Xeroderma Pigmentosum Society
A night camp for children with life-threatening sun sensitivity
Scientific Advisory Board
James E. Cleaver, Ph.D.
Professor of Dermatology and Pharmaceutical Chemistry, University of California San Francisco
UCSF Comprehensive Cancer Center Membership; Leader, Cutaneous Oncology Program
Member, UCSF Biomedical Sciences Program (BMS) and Herbert Boyer Program in BiologicalSciences (PIBS)
In 1999 James E. Cleaver, PhD, a University of California San Francisco scientist whose work has profoundly affected the modern understanding of cancer has been elected to the National Academy of Sciences, the highest honor the nation’s scientists can bestow on their peers. Dr. Cleaver has over 350 publications throughout his career, many of them on topics related to DNA repair, UV photobiology, and xeroderma pigmentosum in particular. Reference complete biosketch.
A major research interest is the condition known as xeroderma pigmentosum. He has used this disease to clarify how ultraviolet light damages DNA, to understand the mechanisms of DNA repair, and identify the genes involved in this process. For a complete overview of Professor James Cleaver’s current research projects, please visit this site.
Charter member of XP Society panel of Scientific Advisors
Dr. Cleaver has been closely associated with the Xeroderma Pigmentosum Society since our formation. Serving as a guest lecturer, meeting with families at Camp Sundown, he has been an outstanding resource. The XP Society is proud to have been able to fund a number of his research projects. Please see www.xpmutations.org
Professor Brian Diffey
Brian Diffey is Head and Clinical Director of the Regional Medical Physics Department, a Clinical Directorate of the Newcastle-upon-Tyne Hospitals NHS Trust; Professor of Medical Physics in the University of Newcastle and also holds a personal Professorship in Photobiology within the Medical School at Newcastle.
Over the past 30 years Brian Diffey has developed and maintained an active internationally respected research program in skin photobiology, particularly in the measurement of natural and artificial ultraviolet radiation, its effects in normal and diseased human skin and ways to minimise excessive exposure. His work includes:
Investigation and treatment of skin diseases provoked or exacerbated by sunlight
Quantitative studies on ultraviolet-induced erythema in human skin
Personal dosimetry studies of human exposure to sunlight
Photoprotection, with particular reference to factors affecting the performance of sunscreens
Skin cancer epidemiological modelling
Recent Distinctions include:
Principal advisor the Cancer Research UK SunSmart programme
Expert Member of European Commission Scientific Committee on Consumer Products – UV radiations
Scientific Advisor to the Xeroderma Pigmentosum Support Group (UK)
Member of International Agency for Research on Cancer working group on the Evaluation of Sunscreens as Preventive Agents in Skin Cancer
Awarded the 1999 Medal presented by the Society of Cosmetic Scientists for innovative contributions to the suncare industry.
Member of Department of the Environment UK UVB Impacts Review Group
Member of the UK Department of Health Commissioning Group on skin cancer research
Joseph Malak, MD
TLC Pediatrics, The Atrium at Saint Francis, 1 Webster Avenue Suite #302, Poughkeepsie, NY 12601
Prior to TLC, Dr. Malak served as physician-manager in pediatrics at the Poughkeepsie Health Center of Kaiser / CHP, where he began work in 1985.
Dr. Malak attended Western Reserve College and Case Western Reserve University School of Medicine in Cleveland, Ohio. After his residency at Childrens Mercy Hospital in Kansas City, Missouri, he served as chief resident of pediatrics at Albany Medical Center Hospital.
He is board-certified and a member of the American Academy of Pediatrics. Dr. Malak has been chairman of the division of pediatrics at Saint Francis Hospital from 1995-2002. He is an attending physician at Vassar Brothers, and has served on various committees at both hospitals. He is credentialled in Pediatric Advanced Life Support and has a special interest in pediatric injuries and alternatives to blood transfusion in children.
In addition, Dr. Malak as Katie Mahar’s pediatrician, has invested much time in researching the diagnosis and care of children with xeroderma pigmentosum. In particular, he continues to explore the important dietary needs of young XP patiets. He has contributed research papers to this Website and has lectured at parent meetings at Camp Sundown over the years.
Alain Sarasin, Ph.D.
Laboratory of Genetic Instability and Cancer, UPR2169 CNRS, Institut Gustave Roussy, PR2, 39, rue Camille Desmoulins, 94805 VILLEJUIF, FRANCE
The XP Society first met with Dr. Sarasin in the Spring of 1996 when both Caren and Dan Mahar got to visit Villejuif, France on a trip sponsored by XL Productions, a Paris based film company.
In addition to serving on the XP Society Advisory Board, Alain Sarasin works with the Association pour le Xeroderma Pigmentosum (AXP) in France.
Functional Retroviral Vector for Gene Therapy of Xeroderma Pigmentosum Group D Patients, by M. Carreau, X. Quillet, E.Eveno, A. Salvetti, O. Danos, J-M. Heard, Alain Sarasin, et al.Human Gene Therapy 6:1307-1315 (Oct. 1995), Mary Ann Liebert, Inc.The first step toward gene therapy for the DNA repair disease xeroderma pigmentosum (XP) has been established by Carreau et al. They report the construction of a retroviral vector containing one of the DNA repair genes, the XP complementation group D previously known as ERCC2. Gene transfer was carried out on fibroblasts from two XP complementation group D patients referred to their laboratory. Complete phenotypic correction of the DNA repair defect in cells from both patients was achieved after the introduction of a functional copy of the XPD gene. This vector will then be used to modify keratinocytes to produce repair proficient reconstituted skin for engraftment at the most exposed areas. In this view, this study represents the first step toward long-term skin cancer therapy for XP patients.
Reconstruction of DNA repair-deficient xeroderma pigmentosum skin in the laboratoryThis breakthrough development, published in July 2001, should enable research to be conducted without direct experimentation on XP patients. The full title of this work is:“Clues to epidermal cancer proneness revealed by reconstruction of DNA repair-deficient xeroderma pigmentosum skin in vitro” by Françoise Bernerd, Daniel Asselineau, Corinne Vioux, Odile Chevallier-Lagente, Bakar Bouadjar, Alain Sarasin, and Thierry Magnaldo
Alain Sarasin is one of the authors of Pathology and Genetics of Skin Tumours (ISBN-10: 92-832-2414-0) scheduled for publication by Oxford Press in November, 2006.
Alain Sarasin is a member of the European Environmental Mutagen Society (EEMS) and past president of Société Française de Toxicologie Génétique (SFTG).
In 2004, Professor Sarasin received the Frits Sobels Award for his outstanding contributions to the research on the cellular processes coping with DNA lesions, particularly those induced by UV-light. These experiments provided not only fundamental information on the mechanisms of mutagenesis, but also medical data allowing a better detection and eventually a better treatment of DNA repair-deficient patients.
September 2005, Dr. Sarasin presented MOLECULAR MECHANISMS OF SUNLIGHT-INDUCED SKIN CANCER at the 9th International Conference on Environmental Mutagens in San Francisco.
Daniel B. Yarosh, Ph. D.
Daniel B. Yarosh, Ph.D., is widely recognized as a pioneer in the science of DNA repair. He and his laboratory, AGI Dermatics, are responsible for inventing ingredients for such brands as Estée Lauder, L’Oreal, and Shiseido. His products and cosmetics innovations have been featured widely in the media, including ABC’s World News Tonight, Wall Street Journal, Vogue, Newsweek, Self, Allure, and Good Housekeeping. Visit his Web site at www.agiderm.com.