Pediatric Academic Societies and American Academy of Pediatrics Joint Meeting May 12-16, 2000 Hynes Convention Center, Boston

Friday, May 12

1:00 pm - 4:00 pm - MINI COURSES

¨Genetics for the Practicing Pediatrician
Chair: Judith G. Hall, University of British Columbia, Vancouver, Canada

This is a session aimed at helping the practicing primary care pediatrician integrate the new developments in genetics into their practice. During the last few decades, there has been amazing progress made using molecular techniques to the understanding of biology. Many of these findings have direct application to the care of patients and families. The American Academy of Pediatrics Committee on Genetics has developed practice guidelines for common genetics disorders. The course will be practical and presented in understandable language. It will describe new genetic developments that should be part of pediatric practice.

Evaluation of the Dysmorphic Child
Cynthia Curry, Valley Children’s Hospital/UCSF, Fresno

New Developments in Newborn Screening
Harvey Levy, Children’s Hospital, Boston

The Use of Genetic Consultants and Clinical Guidelines for Genetic Disorders
H. Eugene Hoyme, Stanford University School of Medicine, Palo Alto

4:15 pm - 6:15 pm - POSTER SESSION I AND OPENING RECEPTION

Saturday, May 13

8:00 am - 10:00 am - TOPIC SYMPOSIA

¨Computers in Medicine: From the Health Center to the Home to the Genome
Chair: Gary Fleisher, Children’s Hospital, Harvard Medical School, Boston

From molecular biology to clinical care, computers will play a decisive role in pediatrics in the next millennium. This symposium will address the technological solutions for the storage and dissemination of medical information. The translation of basic scientific discoveries into clinical practice and issues related to social concerns, access, privacy, and security will be discussed.

Information Infrastructure for the Next Generation Medicine
Isaac S. Kohane, Harvard Medical School, Boston

Health Applications on the Web: Access, Privacy, and Safety
Kenneth D. Mandl, Children's Hospital, Boston

Bioinformatics in Support of Molecular Medicine
Russ B. Altman, Stanford University, Stanford

¨Genetics of Sexual Differentiation and Gender Assignment
Chair: Kenneth Copeland, University College of Medicine, Oklahoma City

This session will cover recent advances in molecular genetics relevant to sexual differentiation and their impact on management of children with ambiguous genitalia.

Genes, Gonads and Germ Cells
David Page, Howard Hughes Medical Institute, Whitehead Institute of Biomedical Research, Cambridge

Cell Signaling in Sexual Differentiation
Andrew P. McMahon, Harvard University, Boston

"Genes to Gender: Impact of Molecular Biology on Management of Ambiguous Genitalia"
Charmian Quigley, Eli Lilly and Co. and Indiana University, Indianapolis

Sponsored Jointly with the Lawson Wilkins Pediatric Endocrine Society and the AAP Section on Endocrinology

8:00 am - 10:00 am - SUBSPECIALTIES/THEMES (Original Science Abstract Programs)

• Fetal and Neonatal Nutrition and Metabolism I (Poster Symposia)
• The Ethics and Genetics of Inborn Errors of Metabolism (Platform)

10:15 am - 12:15 pm - TOPIC SYMPOSIUM

¨Ion Channels and Disease
Chair: Lisa M. Guay-Woodford, University of Alabama at Birmingham

The highly regulated transport of sodium, potassium, and chloride ions is essential in the proper functioning of a diverse array of organ systems. Single gene defects which disrupt these transport processes underlie a variety of renal, cardiac, and neuromuscular disorders. This symposium will discuss how recent elucidation of these genetic defects provide insights into the molecular pathogenesis of these disorders and suggest roles for these transport pathways in more complex disorders such as hypertension, kidney stone formation, acquired cardiac arrhythmias and seizure disorders.

Sodium Channels: Function and Dysfunction
Alfred L. George, Vanderbilt University Medical Center, Nashville

Chloride Channels - The Role of Mutations in Renal and Neuromuscular Disorders
Rajesh Thakker, Nuffield Department of Med., University of Oxford , Oxford, United Kingdom

Potassium Channels: Structural Basis for Function and Disease
Stephen A.N. Goldstein, Yale University School of Medicine, New Haven

Sponsored Jointly with the American Society of Pediatric Nephrology

10:15 am - 12:15 pm - SUBSPECIALTIES/THEMES (Original Science Abstract Program)

• Genetic Basis of Metabolic Nutritional Disorders (Platform)

1:30 pm - 2:30 pm - APS PRESIDENTIAL PLENARY - HOWLAND AWARD
Presidential Address - Rebecca H. Buckley, Duke University School of Medicine
John Howland Award Presentation - Samuel A. Katz

2:30 pm - 3:00 pm - JOSEPH W. ST. GEME, JR. LEADERSHIP AWARD
Joseph W. St. Geme, Jr. Award Presentation - Evan Charney, Dept. of Pediatrics, University of Massachusetts Medical Center, Shrewsbury
St. Geme Awardee Introduced by: Kenneth B. Roberts, Professor of Pediatrics, University of North Carolina School of Medicine, Greensboro

Presented on behalf of the American Pediatric Society, American Academy of Pediatrics, American Board of Pediatrics, Ambulatory Pediatric Association, Association of Pediatric Program Directors, Association of Medical School Pediatric Department Chairman and Society for Pediatric Research

5 pm - 7:15 pm - POSTER SESSION II

Sunday, May 14

8:00 am - 10:00 am - SUBSPECIALTIES/THEMES (Original Science Abstract Programs)

• Genetic Mechanisms of Disease and Aberrant Development (Platform)
• Hematology and Oncology (Platform)
• Neonatology: Disease-Oriented Research I (Platform)

10:15 am - 12:00 noon - SPR PRESIDENTIAL PLENARY & AWARDS AND E. MEAD JOHNSON AWARD LECTURES

Presidential Address: Thomas Hazinski,Vanderbilt University Medical Center

Student Awards: Kyle Cowan, Aaron M. Milstone, Christine Siambani

House Officer Awards: Douglas D. Fraser, Paul J. Galardy, Matthew A. Saxonhouse

Fellow Basic Awards: Christopher E. Belcher, Elif Erkan, Syed Zaidi

Fellow Clinical Awards: Michael J. Ackerman, Okan Elidemir, Mika Ramet

David Nathan Award: Lisa Wang

Young Investigator Award Lecture:
Brendan Lee - Identification of Molecular Genetic Defect for Cleidocranial Dysplasia & Nail-patella Syndrome

E. Mead Johnson Award Lectures:
Mark Kay - Seminal Scientific Contributions to the Field of Hepatic Gene Therapy
Gregg Semenza - Molecular Response to Hypoxia

1:00 pm - 2:15 pm - MARCH OF DIMES PRIZE IN DEVELOPMENTAL BIOLOGY (Fifth Annual Lecture)
Presented by the March of Dimes

Genetic Control of Programmed Cell Death in C.elegans
H. Robert Horvitz, Professor of Biology, Howard Hughes Medical Institute Investigator, Massachusetts Institute of Technology, Cambridge, MA

1:15 pm - 2:00 pm - AAP PRESIDENTIAL PLENARY & JACOBI AWARD
Presidential Address: Donald E. Cook, American Academy of Pediatrics, Elk Grove Village
Jacobi Award: Catherine DeAngelis

2:30 pm - 4:30 pm - SUBSPECIALTIES/THEMES (Original Science Abstract Programs)

• Gene Regulation I (Platform)
• Neonatal Immunology and Hematology I (Platform)
• Oxidants/Antioxidants: Brain, Lung and Basic Mechanisms (Poster Symposia)

4:45 pm - 6:45 pm - POSTER SESSION III

Monday, May 15

8:00 am - 10:00 am - SUBSPECIALTIES/THEMES (Original Science Abstract Programs)

• Allergy, Immunology and Rheumatology I (Platform)
• Cardiology: Genetic Basis of Heart Disease and Development (Platform)
• Sickle Cell and Endothelial Cell Interface (Poster Symposia)

8:00 am - 10:00 am - RICHARD E. ROWE AWARD
Richard E. Rowe Award Presentation - Mark W. Russell:
In vivo Transactivation of the alphaB Crystallin Promoter by Cardiac Transcription Factors Involved in Early Heart Development

8:30 am - 12:30 pm - APA PRESIDENTIAL PLENARY & ARMSTRONG LECTURE
Presidential Address: Ellen F. Crain, Albert Einstein College of Medicine, Bronx
Armstrong Lecture: Greenpeace

10:15 am - 11:45 am - STATE OF THE ART PLENARY

¨Gene-Based Understanding of X-linked Primary Immunodeficiency Disorders
Chair: Rebecca H. Buckley, Duke University Medical Center, Durham

This session can bring all pediatricians up-to-date on the astounding information explosion in this area and point out how correction may be possible for most of these diseases for which the molecular basis is known. It will also emphasize the key role pediatricians have in identifying these patients prior to the development of serious infections.

X-linked Severe Combined Immunodeficiency
Jennifer M. Puck, National Human Genome Research Institute/NIH, Bethesda

Wiskott-Aldrich Syndrome
Hans D. Ochs, University of Washington School of Medicine, Seattle

X-linked Lymphoproliferative Disease
Cox Terhorst, BIDMC/Harvard Medical School, Boston

Supported by the National Institute of Child Health & Human Development

¨Gene Defects and Kids’ Heart Disease
Chair: Arnold W. Strauss, Washington University and St. Louis Children's Hospital, St. Louis

Until 10 years ago, etiologies and pathogenesis of heart disease in children were poorly understood. This symposium focuses on recent discoveries of gene defects in children with congenital heart disease, abnormalities of situs determination, arrhythmias, and cardiomyopathy. The causes of many forms of pediatric heart disease as single gene defects at multiple loci will be discussed.

Genetic Causes of Congenital Heart Disease
Christine Seidman, Howard Hughes Medical Institute/Brigham and Women's Hospital, Boston

Genes and Left-Right Asymmetry
Martina Brueckner, Yale School of Medicine, New Haven

Genes Causing Pediatric Arrhythmias
Jeffrey A. Towbin, Baylor College of Medicine, Texas Children's Hospital, Houston

¨Pediatrics in the New Millennium: Compelling Issues in Public Policy - 7th Annual Public Policy Plenary
Chair: Myron Genel, Yale University School of Medicine, New Haven

This is the 7th annual Public Policy Plenary Symposium organized and sponsored by the Public Policy Council, which coordinates public policy activities for the APS, SPR and AMSPDC, in collaboration with the APA Public Affairs Committee. The year 2000 program will look forward to the new millennium and broadly examine the outlook for children’s health in three vital areas: (1) access to health care (2) testing and access of children to drugs and devices and (3) the pipeline for pediatric physician-investigators and the future of academic pediatrics. We have set aside significant time at the conclusion of the speakers’ formal presentations to permit interactive dialogue between members of the panel and the audience.

Children’s Access to Health Care - Removing the Financial Barrier
Joel J. Alpert, Immediate Past President of the American Academy of Pediatrics and Past President of the Ambulatory Pediatric Association, Boston University School of Medicine

Increasing Pediatric Access to Medical Therapies
Jane E. Henney, Commissioner, Food and Drug Administration, Rockville

The Pipeline of Physician-Scientist in Pediatrics
Leon E. Rosenberg, Princeton University; Lasker Trust/Funding First; and Former Dean, Yale University School of Medicine

Supported in part by an educational grant from the Columbus Children's Hospital, Columbus, Ohio

1:00 pm - 3:00 pm - TOPIC SYMPOSIUM

¨Novel Treatments for Blood Disease
Chair: Alan D. D’Andrea, Dana Farber Cancer Institute, Boston

In this session we will evaluate new clinical trials and novel approaches in gene therapy and immunotherapy for pediatric blood diseases. While these approaches are applicable to rare subpopulations of patients, over time the insights gained in these studies may be adapted to patients in the general population. In the process of designing and executing these clinical trials, these pediatric investigators have made many basic discoveries related to viral vector design and the regulation of the human immune system.

Gene Therapy for Hemophilia
Mark Kay, Stanford University, Stanford

Immune Modulation in Bone Marrow Transplantation
Eva Guinan, Children's Hospital, Boston/Dana-Farber Cancer Institute, Boston

Gene Therapy for Primary Immunodeficiencies
Robertson Parkman, Children's Hospital, Los Angeles

1:00 pm - 3:00 pm - SUBSPECIALTIES/THEMES (Original Science Abstract Programs)

• Allergy, Immunology and Rheumatology II (Poster Symposia)
• Neonatology: Disease-Oriented Research II (Platform)

3:15 pm - 4:45 pm - STATE OF THE ART PLENARY

¨Achieving Good Health For the World’s Children
Chairs: Errol R. Alden, American Academy of Pediatrics, Elk Grove Village, and Jane Schaller, New England Medical Center, Boston

The health of the world’s children is important to the future of the world. This plenary session will explore basic principles of world health for children and suggest ways in which pediatricians all over the world can work together to achieve better and brighter futures for all of our children. The concept of a world community of pediatricians bearing a collective responsibility for the health of children will be explored. Existing standards will be discussed, including training and professional standards of our pediatric profession around the world, concepts of medical ethics which govern our behavior as physicians, and concepts of children’s rights which exist in international law and define world standards for the treatment of children. Adopting a broad definition of child health which includes physical, mental, and social health, the disease burdens of children around the world now and in the 21st century will be presented, along with some concepts of how these burdens might be lessened. Finally, the roles that pediatricians can play in humanitarian response to emergencies and disasters will be presented. Time will be allowed for discussion from members of the audience, who are encouraged to think about these issues in advance and be prepared to add their voices to the discussion.

World Community: Children and Pediatricians, A Collective Responsibility
Robert Haggerty, University of Rochester School of Medicine & Dentistry, Rochester

World Standards: Professional Standards, Medical Ethics, Children’s Rights
Jane G. Schaller, New England Medical Center, Boston

World Health: Disease Burdens for Children Now and in the 21st Century
Jerry Coovadia, University of Natal, South Africa

World Disasters: the Special Needs of Children
Karen Olness, Rainbow Babies and Children’s Hospital, Cleveland

Supported by an educational grant from Johnson & Johnson Pediatrics Institute

¨Mechanisms of Asthma and Other Allergic Diseases
Chair: Lanny J. Rosenwasser, University of Colorado Health Science Center and the National Jewish Hospital and Research Center

This session will present the latest information on 1) the role of the mast cell in asthma and other allergic diseases 2) the role of 1L-13 in asthma and 3) the genetics of asthma and other allergic diseases.

Update on Mast Cell Biology and Its Role in Allergic Diseases
Joshua Boyce, Harvard Medical School, Boston

Role of 1L-13 in Asthma
Marsha Wills-Karp, Johns Hopkins University, Baltimore

Genetics of Asthma and Other Allergic Diseases
Lanny Rosenwasser, University of Colorado Health Science Center and the National Jewish Hospital and Research Center

¨Molecular Genetics in Pediatric Practice
Chairs: Michael M. Kaback, Children’s Hospital and Health Center and the University of California, San Diego and Judith G. Hall, University of British Columbia, Vancouver

This session will address some of the dramatic recent developments in molecular genetics and their relevance to modern pediatric practice. These powerful and pervasive technologies will be addressed from a "forest" point of view, indicating how these innovations may impact diagnosis, treatment, and counseling in various sectors of pediatric practice. Molecular genetic methodologies have implications not only for classic inborn errors of metabolism and clearly defined genetic disorders, but are now becoming pivotal in the characterization of presymptomatic conditions and in defining predispositions to many common disorders which manifest both in childhood and/or adult life. The implications of these technologic advances are vast. From oncology to infectious disease--from congenital malformations to behavioral aberrations--these powerful new technologies are altering, and will continue to alter, the nature of medical practice.

Introduction and Overview
Judith G. Hall, University of British Columbia, Vancouver

The Technology of Molecular Genetics: Diagnosis, Prognosis, Intervention
Bradley Popovich, Oregon Health Science University, Portland

Molecular Mechanisms of Genetic Disease
David Valle, John Hopkins University School of Medicine, Baltimore

Molecular Genetics: Applications to and Implications for Patient Care
Larry J. Shapiro, University of California, San Francisco

5:00 pm - 7:00 pm - POSTER SESSION IV

Tuesday, May 16

9:00 am - 12:00 noon - WORKSHOP

TICKETS NECESSARY FOR THIS EVENT. NO FEE IS REQUIRED BUT PRE-ENROLLMENT IS ESSENTIAL TO ATTEND.

WS50 Newborn Screening: Controversies And Changes
Universal screening of newborn infants for treatable genetic and metabolic disorders is a cost effective program which has reduced pediatric morbidity and mortality substantially. This panel discussion will review the accomplishments of newborn screening. The issues of informed consent, privatization, and new technologies will be reviewed. Extension of newborn screening to disorders such as cystic fibrosis will be discussed.

This program will prepare the pediatrician to understand the change in newborn screening programs which will occur in the coming decade. As new disorders are added and technologies change, the pediatrician will be prepared to interpret results, participate as a member of the treatment team, and contribute to public debate of ethical issues.

E. McCabe, UCLA School of Medicine; Los Angeles; B. Therrell, University of Texas Health Sciences Center at San Antonio, San Antonio

10:15 am - 12:15 pm - POSTER SESSION V

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Last Modified: April 06, 2000