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Kids First Program Fall Webinar: Growing Diversity of Data Types and Collaborative Research
Join us for a webinar featuring program updates and research findings from the Gabriella Miller Kids First Pediatric Research Program. Open to all members of the community, this event is an excellent opportunity to hear from Kids First investigators and data experts, and to pose questions to this season's panel of presenters.

Agenda
● 3:00 pm – Dr. Marcia Fournier, NIH Kids First Program Manager: “The Kids First Program”
● 3:20 pm - Keynote Speaker: Dr. Joaquin Espinosa, INCLUDE DCC - “Interoperability & Working Together Across NIH”
● 3:50 pm – Dr. Allison Heath, Dr. Nara Lygia De Macena Sobreira & Dr. Hakon Hakonarson, Kids First DRC: “Cross Disease Availability, Accessibility and Secondary Use”
● 4:20 pm - Dr. Adam Resnick & Dr. Yiran Guo, Kids First DRC: “Variant Discovery in the Cloud”
● 4:50 pm – Dr. David Higgins, Kids First DRC: “Training & Support Resources”
● 4:55 pm – Closing Remarks

While completing registration, be sure to submit questions in advance for the Q&A sessions following each presentation! Questions and suggested topics for discussion can also be submitted to us via email at KidsFirst@od.nih.gov.

02:07:00

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Speakers

Dr. Adam Resnick
Co-Executive Director @Children's Hospital of Philadelphia: Center for Data Driven Discovery in Biomedicine
Adam Resnick, PhD, is Co-director of Data Driven Discovery in Biomedicine (D3b) at Children’s Hospital of Philadelphia (CHOP). His research is focused on defining the cell signaling mechanisms of oncogenesis and tumor progression in brain tumors. Resnick’s research lab studies cell signaling cascades and their alterations in pediatric brain tumors to elucidate the molecular and genetic underpinnings of each tumor in an effort to identify and develop targeted therapies. Dr. Resnick serves as Scientific Chair for several consortia-based efforts, including the Children’s Brain Tumor Network (CBTN) and Pacific Pediatric Neuro-Oncology Consortium (PNOC), which include more than 20 pediatric hospitals across the globe. Additionally, Dr. Resnick is the Principal Investigator for the NIH Common Fund-supported Gabriella Miller Kids First Data Resource Center. As co-director of D3b, Dr. Resnick leads a multidisciplinary team to build and support a scalable, patient-focused healthcare discovery.
Dr. Marcia Fournier
Program Manager @NIH
Marcia Fournier, Ph.D., is the program manager for the NIH Common Fund’s Gabriella Miller Kids First Pediatric Research Program. She joined NIH in 2020 as an American Association for the Advancement of Science Science & Technology Policy Fellow with the National Cancer Institute (NCI) Cancer Research Data Commons. In addition to developing strong internal project communications among the data commons stakeholders, she also supported the development of the NCI Clinical Trial Data Commons. Dr. Fournier has 20 years of experience in leading teams and applying genomics and machine learning in developing innovative healthcare products. Throughout her career, she has worked with leading institutions in cancer research and technology, including as a postdoctoral fellow with Lawrence Berkeley National Labs and as a principal scientist with GlaxoSmithKline. She also was the founder and chief executive officer of the biotechnology company Bioarray Genetics Inc., a gene-profiling company.
Dr. David Higgins
Informatics Program Manager @Children's Hospital of Philadelphia: Center for Data Driven Discovery in Biomedicine
David Higgins is a Informatics Program Manager responsible for increasing the accessibility of the Center’s resources to the D3b Center’s research collaborators. He is working to develop training materials for researchers using D3b tools in order to accelerate the transition from data to knowledge to impact. Additionally, David communicates with researchers to learn about their needs, pointing them to the best tools for their particular projects. If these tool don’t exist, he brings their requests back to the ADAPT and Bioinformatics Units to guide the development of new software tools and pipelines. Prior to joining CHOP in March of 2020, David performed research as part of a PhD program, learning to use high-throughput sequencing sets to identify genomic variants. Following his PhD, he spent three years working as a visiting professor at liberal arts colleges where he taught classes in biology and genetics.
Dr. Joaquin Espinosa
Executive Director of the Linda Crnic Institute for Down Syndrome @University of Colorado Anschutz Medical Campus
Dr. Espinosa is the executive director of the Linda Crnic Institute for Down Syndrome (Crnic Institute) and professor of pharmacology at the University of Colorado School of Medicine. Dr. Espinosa received his B.S. in Biology from the Universidad Nacional de Mar del Plata, Argentina and a PhD in Biology from the Universidad de Buenos Aires, Argentina. Supported by a fellowship from the PEW Charitable Trusts, Dr. Espinosa completed his post-doctoral training at the Salk Institute for Biological Studies in La Jolla, California. Dr. Espinosa leads a diverse research program with emphasis on Down syndrome that is supported by the NIH INCLUDE Project, NSF, and the Global Down Syndrome Foundation. At the Crnic Institute, Dr. Espinosa directs the Human Trisome Project, a pan-omics natural history study of the population with Down syndrome, which has enabled the design of novel clinical trials to improve health outcomes in Down syndrome.
Dr. Nara Lygia De Macena Sobreira
Assistant Professor of Genetic Medicine & Pediatrics in the Department of Genetic Medicine @Johns Hopkins University School of Medicine
Dr. Nara Lygia De Macena Sobreira is an assistant professor at the McKusick-Nathans Department of Genetic Medicine at Johns Hopkins University School of Medicine. Her area of expertise is rare Mendelian phenotypes, analysis of next-generation sequencing, and functional testing of candidate causative variants. Her main clinical and research focus is on identifying the genetic bases of rare phenotypes, mainly, phenotypes associated with cartilage tumors and vascular anomalies (including Ollier disease and Maffucci syndrome), and on understanding the physiopathology of these phenotypes to identify pharmacological strategies to treat them. She has worked extensively on developing strategies to better analyze the variants identified by next-generation sequencing and on novel strategies for data sharing. She participated on the development of PhenoDB, a phenotypic and genomic database, and created PhenoDB Variant Analysis Tool used worldwide. She is also one of the creators of GeneMatcher.
Dr. Hakon Hakonarson
Director of the Center for Applied Genomics at the Perelman School of Medicine @University of Pennsylvania
Dr. Hakonarson, MD, PhD, leads a major commitment from CHOP to genomically characterize over 100,000 children, an initiative that has gained nationwide attention in the Wall Street Journal, New York Times, Time Magazine, Nature and Science. Dr. Hakonarson is a Principal Investigator within the eMERGE, Kids First and the TopMed genomics programs funded by the NIH. Dr. Hakonarson was recently ranked among “The World’s Most Influential Scientific Minds” (Thomson Reuters top 1%) with over 900 publications and h-index 158. Dr. Hakonarson has previously held several senior posts within the biopharmaceutical industry, directing a number of genomics and pharmacogenomics projects as vice president of Clinical Sciences and Development at deCODE genetics, Inc. Dr. Hakonarson is a principal investigator within Kids First.
Dr. Yiran Guo
Principal Bioinformatics Scientist @Children's Hospital of Philadelphia: Center for Data Driven Discovery in Biomedicine
Yiran Guo is responsible for building and managing data frameworks, creating tools and analyzing large-scale biomedical datasets. This data contains unprecedented information about human health and disease, and bioinformatics frameworks and tools are designed to extract clinically-relevant knowledge from this information. His research is focused on identifying genetic effects of both rare and common diseases, understanding biological mechanisms behind cancer with the help of -omics data analytics, and designing bioinformatics programs to automate above mentioned tasks. Prior to joining the D3b Center in July of 2018, Yiran worked in the Center for Applied Genomics (CAG) at CHOP for nine years on various human genetics/medical genomics projects, implementing techniques such as genome-wide association (GWA) analyses for common complex disorders, rare variant filtering for genetic conditions and machine learning related disease risk prediction.
Dr. Allison Heath
Director of Data Technology and Innovation @Children's Hospital of Philadelphia: Center for Data Driven Discovery in Biomedicine
Allison Heath is responsible for providing technical and collaborative leadership to build platforms for data-driven discovery that span across both research and operational efforts. She provides supervision of the data products and platforms team which performs basic and applied research in data intensive computing, bioinformatics, cloud computing, and related areas. Since joining CHOP in 2017, Allison and her team have been working on solving big data challenges in the unique context of pediatric diseases, including leading the development of the Kids First Data Resource Center (DRC). Prior to joining CHOP, Allison was the Director of Research at the Center for Data Intensive Science of the University of Chicago. In this position, she led a several large-scale data-intensive projects, including the NCI Genomic Data Commons, the Open Science Data Cloud, and the Bionimbus Protected Data Cloud. She is committed to accelerating discovery and translational research by democratizing data.