Srinivasa R. Nagalla, Oregon Health
& Science University, Portland, OR
Genomics and Proteomics in Renal Development and
Disease
Sanjay Nigam, University of
California, San Diego, CA
Arrays Amaze: The Many Faces of Allograft Dysfunction
Minnie Sarwal, Stanford University,
Stanford, CA
Gene Expression in Ischemia
Prasad Devarajan, Cinncinnati
Children's Hospital Medical Center, Cincinnati, OH
Supported by an educational grant from the Supported by
the Kidney and Urology Foundation of American (KUFA)
Tuesday, 5/6/2003
8:00am–10:00am
6100—Genetics
of Complex Disease
PAS
Topic Symposium
Chair: Judith G. Hall, The
University of British Columbia, British Columbia's
Children's Hospital, Vancouver, Canada
Complex disorders are the subject of intense focus in
human genetics research today. However, traditional
molecular genetics approaches do not allow for the
genetic-environmental interactions that must to be part of
the any model of complex disease causation. Thus this
symposium will not concentrate on SNP’s or RFLP’s or
hypothetical, unproveable mathematical models, but rather
the speakers will present some "out of the box"
approaches that will introduce attendees to newly
recognized mechanisms of disease. Each of the presenters
is convinced that his or her approach will not only play
an important role in complex disease processes, but may be
the key that opens the Pandora's box which will lead to
understanding this new area of research focus.
Introduction and Overview
Judith G. Hall, The University of
British Columbia, British Columbia's Children's Hospital,
Vancouver, Canada
Complex Genetics of Forebrain Development in Humans
Maximilian Muenke, National
Institutes of Health, Bethesda, MD
The Genetics of Complex Disorders: Lessons from Twins
Judith G. Hall, The University of
British Columbia, British Columbia's Children's Hospital,
Vancouver, Canada
Epigenetics: A New Perspective on Complex Disease
Art Petronis, Centre for Addiction
and Mental Health, University of Toronto, Canada
The Contribution of Mitochondrial Genetics to Common
Complex Disorders
Gregory M. Enns, Stanford University
Medical Center, Stanford, CA
General Discussion and Concluding Remarks
Judith G. Hall, The University of
British Columbia, British Columbia's Children's Hospital,
Vancouver, Canada
8:00am–10:00am
6125—Gastroenterology
Original
Science Abstracts - Platform Session
Moderators: David A. Gremse and
Michael R. Narkewicz
8:45am–11:45am
6204—Conflict
of Interest in Pediatric Research
Educational
Workshop
R. A. Etzel and J. Frader, APA
Research Committee
Recent financial scandals affecting successful and
respected companies have focused public attention on
conflicts of interest involving corporate officers,
stockholders, and customers. In the medical research
world, too, recent events have raised questions about
conflicts of interest affecting investigators, research
subjects and patients. Examples of the latter include the
financial interests of gene-transfer experimenters (the
Gelsinger case at the University of Pennsylvania) and
study goals versus individual subject/patient interests in
the Kennedy Krieger law suit (Hopkins lead abatement
study). Despite the potential pitfalls, pediatric
researchers receive only perfunctory training in handling
them. This workshop will provide investigators with a
framework for and experience with considering real and
perceived conflicts of interest in their research. We seek
to provide guidance and support for investigators who need
to recognize and face ethical concerns that may arise from
proposed and actual research. During the workshop, we will
describe potential conflicts of interest affecting: (1)
individual researchers, (2) institutions (hospitals and
universities), (3) research subjects/patients and (4) the
public at large, including the mass media. Short
presentations will set the stage for attendees to
participate in role playing with a variety of scenarios
and to present and discuss their own cases.
10:15am–11:45am
6300—Early
Origins of Later Life Disease
PAS/LWPES
State of the Art
Chair: Sherin U. Devaskar,
University of California, Los Angeles, CA
This session will address the topic of "perinatal
origins of adult disease." The three speakers will
address different aspects related to the early origins of
adult disease. Dr. Kent Thornburg will address the issues
related to the fetal origins of adult-onset cardiovascular
disease, Dr. Guiseppe Colasurdo will discuss the impact on
adult-onset reactive airway disease due to postnatal
exposure to environmental stimulants, and Dr. Pinchas
Cohen will cover the influence of postnatal insulin-like
growth factor on the development of carcinogenesis. All
three speakers will shed light on the mechanisms
underlying the phenomenon of "Perinatal Origins of
Adult Disease" in three different disease states
using various animal models. This session will provide
cutting edge information that will help set the stage for
future interventions targeted at the mechanisms outlined.
Fetal Origins of Later-Life Cardiovascular Disease
Kent L. Thornburg, The Heart
Research Center, Oregon Health & Science University,
Portland, OR
Gene–Environment Interactions in Early Life and
Childhood Asthma: Search For Mechanisms
Giuseppe N. Colasurdo, University of
Texas-Houston Medical School, Houston, TX
The IGF System Through Development and Its Potential
Role in Carcinogenesis
Pinchas Cohen, Mattel Children's
Hospital at UCLA, Los Angeles, CA
Discussion
Sponsored jointly with the Lawson Wilkins Pediatric
Endocrine Society
10:15am–11:45am
6301—Challenges
to Academic Medical Centers: Historical Perspectives and
Responses
PAS
State of the Art
Chair: Larry J. Shapiro,
University of California, San Francisco, CA
Academic Medical Centers (AMCs) are the result of
unique partnerships between medical schools, research
institutes, and teaching hospitals and are among the
treasures of our society. During the past century, AMCs
have evolved in response to need and opportunity as well
as to social and economic forces. They have made possible
unprecedented advances in human health, in biological
sciences, in medical technology, and in the education of a
very specialized and knowledgeable cadre of scientists,
physicians, and other health care professionals. In the
process, AMCs have grown large and ever more complex and
require continuous inputs of resources to sustain them.
Despite the apparent success of AMCs and their widely
appreciated intrinsic value, they are challenged as never
before. The diversity and complexity of missions has
created stresses upon the social order. Financial
pressures resulting from a fragmented, market driven
reimbursement system, lack of adequate attention to
preventive services and to cost of care issues, questions
about true measures of quality, ever more expensive
research infrastructure requirements, changing social
expectations combined with a relative illiteracy regarding
science and health in the general public threaten AMCs
existence as we know them. Despite fears that these
factors have the potential to create a "perfect
storm" that will derail the momentum for progress, a
detailed understanding of AMCs history, current
circumstances, and future prospects gives cause for
optimism. With thoughtful leadership, commitment to
values, and a willingness to lead change in many areas,
AMCs can continue to thrive and achieve even greater
success.
The speakers in this symposium are a practitioner of
medicine and historian who has written two very widely
read and highly acclaimed books about these issues,
Learning to Heal and Time to Heal (Kenneth Ludmerer) and a
former medical school clinician, teacher, investigator,
and dean who is now one of the nations most ardent and
eloquent spokespersons for AMCs in his role as president
of the Association of American Medical Colleges (Jordan
Cohen).
Overview
Larry J. Shapiro, University of
California, San Francisco, CA
Challenges to Academic Medical Centers: Evolution,
Nature and Potential Solutions
Kenneth M. Ludmerer, Washington
University, St. Louis, MO
21st Century Challenges for Academic Medical Centers
Jordan J. Cohen, Association of
American Medical Colleges, Washington, DC
Discussion
Supported by an educational grant from the Columbus
Children's Hospital
12:00pm–1:30pm
Poster
Session IV
Original
Science Abstracts – Poster Session
- Dysmorphology and
Teratology
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