2001, First -ever NIH-PRF Workshop

Joint Workshop a Resounding Success!

The Progeria Research Foundation, jointly with the National Institutes of Health (NIH), held a first-of-its-kind international workshop on Hutchinson-Gilford Progeria Syndrome in Bethesda, Maryland on November 28 and 29, 2001.

Forty-six scientists were riveted to the presentations given by leaders from a variety of areas of clinical and research-based expertise, including cardiology and arteriosclerosis, bone metabolism, molecular, cellular and developmental biology, immunology, endocrinology, dentistry, geriatrics and genetics.

• National Institutes of Child Health and Human Development
• National Heart, Lung and Blood Institute
• National Institute of Arthritis and Musculoskeletal and Skin Diseases
• Национальный институт рака
• National Human Genome Research Institute

The ultimate goal of the workshop was to discuss and identify promising areas of research that could provide information about the root causes (genetic, biochemical, and physiological) of Hutchinson-Gilford Progeria Syndrome by examining clues from a number of organ systems.

The kickoff portion of the workshop was led by George M. Martin, MD, Professor of Pathology, Adjunct Professor of Genetics, and Director of the Alzheimer Disease Research Center, University of Washington School of Medicine in Seattle, WA. Dr. Martin directed the research project that led to the discovery of the gene for Werner’s syndrome, an adult aging syndrome. He spoke about thecommon themes among progeria syndromes.

An overview of Progeria and summary of research findings to date was then presented by У. Тед Браун, доктор медицины, доктор философии, Chairman of the Department of Human Genetics, Director of the George A. Jervis Clinic and Interim Director, all of the New York State Institute for Basic Research in Developmental Disabilities in Staten Island, NY. Dr. Brown is considered the leading expert on Hutchinson-Gilford Progeria Syndrome, and is an active member of PRF’s Board of Directors and Medical Research Committee.

The following day, Anthony Weiss, MD, Associate Professor and Director of the Molecular Biotechnology Program at the Virtual Department of Molecular Biotechnology, School of Molecular and Cellular Biosciences at the University of Sydney, Australia presented his findings on Glycosylation in cultured Hutchinson-Gilford Progeria skin fibroblasts. Dr. Weiss has published the greatest number of peer review basic science articles on Progeria over the past twelve years.

Careful evaluations of bone pathology, as reviewed by Frederic Shapiro, M.D. ,Associate Professor of Orthopedic Surgery at Boston Children’s Hospital, suggested that abnormal bone development, rather than premature bone aging and osteoporosis, accompany this syndrome. He identified this as an area which needs further research.

The relationship of Hyaluronic Acid to Progeria, a PRF-funded project, was then presented by Лесли Б. Гордон, доктор медицины, доктор философии, Instructor in Pediatrics at Hasbro Children’s Hospital in Providence, Rhode Island and Research Associate at Tufts University School of Medicine in Boston, MA. Dr. Gordon tested the previously published findings that the pathomechanism of Progeria, particularly the heart disease, involves Hyaluronic Acid.

Thomas Wight., PhD, Professor of Pathology in the Department. of Vascular Biology at the Hope Heart Institute in Seattle, WA. discussed clues from the field of artherosclerosis. Dr. Wight addressed the potential role of proteoglycans and the extracellular matrix in the vascular disease accompanying Progeria.

Leslie Smoot, MD then discussed clues from the cardiovascular system. Dr. Smoot is a Pediatric Cardiologist and Director of Pediatric Cardiovascular Genetics Registry and currently involved in cardiomyopathy and cardiac transplant clinical service, all at Children’s Hospital in Boston, MA. She is also an Instructor of Pediatrics at Harvard Medical School. She presented evidence that the actual pathology of the cardiovascular lesions is not well characterized. Careful comparison of vascular changes in Progeria with typical heart disease was identified as an area for further research.

Доктор Лесли Гордон then announced the creation of The PRF Cell Bank и Progeria Database that will provide analysis of these children’s collated, detailed medical information and serve as a resource for use by health care professionals, medical researchers, and families of children with Progeria in order to gain new insights into the nature of HGPS and into the nature of other diseases such as atherosclerosis and arthritis. Both projects were met with great interest by participants. In his Summary and General Discussion at the end of the workshop, Dr. George Martin stated, “The database is probably the single most important thing to come out of this meeting, and I congratulate Leslie and her colleagues for doing that.”

Jouni J. Uitto, MD, PhD, Professor and Chair of the Department of Dermatology and Cutaneous Biology, and Director of the Jefferson Institute of Molecular Medicine at Jefferson Medical College in Philadelphia, PA, reported on clues from the skin and the observations on early scleroderma-like skin changes. Dr. Uitto’s research focuses on the molecular mechanisms of aging in the skin.

Gary E. Wise, PhD, Professor and Head of the Department of Comparative Biomedical Sciences at the Louisiana State University School of Veterinary Medicine, discussed the potential causes for delayed tooth eruption in Progeria patients. Dr. Wise suggests that problems with tooth eruption may be part of the connective tissue and bone defects in HGPS.

A particularly exciting component of the workshop was the Genetics Round Table discussion, led by Dr. Francis Collins, Director of the National Human Genome Research Institute. Seven of the participants presented current and future research strategies for exploring the biological basis of disease and finding the gene(s) for Progeria. The molecular basis of Progeria has remained unknown, and the mutated gene has not been identified. Three of the research groups who attended the workshop are actively conducting projects towards establishing the genetic basis of Progeria. NIH currently funds one of these groups, and PRF funds the other two.

Jouni J. Uitto, MD, PhD, authored workshop summaries which appeared in the April issue of TRENDS in Molecular Medicine (Vol. 8 No.4 April 2002), pp. 155-157, and the May issue of Trends in Endocrinology and Metabolism Vol 13 No.4 May/June 2002, pp. 140-141.

Скотт Д. Бернс, доктор медицины, магистр общественного здравоохранения
National Director, Program Planning and Community Services, March of Dimes Birth Defects Foundation; Adjunct Associate Professor of Pediatrics, Brown University School of Medicine

Richard W. Besdine, MD, FACP, AGSF
Director of the Center for Gerontology and Health Care Research, Professor of Medicine, first occupant of the Greer Chair in Geriatrics and Chief of the Division of Geriatrics in the Department of Medicine at Brown University School of Medicine

У. Тед Браун, доктор медицины, доктор философии
Chairman of the Department of Human Genetics, Director of the George A. Jervis Clinic and Interim Director, all of the New York State Institute for Basic Research in Developmental Disabilities in Staten Island, New York. Dr. Brown is considered the leading expert on Hutchinson-Gilford Progeria Syndrome.

Ekaterina F. Chumakov, Ph.D.
Staff Scientist, Section on DNA Replication, Repair& Mutagenesis (SDRRM), Division of Intramural Research at the National Institutes of Child Health and Human Development

Francis S. Collins, MD, PhD
Director of the National Human Genome Research Institute, a division of the National Institutes of Health that is responsible for the Human Genome Project. His research laboratory was responsible for identifying the genes responsible for Cystic Fibrosis, Neurofibromatosis, and Huntington’s disease.

Antonei B. Csoka, PhD
Post-doctoral fellow whose work is devoted solely to research in HGPS in the laboratory of Dr. John Sedivy at Brown University in Providence, RI

Edward Fisher, MD, PhD
Professor of Biochemistry, Molecular Biology, Pediatrics and Cell Biology/Anatomy at Mt. Sinai School of Medicine, Department of Pediatrics, whose clinical interest is lipid disorders in adults and children and whose specialty is Pediatric Cardiology.

Thomas W. Glover, PhD
Professor, Department of Pediatrics and Professor of Human Genetics, University of Michigan, Ann Arbor, MI whose research has included studies of chromosome instability and DNA repair, succeeding in identifying or cloning a number of human disease genes including that for Menkes syndrome, a common form of Ehlers-Danlos syndrome, and hereditary lymphedema.

Stephen Goldman, PhD
Health Science Administrator at the National Institutes of Health – National Heart, Lung and Blood Institute, Division of Heart and Vascular Disease

Лесли Гордон, доктор медицины, доктор философии
Instructor in Pediatrics at Hasbro Children’s Hospital in Providence, Rhode Island and Research Associate at Tufts University School of Medicine in Boston, Massachusetts, where she conducts her research on HGPS

Кристина Харлинг-Берг, доктор философии
Assistant Professor of Pediatrics and Assistant Professor of Immunology at Brown University School of Medicine in Providence, RI and Memorial Hospital in Pawtucket, RI

Ingrid Harten, MS
Research Assistant at Tufts University, Department of Anatomy and Cell Biology, whose work consists of conducting initial experiments in a series of studies designed to develop a treatment for the atherosclerosis associated with HGPS

Моника Кляйнман, доктор медицины
Associate Professor, Specialist in Pediatric Critical Care and Neonatology, Associate Director of the Multi-Disciplinary Intensive Care Unit, Medical Director of the Transport Program, and Assistant in Anesthesia, all at Children’s Hospital in Boston, Massachusetts.

Paul Knopf, PhD
Professor of Immunology at Brown University in Providence, RI, and The Charles A. & Helen B. Stuart Professor of Medical Science, Department of Molecular Microbiology & Immunology at Brown University

Joan M. Lemire, PhD
Research Assistant Professor in the Department of Anatomy and Cellular Biology at Tufts University School of Medicine in Boston, whose previous research has focused on liver carcinogenesis and on cell types and extracellular proteoglycans in cardiovascular biology. Current research involves the role of hyaluronan and a cell surface receptor, EMMPRIN, in cancer.

Isabella Liang, PhD
HSA, Heart Development, Function and Failure Research Group, Heart Research Program, Division of Heart and Vascular Diseases, National Heart, Lung and Blood Institute

Martha Lundberg, PhD
HSA, Bioengineering and Genomic Applications Research Group, Clinical and Molecular Medicine Program, Division of Heart and Vascular Diseases, National Heart, Lung and Blood Institute

George M. Martin, M.D.
Professor of Pathology, Adjunct Professor of Genetics, and Director of the Alzheimer Disease Research Center, University of Washington School of Medicine in Seattle, WA. Dr. Martin directed the research project which lead to the discovery of the gene for Werner’s syndrome.

Фрэнк Ротман, доктор философии
Professor of Biology and Provost, Emeritus at Brown University in Providence, RI. In the late 1980s he carried out research on aging in the roundworm, Caenorhabditis elegans. As Professor Emeritus, he has engaged in collaborative studies on the biology of aging, with a focus on Progeria.

John Sedivy, PhD
Director of the Center for Genetics and Genomics at Brown University and Professor of Biology and Medicine in the Department of Molecular Biology, Cell Biology and Biochemistry at Brown University, where he teaches genetics and supervises a research group working on mechanisms of aging of human cells and tissues.

Frederic Shapiro, M.D.
Associate Professor of Orthopedic Surgery at Boston Children’s Hospital, whose research has revolved around bone metabolism and bone growth issues such as in Osteogenesis Imperfecta.

Bryan Toole, PhD
Professor in the Department of Anatomy at Tufts University School of Medicine in Boston, MA, the George Bates Professor of Histology and Director of the Ph.D. Program in Cell, Molecular and Developmental Biology at the Tufts Health Sciences Campus. His laboratory focuses on hyaluronan-cell interactions in morphogenesis and cancer, and HGPS.

Dr. Bernadette Tyree
Health Scientist Administrator, Cartilage and Connective Tissue Program, Rheumatic Diseases Branch National Institute of Arthritis and Musculoskeletal and Skin Diseases

Jouni Uitto, MD, PhD
Professor and Chair, Department of Dermatology and Cutaneous Biology, and Director, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Philadelphia, PA. Dr. Uitto’s research focuses on the molecular mechanisms of cutaneous aging.

Huber R. Warner, PhD
Associate Director, Biology of Aging Program, National Institute on Aging. Dr. Warner is the NIH representative responsible for organizing this workshop along with The Progeria Research Foundation

Momtaz Wassef, Ph.D.
Leader, Atherosclerosis Research Group, Vascular Biology Research Program, Division of Heart and Vascular Diseases, National Heart, Lung and Blood Institute

Anthony Weiss, MD
Associate Professor and director of the Molecular biotechnology program, Virtual Department of Molecular Biotechnology, School of Molecular and Cellular Biosciences, University of Sydney, Australia. Dr. Weiss has published the greatest number of peer review basic science articles in HGPS over the past twelve years.

Thomas Wight, PhD
Professor of Pathology, Department of Vascular Biology, Hope Heart Institute, Washington Dr. Wight’s long-standing interest in the role of proteoglycans and hyaluronan in vascular biology has established him as one of the world’s leading experts in this field of research. Dr. Wight serves on the editorial boards of the journals Arteriosclerosis, Thrombosis and Vascular Biology; the Journal of Histochemistry & Cytochemistry; the Glycoconjugate Journal, and the Archives of Biochemistry and Biophysics.

Gary E. Wise, PhD
Professor and Head of the Department of Comparative Biomedical Sciences, Louisiana State University School of Veterinary Medicine. His research includes the study of the molecular biology of tooth eruption.

Roger Woodgate, Ph.D.
Head, Section on DNA Replication, Repair& Mutagenesis (SDRRM), Division of Intramural Research, National Institutes of Child Health and Human Development

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