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GENETICS*

*See also the American Society of Pediatric Nephrology Program and the LWPES Annual Meeting Program 

9:15am – 12:00pm
Mini Course
4011 Stem Cell Transplantation
Chair: Nancy Bunin, Children's Hospital of Philadelphia, Philadelphia, PA
This mini course will provide participants with an update on both the current status and future of stem cell transplant in pediatrics. Both malignant and non-malignant diseases will be addressed. Advances in graft engineering have made many of these advances possible, and this will be discussed in an overview of autologous stem cell transplant for solid tumors. Allogeneic stem cell transplant may be curative for some patients with hemoglobinopathies and metabolic diseases. Non-myeloablative approaches to hemoglobinopathies are a relatively novel approach, which may be curative without some of the short and long-term toxicities of a myeloablative regimen. Disease-specific characteristics that impact upon transplant outcome of patients with inherited metabolic storage disorders will be identified and discussed. Finally, the concepts of mesenchymal cell transplant and the future of mesenchymal cell transplant therapy will be summarized and discussed.

12:00pm – 3:00pm
Mini Course
4101 Genetics for the Pediatrician: The Intersection of General Pediatrics and Genetics
Chairs: Benjamin Siegel, Boston University School of Medicine, Boston Medical Center, Boston, MA and Jeff Milunsky, Boston University School of Medicine, Boston Medical Center, Boston, MA
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. There are new technologies in the genetic testing of children and family members that expand our ability to accurately diagnose, provide anticipatory guidance and genetic counseling to individuals and parents, so that they may make more informed reproductive choices. It is clear that pediatricians and clinical geneticists need to work collaboratively as a team to provide the most comprehensive care possible. 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. Exploration of the history, including the family pedigree, aspects of the physical exam that alerts 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 process of the clinical genetic evaluation will be explored, highlighting the ethical, legal and psychosocial issues. Current and newer genetic technologies will be reviewed. The collaborative process between the patient/family, the pediatrician, and geneticist will be examined.

12:00pm – 3:00pm
Mini Course
4104 The New Pediatrics in the Genomic Era
Chair: Isaac Kohane, Lyle Palmer and Scott Pomeroy, Children's Hospital, Boston, MA
The sequencing of the human genome and the availability of large-scale genomic measurement technologies will change the manner in which clinical care and pediatric research is conducted. We will address how these genomic technologies, bioinformatics and genetic epidemiology can be applied in these endeavors.

1:00pm – 3:00pm
LWPES Symposium
4160A LWPES Esoterix Lecture/Genetics Symposium
Genetic Testing in Endocrinology: Ethical Considerations
Norman Fost
Overview of Human Genetics/Genomics: Relevance to Pediatric Endocrinology
Barton Childs
Single Gene Defects and What They Have Taught Us About Developmental and Clinical Endocrinology
Keith Parker

3:15pm – 5:15pm
Topic Symposium
4200 Cloning and Embryonic Stem Cells
Chair: Judith Hall, University of British Columbia, Vancouver, Canada
There is enormous public interest in cloning and embryonic stem cells. This symposium will update the pediatric community on recent developments and raises a variety of policy and ethical issues.

3:15pm – 5:15pm
Topic Symposium
4202 Stroke in Childhood
Chair: Donna Ferriero, University of California, San Francisco, CA
This session will update physicians on epidemiology and risk factors for perinatal and childhood stroke. Emphasis will be placed on identifying risk factors, increasing recognition, and providing possibilities for treatment.

8:00am – 10:00am
Platform Session
5052 Genetic Basis of Disease
Chair: Cynthia J. R. Curry

1:45pm – 2:30pm
State of the Art Plenary
5590 Children as Victims of Bioterrorism: Protecting the Fragile Host
Chairs: Phyllis Dennery, Stanford University School of Medicine, Palo Alto, CA and Tina Lee Cheng, Johns Hopkins University School of Medicine, Baltimore, MD
With the recent world events and new threats of biowarfare, what should pediatricians know? Due to their size and physiology, children are at higher risk of injury from bioterrorism. This session will address the biology, clinical manifestations, and possible preventive strategies for likely biowarfare agents. The unique vulnerability of the child will be addressed.

2:00pm – 4:00pm
Topic Symposium
5700 Cancer, Blood and the Kidney: Common Themes
Chairs: Ellis D. Avner, President-Elect, American Society of Pediatric Nephrology and George R. Buchanan, President, American Society of Pediatric Hematology/Oncology
Many children with cancer, hematological disorders, or kidney disease have complex, multisystem problems. Advances in cell and molecular biology provide insights into the interrelationships of cancer, blood, and the kidney and have led to new diagnostic and therapeutic approaches for the clinician. Such approaches are reviewed in this symposium, which focuses specifically on the nephrological complications of sickle cell anemia and bone marrow transplantation, hematological complications of nephrotic syndrome, and the molecular pathophysiology of WT-1-associated disorders.

2:00pm – 4:00pm
State of the Art Plenary
5701 Children as Research Subjects: Ethical and Regulatory Issues
Chair: Myron Genel, Yale University School of Medicine, New Haven, CT
A number of highly publicized adverse events, including the death of two volunteers participating in non-therapeutic research, and the federal shutdown of research at many well-recognized academic institutions because of inadequate compliance with regulatory requirements have intensified scrutiny of the protection afforded to human subjects participating in research, including children. Furthermore a Maryland court has recently decreed that children cannot participate in research without the potential for direct benefit. As a consequence there has been increasing media attention and Congressional concern regarding the adequacy of institutional oversight and investigator attentiveness to established standards and regulations. In addition, new regulations issued under the Health Insurance Portability and Accountability Act of l996(HIPAA) threaten the capacity to conduct health services and outcomes research. These issues will be addressed in the 9th annual Public Policy Plenary Symposium in an interactive format intended to stimulate dialogue among the members of the panel and with the audience.

2:30pm – 4:00pm
State of the Art Plenary
5702 Developmental Biology and Pediatrics
Chair: David H. Rowitch, Harvard Medical School, Dana-Farber Cancer Institute, Boston, MA
Basic studies of developmental biology can have profound implications for child health and disease. In this State of the Art Plenary Plenary, pediatric investigators at the forefront of basic science will describe recent advances in our understanding of development of the central nervous system, heart and blood with implications for the pathophysiology of congenital malformations, acquired disease and pediatric cancer.

2:30pm – 4:00pm
State of the Art Plenary
5703 Insulin Resistance Syndromes
Chair: Alan Rogol, Insmed Pharmaceuticals, Inc., Glen Allen, VA and Charlotte Boney, Rhode Island Hospital, Providence, RI
Insulin resistance is the underlying factor in many of the consequences of obesity in childhood and adolescence, including ovarian hyperandrogenism, hypertension, hyperlipidemia, and Type 2 diabetes. Obesity, dyslipidemia, and Type 2 diabetes are components of SyndromeX in adults, a serious public health issue. In addition, insulin has a role in the regulation of leptin, the major signal of adiposity to the brain. Dr. Arslanian will discuss insulin resistance in polycystic ovary disease and Type 2 diabetes. Dr. Freedman will review the cardiac risk factors related to insulin resistance, and Dr. Roemmich will discuss the insulin-leptin axis in obesity and puberty.

2:30pm – 4:00pm
State of the Art Plenary
5704 Pediatric Research and the Human DNA Sequence: Approaching Defects of Host Defenses in the Genomic Era
Chairs: Jennifer M. Puck, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD and Stephen J. Chanock, National Cancer Institute, National Institutes of Health, Bethesda, MD
This session will provide a framework for understanding how genetics and genomics can accelerate progress in understanding defects in immunity and host defenses. Host defenses are used to demonstrate the general power of these technologies to elucidate pathogenetic mechanisms and predict disease susceptibility. This program will address classical and novel approaches to discovering genes underlying primary immunodeficiencies as well as characterization of modifier genes. A brief overview of the human genome, its structure, contents and relationship to genomes of other species will be presented in order to discuss current and future potential for understanding pediatric diseases and treatments. Emphasis will be placed on the continued prime importance of careful clinical observation, as well as the ethical and practical issues that genome science presents to society.

4:15pm – 6:15pm
Topic Symposium
5801 IUGR—Recent Advances
Chair: David Carlton, University of Wisconsin, Madison, WI
Intra-uterine growth restriction leads to various adaptive changes in blood flow and metabolism which leads to fetal survival in an adverse environment. This session will address these adaptive changes which occur in-utero and the long-term impact secondary to these changes in the adult IUGR progeny. Dr. Battaglia will present information related to blood flow and hepatic metabolism in the human fetus/infant, Dr. Devaskar and Dr. Hill will present work in animal models that sets the IUGR fetus towards developing diabetes as an adult. Dr. Devaskar will present changes in various organs, while Dr. Hill will focus on changes that occur in the beta-islets of the pancreas.

4:15pm – 6:15pm
Topic Symposium
5802 The Molecular Basis of Clinical Manifestations of Infection
Chair: Philip Brunell, NIAID, National Institutes of Health, Bethesda, MD

4:15pm – 6:15pm
Platform Session
5905 Genetics/Inborn Errors of Metabolism
Chairs: Brendan H. Lee and David S. Rosenblatt

4:15pm – 6:15pm
Poster Symposium
5906 Neonatal Epidemiology and Follow-Up
Chairs: Mark A. Klebanoff and Saroj Saigal

7:00am – 8:00am
Topic Symposium
6000A Public Policy 16th Annual Legislative Breakfast Symposium

Privacy & Confidentiality Regulations and Their Impact on Health Research and Academic Medicine
Jennifer Kulynych, Director, Division of Biomedical and Health Sciences Research, Association of Medical Colleges, Washington, DC

8:00am – 10:00am
Platform Session
6054 Dysmorphology and Teratology
Chair: James W. Hanson

9:00am – 12:00pm
Workshop
6106 Integrating Genetics Teaching into Daily Pediatric Practice: Do I Really Need To Be Doing That?
Daily headlines flash new genetic discoveries revolutionizing the practice of medicine! What really has changed and what do we need to know? The goals of this workshop are to emphasize the relevancy of integrating genetics into every patient encounter, enthuse participants about the impact of rapidly exploding genetic knowledge/technology on patient care and physician responsibility and discuss the core genetic competencies our students need to acquire.

10:00am – 12:00pm
ASPN Symposium
6120A Molecular Basis of Renal Development and Disease
Chairs: Ellis D. Avner, Rainbow Babies & Children's Hospital, Cleveland, OH, and Paul R. Goodyer, McGill University, Montreal Canada

10:15am – 12:00pm
Award
6150 SPR Presidential Plenary Session and Awards
SPR Presidential Plenary
Alan M. Krensky, Stanford University, Stanford, CA
Young Investigator Award
Andrew M. Scharenberg
David G. Nathan Award in Hematology–Oncology
Valerie I. Brown
E. Mead Johnson Award for Research in Pediatrics
Nancy C. Andrews
Markus Grompe

Supported by an educational grant from the Mead Johnson Nutritionals

12:00pm – 1:00pm
Alliance Club
6310A Bioethics Interest Group
Chairs: Susan Albersheim

Is It Quality Improvement OR Is It Research?
Henry L. Halliday, Belfast, Ireland
Jon E. Tyson, Houston, TX
Barbara McGillivray

12:30pm – 2:30pm
Award
6400 March of Dimes Prize in Developmental Biology Lectures
Presented by the March of Dimes Birth Defects Foundation

2:45pm – 4:45pm
Topic Symposium
6500 Antibiotic Resistance: The Race Is On (PIDS Symposium)
Chairs: Joseph W. St. Geme III, Washington University, St. Louis, MO and Richard F. Jacobs, University of Arkansas, Arkansas Children's Hospital, Little Rock, AR
In recent years there has been an explosion in the prevalence of antibiotic resistance. As a consequence, treatment decisions now are often complicated, and treatment is more and more commonly unsuccessful. In this symposium, speakers will review the epidemiology of antibiotic resistance, the current state in treating resistant Staphylococcus aureus and resistant gram-negative bacteria, and new approaches to antibiotic discovery.

2:45pm – 4:45pm
Topic Symposium
6501 Gene Nutrient Interaction
Chairs: Sherin Devaskar, Mattel Children's Hospital, University of California, Los Angeles, CA and William Hay, Jr., University of Colorado School of Medicine, Denver, CO
Recent exciting advances in defining the human genome have provided new opportunities in research for understanding the regulation of gene expression. One important focus of this area of science is the role of the metabolic milieu on gene expression and function during critical periods of development. This session will address the effect of nutrients and metabolic conditions on three aspects of metabolic gene regulation. William Heird will discuss how essential fatty acids regulate the expression and activity of genes and gene products that in turn are essential for regulation of fatty acid metabolism. These processes are fundamental during fetal and neonatal life when essential fatty acids are particularly important for structural development of the central nervous system and for the provision of key intermediary substrates that coordinate the development and activity of such diverse functions as vascular tone, inflammation, and nutrient metabolism. Christopher Newgard will discuss how aspects of the metabolic milieu affect pancreatic beta cell development and function, and then will explore molecular engineering approaches to modifying pancreatic beta cell/islet gene expression of genes that regulate insulin production and secretion. Barbara Kahn will discuss the molecular mechanisms involved in causing substrate-induced insulin resistance, reflecting on conditional gene knockout models of insulin resistance in adipose tissue and skeletal muscle. Together these talks will provide valuable information about mechanisms responsible for the effect of nutrients and nutrient metabolic products on key regulatory genes involved in growth and metabolism, leading to increased insight into exciting research opportunities in potential therapeutic manipulations of gene activity.

2:45pm – 4:45pm
Platform Session
6551 Cardiology I
Chairs: Michael Artman and Scott H. Baldwin
Includes Richard D. Rowe Award Lecture: 
Subclinical Cardiomyopathy in the Mouse Model of the Very-Long-Chain-Acyl CoA Dehydrogenase Deficiency
Vernat J. Exil

4:45pm – 6:30pm
Poster Session III (Author Attended)
– Genetics/Inborn Errors of Metabolism
– Dysmorphology and Teratology

6:45pm – 9:45pm
Alliance Society
6710A Society for Developmental Pediatrics

Developmental Outcomes After Reproductive Technologies: Relevance to Fetal Origins of Disease
Germaine Buck
Advances in Neuroprotection: From Animal Models to Clinical Trials
Rebecca Ichord

8:00am – 10:00am
Topic Symposium
7000 Advances in Autism: Etiology, Imaging and Treatment
Chair: Daniel Coury, Children's Hospital, Columbus, OH
The autistic spectrum disorders have received increased attention from the public and research communities over the past decade. Theories regarding the possible etiology of the disorder, techniques for better evaluating and diagnosing persons displaying symptoms, and evidence-based treatment options have all received attention. Panel members will present the latest thinking regarding these issues and discuss controversial findings that have confused clinicians and families.

8:00am – 10:00am
Topic Symposium
7001 Neonatal Cholestasis
Chairs: Frederick Suchy, Mount Sinai School of Medicine, New York, NY and William Berquist, Stanford University School of Medicine, Palo Alto, CA
This symposium will highlight the significant recent progress made in defining the etiology of neonatal cholestasis. The advances in this area over the past few years have been breathtaking. For example, the genetic basis of a number of important pediatric liver diseases has been defined, including mutations in transporters that result in several forms of progressive familial intrahepatic cholestasis. The viral etiology and genetic causes of some forms of biliary atresia have also been elucidated. Insight into liver development has also come form the identification of the gene responsible for Allagile’s Syndrome. Advances in these areas of research have been important in elucidating the pathophysiology of these disorders and have provided new insights into the molecular and cellular physiology of the normal hepatocyte.

8:00am – 10:00am
Poster Symposium
7060 Neuro Protection and Apoptosis
Chair: Sidhartha Tan

8:45am – 11:45am
Workshops
7104 Introduction to Molecular Techniques in Pediatric Research Training: Basic Principles of Gene Regulation and Expression Analyses
Recent advances in cell and molecular biology have revolutionized our understanding of the molecular mechanisms underlying 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 aberrant gene expression resulting in human disease. Workshop modules will focus on participant identification of several common laboratory methodologies for DNA cloning, analyses of gene regulation and expression, and histological tissue analyses. Upon completion of this workshop, participants will be able to (a) describe three fundamental steps of gene cloning and analysis, (b) define two processes that regulate transcriptional control of gene expression, (c) identify two methods for analysis of gene expression in vitro and (d) identify two histological techniques for the subcellular localization of gene expression products in vivo.
Patricia L. Ramsay, Assistant Professor of Pediatrics, Departments of Perinatal-Neonatal Medicine and Cellular and Molecular Biology, Baylor College of Medicine, Houston, TX

10:00am – 11:45am
State of the Art Plenary
7202 Pharmacogenomics: Clinical and Therapeutic Implications
Chair: James Padbury, Women & Infant's Hospital of Rhode Island, Brown University, Providence, RI
The availability of high density sequence databases for large segments of the human genome has lead to the identification of single nucleotide polymorphisms (SNPs) in many important genes. If these SNPs occur in regulatory regions of important catalytic proteins, occur in binding domains of transmembrane signaling molecules or occur in the regulatory region of a gene, they can profoundly affect the function of that gene and on an individual patient basis. It has become clear these mechanisms account for some of the highly variable, once considered "idiosyncratic", responses to drug therapy. Pharmacogenomics is the study of how genetics affects responses to drugs. Pharmacogenomics holds the promise that drugs might one day be tailor-made for and adapted to each person's own genetic makeup. In this symposium speakers will present prominent examples of how pharmacogenomic implications affect the biology of disease and therapy from the fields of behavioral genetics and sychotherapeutics, cancer chemotherapy and the treatment of asthma. The perspectives presented will help the attendee understand a pathobiological and clinically sound approach to these disorders. The discussion will include basic science, clinical research and an industry perspective on this rapidly emerging area of importance.

1:45pm – 3:45pm
Hot Topic
7701 The Cytokine Controversy
Chair: William Keenan, St. Louis University, St Louis, MO
Recent evidence suggests that the inflammatory response of the fetus can result in brain and lung injury pre and postnatally. Are cytokines the mediators of injury or mere bystanders? What therapeutic interventions can protect the neonate? Is it already too late by birth? The speakers will present both the pros and cons of the inflammatory response and a panel discussion will attempt to summarize available information and suggest questions and potential strategies for future research.

1:45pm – 3:45pm
Hot Topic
7702 Disaster Preparedness: Beyond 9/11
Chairs: Tina L. Cheng, Johns Hopkins University School of Medicine, Baltimore, MD; Danelle Laraque, Mount Sinai School of Medicine, New York, NY; and Benard Dreyer, New York, NY
The impact of 9/11 and the public health aftermath have affected us personally and professionally. This session will address what the child health professional needs to know regarding disaster planning and preparedness. Speakers will review and provide updates on national and regional systems for emergency management and how those systems interact with local public health agencies, the pediatrician's role in the community's preparedness including what the school system, the pediatric office and the patient should be doing to prepare and respond, recognition and management of chemical and biologic agents of terrorism, and the psychological reactions to disaster and stress.

Disaster Planning and Preparedness for Child Health Professionals
George L. Foltin, New York University School of Medicine and Bellevue Hospital Center, New York, NY
Biologic Agents of Terrorism
Anne Fine, New York City Department of Health, New York, NY
Chemical Agents of Terrorism
Fred Henretig, University of Pennsylvania School of Medicine and Children's Hospital of Philadelphia, Philadelphia, PA
Helping Children Cope with Terrorism and Disasters
David J. Schonfeld, Yale University School of Medicine, New Haven, CT
Discussion