Illumina 임상 자문 위원회

Dr. Nussbaum is a distinguished medical geneticist and professor affiliated with University of California San Francisco and Illumina, having retired as Invitae’s chief medical officer in 2023. With a career spanning Harvard, NIH, and UCSF, he has contributed nearly 400 peer-reviewed publications and co-authored the influential textbook Genetics in Medicine. His accolades include the Klaus-Joachim Zülch Prize, the Van Andel Award for Outstanding Achievement, and election to the National Academy of Medicine and the American Academy of Arts and Sciences.

Ms. Cohen is the director of genetic counseling services at the Kennedy Krieger Institute and an associate professor of clinical neurology and clinical genetics at Johns Hopkins University School of Medicine. She is certified by the American Board of Genetic Counseling and a member of the National Society of Genetic Counselors, and has expertise in clinical genomics, leukodystrophy, muscular dystrophy, movement disorders, epilepsy, intellectual disability, and autism. Ms. Cohen provides genetic counseling to children and adults with neurogenetic disorders and developmental disabilities and is recognized as a key opinion leader. She is a frequent national speaker and author of more than 50 peer-reviewed publications. Her research is focused on the genetic basis of neurodevelopmental disorders and the psychological aspects of living with rare genetic conditions.

Dr. Rodrigo Dienstmann is a physician scientist and principal investigator specializing in oncology data science, precision medicine, and digital health. At the Vall d’Hebron Institute of Oncology in Spain, Dr. Dienstmann leads the Oncology Data Science Group, advancing research in molecular therapeutics and computational oncology. He also serves as medical director for Oncoclínicas Precision Medicine and Big Data in Brazil, where he oversees the integration of advanced analytics and personalized approaches in cancer care. Dr. Dienstmann’s work spans clinical research, translational oncology, and the application of big data to improve patient outcomes. His leadership includes directing multi-institutional collaborations, editorial roles such as editor-in-chief for ESMO Real World Data and Digital Oncology, and service on advisory boards for precision medicine and targeted treatments. With more than 190 peer-reviewed publications, Dr. Dienstmann’s expertise is recognized by major scientific and medical organizations. He is committed to bridging clinical innovation and data-driven solutions in oncology, and holds advanced degrees in medicine, research, and business administration.

Dr. Kim-McManus is a physician scientist and associate professor specializing in pediatric neurology, epilepsy, and clinical neurophysiology at Rady Children’s Institute for Genomic Medicine and UCSD. She directs Rady’s Batten Disease: Precision Therapeutics Neuro-Interventional Program, focusing on targeted therapies including antisense oligonucleotides for rare genetic neurological disorders in children. Her work, which includes clinical trial leadership and regulatory expertise, is supported by major health and advocacy organizations. She also holds leadership roles on multiple advisory and research committees.

Dr. DeBerardinis is a pediatrician, biochemical geneticist, and physician-scientist who directs the Eugene McDermott Center for Human Growth and Development and the Genetic and Metabolic Disease Program at UT Southwestern Medical Center. His research focuses on the metabolic alterations in diseases such as cancer and pediatric inborn errors of metabolism and on utilizing metabolomics and isotope tracing to study disease-associated metabolic states in patients and model systems.

Dr. Illert is medical director of the Centre for Personalized Medicine at University Hospital Klinikum Rechts der Isar in Munich and chair for personalized oncology at the Technical University of Munich (TUM), focusing on innovative approaches in molecular tumor boards and precision cancer care. Her work spans clinical trial leadership from first-in-human to Phase III studies and is supported by major research and advocacy organizations. Dr. Illert is a Mildred-Scheel Professor of the German Cancer Aid, vice speaker of the ETN-Horizon Network “FANTOM,” and serves on steering boards and editorial committees for major oncology organizations. Her work has been recognized with numerous awards and fellowships, and she is an active contributor to national and European guidelines in personalized oncology.

Dr. Kullo is a physician scientist and professor specializing in cardiovascular medicine, genetic epidemiology, and genomic implementation at the Medical College of Wisconsin. As associate director of both the Cardiovascular Research Center and the Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Dr. Kullo’s work centers on the genetic basis of coronary heart disease and lipid disorders, with a particular focus on polygenic risk assessment and reducing disparities in genomic medicine. Previously, Dr. Kullo served as a consultant at the Mayo Clinic, where he led the Atherosclerosis and Lipid Genomics Laboratory, chaired the Cardiovascular Genomics Task Force, and directed specialized clinics and fellowship programs in cardiovascular genomics. His research, supported by continuous NIH funding since 2003, includes leadership roles in the eMERGE and PRIMED networks of the National Human Genome Research Institute. Dr. Kullo has published more than 450 scientific papers and mentored more than 100 trainees, and recently completed a term on the National Advisory Council on Human Genome Research.

Dr. Loh is a pediatric hematologist-oncologist leading multiple divisions at Seattle Children’s Hospital and Research Institute. Her work is focused on childhood cancer and blood disorders. She has a strong background in translating genomic research into clinical therapies, notably in juvenile myelomonocytic leukemia and acute lymphoblastic leukemia, and has played a key role in national clinical trials aimed at improving treatment outcomes. Dr. Loh is recognized for bridging laboratory discoveries and patient care and is an advocate for trainees and junior faculty at the University of Washington.

Professor Newman is a professor of translational genomic medicine at the University of Manchester and a consultant in clinical genetics at the Manchester Centre for Genomic Medicine, Manchester UK. His research focuses on the discovery and characterization of rare genomic disorders. He leads a national multidisciplinary research program in the implementation of pharmacogenomics in clinical practice and is the director of the NHS England Network of Excellence in Pharmacogenomics and Medicines Optimization. He is the immediate past president of the European Society of Human Genetics.

Professor Prince is a professor and the Joseph F. Rosenfield Fellow in Law at the University of Iowa College of Law. Her teaching and research interests explore the ethical, legal, and social implications (ELSI) of genomic testing, with particular focus on genetic discrimination, health and reproductive privacy, and use of big data and algorithms. She has been a principal investigator and co-investigator on multiple ELSI research projects funded by the National Human Genome Research Institute at the NIH and other private foundations.

Dr. Ravitsky is president and CEO of the Hastings Center and a senior lecturer at Harvard Medical School with a distinguished background in bioethics, focusing on genomics, reproduction, and AI in biomedical research. Her extensive research, funded by major agencies including the NIH, addresses ethical issues in areas such as IVF, genetic testing, gene editing, and pandemic ethics. She also leads NIH-funded AI projects while contributing to the National Academy of Medicine’s AI Code of Conduct. She holds degrees from Sorbonne University, University of New Mexico, and Bar-Ilan University, and has held academic and advisory roles internationally.

Dr. Robinson is a founding partner at Charleston Maternal Fetal Medicine and provides high-risk pregnancy care at East Cooper Maternal Fetal Medicine, where he also serves as the department chair for obstetrics & gynecology at East Cooper Medical Center in Mount Pleasant, South Carolina. He has held faculty positions at several universities, been recognized as a National Best Doctor in Maternal-Fetal Medicine since 2013 and served in leadership roles for the Society for Maternal-Fetal Medicine. Dr. Robinson is an associate editor and media editor for leading journals in his specialty, has received an Editor Award from the American Journal of Obstetrics and Gynecology, and is a member of the American Gastroenterological Association IBD Parenthood Project. He has advanced training in bioinformatics and machine learning and is a recognized expert in hypertensive disease in pregnancy and obesity, with active involvement in translational medicine trials and clinical trial advisement.