Principal Investigators
John C. Carey, M.D.
Dr. Carey is a Professor of Pediatrics in the Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine. Dr. Carey is a medical geneticist with a career-long interest in chromosome syndromes, dysmorphology, and clinical teratology. Dr. Carey is currently the Editor-in-Chief of the American Journal of Medical Genetics. He is also the founding professional of the Support Organization for Trisomy 13, 18, and Related Disorders (SOFT).
Jannine D. Cody, Ph.D.
Dr. Cody is a molecular geneticist who has been the leader of the effort to further understanding of the abnormalities of chromosome 18 for more than 15 years. Dr. Cody is an Assistant Professor and Director of the Chromosome 18 Clinical Research Center at the University of Texas Health Science Center at San Antonio. She directs the molecular analysis and gene identification studies related to the syndromes of chromosome 18 and holds a grant from NICHD to support this work. Dr. Cody is also the founder and President of the Chromosome 18 Registry and Research Society, a support group for more than 1500 families with a member who has a chromosome 18 abnormality.
Daniel E. Hale, M.D.
Dr Hale is Chief of the Division of Endocrinology and Diabetes in the Department of Pediatrics at the University of Texas Health Science Center at San Antonio. He has been associated with the Chromosome 18 studies since 1994, when he assumed his present position at the University of Texas Health Science Center at San Antonio where he serves as the Medical Director of the Chromosome 18 Clinical Research Center and the Chromosome 18 Registry and Research Society.
Celia I. Kaye, M.D., Ph.D.
Dr. Kaye is a pediatrician and medical geneticist, with research interests in chromosome 18 deletion syndromes and barriers to genetic services. She has been actively involved in the studies of the chromosome 18 syndromes since their inception in 1990. She serves as a member of the Committee on Genetics of the American Academy of Pediatrics, the ACMG Uniform Conditions and Criteria for Newborn Screening Workgroup, and the Texas Department of Health Newborn Screening Taskforce. Dr. Kaye is currently serving as Vice Dean of the School of Medicine and Professor of Pediatrics at the University of Texas Health Science Center at San Antonio.
Working Group Chairs
Lisa Shaffer, Ph.D. – Molecular Genetics
Dr. Shaffer is Research Professor in the Health Research and Education Center at Washington State University. Dr. Shaffer has published over 150 peer-reviewed articles on clinical, molecular, and experimental cytogenetics. She holds elected positions on the International System for Human Cytogenetic Nomenclature (ISCN) and the American College of Medical Genetics Board of Directors. Her current research projects include understanding the molecular basis of Robertsonian translocations, deletions of 11p11.2, and monosomy 1p36.
Gerard T. Berry, M.D. – Endocrinology and Metabolism
Dr. Berry is an expert in the field of Biochemical Genetics and Metabolism. His research interests have centered on galactosemia, polyol and inositol metabolism. He is also the representative of the Society of Inherited Metabolic Diseases (SIMD) for the National Newborn Screening and Genetics Advisory Committee. Dr Berry is currently the Vice Dean of Jefferson Medical School, and was previously the Chief of the Division of Metabolism at the Children’s Hospital in Washington, D.C.
Joan T. Richtsmeier, Ph.D. – Neuro and Anatomical Imaging
Dr. Richtsmeier is an expert in quantitative morphology and craniofacial development and dysmorphology. She is Professor of Anthropology at the Pennsylvania State University and Visiting Professor at the Johns Hopkins Medical Institutions in the Center for Craniofacial Development and Disorders and the Center for Functional Anatomy and Evolution. Dr. Richtsmeier’s research has focused on the correlation between genotype and phenotype of the craniofacial complex in craniosynostosis, both isolated and syndromic.
Bronya Keats, Ph.D. – The Senses
Dr. Keats is Professor and Chair of the Department of Genetics, and Director of the Center for Molecular and Human Genetics at Louisiana State University Health Science Center. She has 20 years of experience in family studies of genetic anomalies in the Acadian population of Louisiana, in particular, disorders involving hearing impairment and visual loss.
Carolyn Mervis, Ph.D. – Cognitive Neuroscience
Dr. Mervis is a Distinguished University Scholar and Professor in the Department of Psychological and Brain Sciences at the University of Louisville. Dr. Mervis is well known for methodological contributions to the study of cognitive and language development of children with developmental disorders. Dr. Mervis’ NIH funded research focuses on language and cognitive development of children who are developing typically, children who have Williams syndrome, children who have Down syndrome, and children who have Kabuki syndrome. She is also involved in genotype / phenotype mapping in Williams syndrome.
Catherine Lord, Ph.D. – Social Neuroscience
Dr. Lord is a Professor of Psychology and Psychiatry at the University of Michigan and Director of the University of Michigan Autism and Communication Disorders Center (UMACC). She is best known for her work in longitudinal studies of children and adolescents with autism and her development of diagnostic measures used in both practice and research. Dr. Lord is also involved in studies on the genetics and pathophysiology of autism.
Peter J. Tonellato, Ph.D. – Data Integration and Bioinformatics
Dr. Tonellato is founder, and director, of the Bioinformatics Research Center at the Medical College of Wisconsin (1997-2003), where he established the first center for bioinformatics research in the Midwest. He has participated in both national (as principal investigator of the Rat Genome Database Project) and international genetic research programs (as member of the International Human Transcriptome Consortium). Dr. Tonellato is Chief Science Officer at PointOne Systems, LLC. This is the first company to provide clinical services, adoption strategy, and bioinformatics products to support genetic data and information in routine medical practice.
Principal Investigators
John C. Carey, M.D.
Dr. Carey is a Professor of Pediatrics in the Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine. Dr. Carey is a medical geneticist with a career-long interest in chromosome syndromes, dysmorphology, and clinical teratology. Dr. Carey is currently the Editor-in-Chief of the American Journal of Medical Genetics. He is also the founding professional of the Support Organization for Trisomy 13, 18, and Related Disorders (SOFT).
Jannine D. Cody, Ph.D.
Dr. Cody is a molecular geneticist who has been the leader of the effort to further understanding of the abnormalities of chromosome 18 for more than 15 years. Dr. Cody is an Assistant Professor and Director of the Chromosome 18 Clinical Research Center at the University of Texas Health Science Center at San Antonio. She directs the molecular analysis and gene identification studies related to the syndromes of chromosome 18 and holds a grant from NICHD to support this work. Dr. Cody is also the founder and President of the Chromosome 18 Registry and Research Society, a support group for more than 1500 families with a member who has a chromosome 18 abnormality.
Daniel E. Hale, M.D.
Dr Hale is Chief of the Division of Endocrinology and Diabetes in the Department of Pediatrics at the University of Texas Health Science Center at San Antonio. He has been associated with the Chromosome 18 studies since 1994, when he assumed his present position at the University of Texas Health Science Center at San Antonio where he serves as the Medical Director of the Chromosome 18 Clinical Research Center and the Chromosome 18 Registry and Research Society.
Celia I. Kaye, M.D., Ph.D.
Dr. Kaye is a pediatrician and medical geneticist, with research interests in chromosome 18 deletion syndromes and barriers to genetic services. She has been actively involved in the studies of the chromosome 18 syndromes since their inception in 1990. She serves as a member of the Committee on Genetics of the American Academy of Pediatrics, the ACMG Uniform Conditions and Criteria for Newborn Screening Workgroup, and the Texas Department of Health Newborn Screening Taskforce. Dr. Kaye is currently serving as Vice Dean of the School of Medicine and Professor of Pediatrics at the University of Texas Health Science Center at San Antonio.
Working Group Chairs
Lisa Shaffer, Ph.D. – Molecular Genetics
Dr. Shaffer is Research Professor in the Health Research and Education Center at Washington State University. Dr. Shaffer has published over 150 peer-reviewed articles on clinical, molecular, and experimental cytogenetics. She holds elected positions on the International System for Human Cytogenetic Nomenclature (ISCN) and the American College of Medical Genetics Board of Directors. Her current research projects include understanding the molecular basis of Robertsonian translocations, deletions of 11p11.2, and monosomy 1p36.
Gerard T. Berry, M.D. – Endocrinology and Metabolism
Dr. Berry is an expert in the field of Biochemical Genetics and Metabolism. His research interests have centered on galactosemia, polyol and inositol metabolism. He is also the representative of the Society of Inherited Metabolic Diseases (SIMD) for the National Newborn Screening and Genetics Advisory Committee. Dr Berry is currently the Vice Dean of Jefferson Medical School, and was previously the Chief of the Division of Metabolism at the Children’s Hospital in Washington, D.C.
Joan T. Richtsmeier, Ph.D. – Neuro and Anatomical Imaging
Dr. Richtsmeier is an expert in quantitative morphology and craniofacial development and dysmorphology. She is Professor of Anthropology at the Pennsylvania State University and Visiting Professor at the Johns Hopkins Medical Institutions in the Center for Craniofacial Development and Disorders and the Center for Functional Anatomy and Evolution. Dr. Richtsmeier’s research has focused on the correlation between genotype and phenotype of the craniofacial complex in craniosynostosis, both isolated and syndromic.
Bronya Keats, Ph.D. – The Senses
Dr. Keats is Professor and Chair of the Department of Genetics, and Director of the Center for Molecular and Human Genetics at Louisiana State University Health Science Center. She has 20 years of experience in family studies of genetic anomalies in the Acadian population of Louisiana, in particular, disorders involving hearing impairment and visual loss.
Carolyn Mervis, Ph.D. – Cognitive Neuroscience
Dr. Mervis is a Distinguished University Scholar and Professor in the Department of Psychological and Brain Sciences at the University of Louisville. Dr. Mervis is well known for methodological contributions to the study of cognitive and language development of children with developmental disorders. Dr. Mervis’ NIH funded research focuses on language and cognitive development of children who are developing typically, children who have Williams syndrome, children who have Down syndrome, and children who have Kabuki syndrome. She is also involved in genotype / phenotype mapping in Williams syndrome.
Catherine Lord, Ph.D. – Social Neuroscience
Dr. Lord is a Professor of Psychology and Psychiatry at the University of Michigan and Director of the University of Michigan Autism and Communication Disorders Center (UMACC). She is best known for her work in longitudinal studies of children and adolescents with autism and her development of diagnostic measures used in both practice and research. Dr. Lord is also involved in studies on the genetics and pathophysiology of autism.
Peter J. Tonellato, Ph.D. – Data Integration and Bioinformatics
Dr. Tonellato is founder, and director, of the Bioinformatics Research Center at the Medical College of Wisconsin (1997-2003), where he established the first center for bioinformatics research in the Midwest. He has participated in both national (as principal investigator of the Rat Genome Database Project) and international genetic research programs (as member of the International Human Transcriptome Consortium). Dr. Tonellato is Chief Science Officer at PointOne Systems, LLC. This is the first company to provide clinical services, adoption strategy, and bioinformatics products to support genetic data and information in routine medical practice.