Dr Daniel MacArthur is the Director of the Centre for Population Genomics, based jointly at the Garvan Institute of Medical Research, Sydney and the Murdoch Children’s Research Institute in Melbourne.
Euan Ashley, MD, PhD, is Associate Professor of Medicine, Genetics and Biomedical Data Science at Stanford University. He is director of the Center for Inherited Cardiovascular Disease, the Clinical Genomics service and the Stanford Data Science Initiative. In 2010, he led the team that carried out the first clinical interpretation of a human genome.In 2013, he was recognized by the White House OSTP for contributions to Personalized Medicine. Currently, he serves as co-chair of the NIH Undiagnosed Diseases Network and sits on the Institute of Medicine Roundtable on Genomics and Health.
He also leads the MyHeart Counts team that collects cardiovascular risk data through an iPhone app. He is co-founder of Personalis and DeepCell.
Doris Bachtrog, PhD, MSc is an Associate Professor at the Department of Integrative Biology, The University of California, Berkeley. Her research centers on a broad range of topics in functional evolutionary genomics. Ongoing research includes: (1) Investigating the causes of Y chromosome degeneration. (2) Studying the evolution of gene expression and dosage compensation in Drosophila. (3) The formation of heterochromatin on evolving Y chromosomes. (4) Comparative genomics in Diptera species. (5) The evolution of chromatin structure in Drosophila. (6) Investigating modes of speciation in several Drosophila species. (7) The evolution of sex-biased genes on newly formed sex chromosomes. (8) Transitions between sex determination systems. Most of her research uses Drosophila as a model, combing whole-genome experimental and computational analyses.
Jaclyn A Biegel, PhD, FACMG is the Division Chief of Genomic Medicine and the Director of the Center for Personalized Medicine in the Department of Pathology and Lab Medicine at Children’s Hospital Los Angeles and Professor of Clinical Pathology at the Keck School of Medicine at the University of Southern California. Prior to joining CHLA in 2015, Dr. Biegel rose through the academic ranks to Professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania, and was the founding director of the Cancer Cytogenetics Laboratory at The Children’s Hospital of Philadelphia. She recently served as editor-in-chief of Cancer Genetics, and is a member of the International System for Cytogenetic Nomenclature committee. Dr. Biegel’s primary research interests are focused on the genetics of pediatric rhabdoid tumors and childhood brain tumors.
Lyn Chitty,Professor of Genetics and Fetal Medicine at the UCL Great Ormond Street Institute of Child Health and Great Ormond Street NHS Foundation Trust, has published extensively on prenatal diagnosis and ultrasound screening of fetal abnormalities, and was responsible for creating the fetal size standards now in use throughout the UK and beyond. Recently her main research interest has been around the use of circulating cell free DNA. She led an NIHR programme (‘Rapid Accurate Prenatal non-Invasive Diagnosis (RAPID) which resulted in NHS implementation of NIPD for rare diseases, and provided the evidence to support routine implementation into NHS maternity care of NIPT for aneuploidy. She continues to work on the implementation of new molecular techniques to improve prenatal diagnosis through the investigation of whole exome and genome sequencing and extended development of NIPD. She is an editor of the journal Prenatal Diagnosis. In 2014 she was appointed an NIHR Senior Investigator. In addition to her own research, she is Clinical Director of the NIHR Clinical Research Network: North Thames, responsible for delivery of the NIHR portfolio of studies across all specialties, and Clinical Director for the North Thames NHS Genomic Medicine centre which is delivering around 25% of the genomes for the 100,000 Genomes Project. This national transformation programme will result in implementation of personalised medicine in the NHS, and has led to a broadening of her research interests which now includes developing methods to ensure informed consent for sequencing.
Wendy Chung, M.D., Ph.D. is a clinical and molecular geneticist and the Kennedy Family Associate Professor of Pediatrics and Medicine. She received her B.A. in biochemistry and economics from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from The Rockefeller University in genetics. Dr. Chung directs NIH funded research programs in human genetics of obesity, breast cancer, pulmonary hypertension, and birth defects including congenital diaphragmatic hernia and congenital heart disease. She leads the Precision Medicine Resource in the Irving Institute At Columbia University. She has authored over 250 peer reviewed papers and 50 reviews and chapters in medical texts. She was the recipient of the American Academy of Pediatrics Young Investigator Award, the Medical Achievement Award from Bonei Olam, and a career development award from Doris Duke. Dr. Chung is renowned for her teaching and mentoring and received Columbia University’s highest teaching award, the Presidential Award for Outstanding Teaching. She was the original plaintiff in the Supreme Court case that overturned the ability to patent genes and the Institute of Medicine Committee on Genetic Testing. Dr. Chung enjoys the challenges of genetics as a rapidly changing field of medicine and strives to facilitate the integration of genetic medicine into all areas of health care in a medically, scientifically, and ethically sound, accessible, and cost effective manner.
Ralph DeBerardinis, MD, PhD, earned a B.S. in biology from St. Joseph’s University and M.D. and Ph.D. degrees from the University of Pennsylvania. He was the first trainee in the combined residency program in pediatrics and medical genetics at The Children’s Hospital of Philadelphia and received several awards for teaching and clinical care. He ultimately achieved board certification in pediatrics, medical genetics and clinical biochemical genetics. Dr. DeBerardinis performed postdoctoral research in Craig Thompson’s laboratory in the Penn Cancer Center from 2004 to 2007. He joined the faculty of the University of Texas Southwestern Medical Center in 2008 and joined the Children’s Medical Center Research Institute at UT Southwestern (CRI) shortly after its founding in 2012. Dr. DeBerardinis serves as chief of Pediatric Genetics and Metabolism at UT Southwestern and director of the Genetic and Metabolic Disease Program in the CRI. His laboratory is interested in the role of altered metabolic states in human diseases, particularly pediatric inborn errors of metabolism and cancer.
Beth Ann Drolet ,MD, is a Professor of Dermatology and Pediatrics and Interim Chair of the Department of Dermatology at the Medical College of Wisconsin. She is a board certified dermatologist, and a fellowship trained pediatric dermatologist. Her pediatric dermatology clinical practice has been with Children’s Hospital of Wisconsin since 1995, where she is currently both the Chief Experience Officer and Medical Director of Birthmarks and Vascular Anomalies. Dr. Drolet is a graduate of Loyola University of Chicago, Stritch School of Medicine and completed her Residency as well as a Pediatric Dermatology Fellowship at the Medical College of Wisconsin.
Dr. Drolet has a special interest in birthmarks and infantile hemangiomas and has created a collaborative research team to improve management of infants with hemangiomas and vascular anomalies. Her team has led several national initiatives to better define high risk vascular lesions and determine the best and safest treatment plans for these conditions. In 2004, she established the Birthmarks and Vascular Anomalies Center at Children’s Hospital of Wisconsin. This unique interdisciplinary team includes nine pediatric specialties which provide comprehensive care for over fifteen hundred patients with rare, complex, and multi-system vascular anomalies. In Dr. Drolet’s new capacity as Chief Experience Officer within Children’s Hospital, she will provide: leadership, coaching and support for activities related to patient and family experience; including the development of skills and resources needed by all employees and providers to improve the Children’s Hospital experience.
Dr. Aris N. Economides received his Ph.D. in Biochemistry from Michigan State University in 1992, and promptly joined Regeneron Pharmaceuticals. He currently holds the position of Vice President, leading two groups: Genome Engineering Technologies, and Skeletal Diseases Therapeutic Focus Area. In addition, he is a co-founder of Regeneron Genetics Center (RGC), where he is also Head of Functional Modeling. Dr. Economides co-invented Cytokine Traps, VelociGene®, and VelocImmune®, all part of an integrated methodology for target discovery, validation, and the generation of biologic drugs such as the IL1 and VEGF traps, as well as therapeutic antibodies. As part of his involvement with the RGC, Dr. Economides has been working to elucidate the molecular pathophysiology of Mendelian disorders. A recent example is his work in Fibrodysplasia Ossificans Progressiva, where he and his team discovered a novel mechanism that explains important aspects of FOP’s pathophysiology and pinpoints a new potential route to therapy.
David FitzPatrick is an academic paediatric geneticist based in at the MRC Human Genetics Unit at the University of Edinburgh. He leads a lab-based research group focused on understanding the genetic basis of developmental disorder and is joint head of the Disease Mechanisms Section. He is a graduate of the University of Edinburgh Medical School and trained in paediatrics and clinical genetics the Royal Hospitals for Sick Children in Edinburgh, Bristol and Glasgow. He was a Wellcome Trust Clinical Training Fellow at the University of Glasgow and subsequently a Howard Hughes Clinical Research Training Fellow with Professor David Valle at Johns Hopkins Hospital in Baltimore. He returned to Edinburgh as a consultant in Clinical Genetics in 1994 and moved to the MRC Human GU in March 2000.
He has a long-standing research interest in the genetic causes of severe developmental disorders. In particular he has worked on finding disease loci for major eye malformations: identifying the major cause as heterozygous, de novo, loss-of-function mutations in SOX2. Whole exome sequencing has enabled the identification of several novel loci such as YAP1 and MAB21L2 for severe bilateral coloboma. David FitzPatrick is also one of the leads on the large-scale, UK-wide, trio-based exome sequencing project Deciphering Developmental Disorders (DDD). This project has collected biological samples and phenotypic data on 14,000 probands with developmental disorders (10,000 with sample from both parents). His specific interest within DDD is the development of the DDG2P reporting pipeline and the identification of discriminative phenotypic patterns that can predict particular disease genes.
A common theme of this work is the requirement for innovative uses of genetic technologies to identify and validate causative mutations affecting the structure or regulation of individual genes.