The Gabriella Miller Kids First Data Resource Center at the 2018 ASHG Annual Meeting-title-h1
The Gabriella Miller Kids First Data Resource Center at the 2018 ASHG Annual Meeting
The Gabriella Miller Kids First Data Resource Center at the 2018 ASHG Annual Meeting
The Annual Meeting of the American Society of Human Genetics (ASHG) is the largest human genetics meeting and exposition in the world, with researchers, clinicians, hospital and foundation representatives, and patient advocates from all areas of human genetics in attendance. The number of attendees for the 2018 Annual Meeting, which was held in San Diego, CA from October 16 to 19, reached over 6,500.
At this gathering of the world’s leading minds in human genetics research, the National Institutes of Health (NIH) Common Fund-supported Gabriella Miller Kids First Data Resource Center (Kids First DRC) hosted an exhibition booth in an effort to highlight the Center’s work in fostering collaboration and data sharing amongst researchers to accelerate discoveries and new treatments in childhood cancer and structural birth defects; as well as to showcase the newly-launched Kids First Data Resource Portal.
At our week-long exhibition booth, Kids First DRC members engaged ASHG Meeting attendees; answering questions and providing insights on how the Data Resource Portal operates, the tools and datasets that are available to Portal users, and how clinicians, researchers, and community members can access these tools and information. Kids First DRC Principle Investigators and experts were also available at the booth to answer more in-depth questions and provide live demonstrations and walkthroughs of the Portal.
Additionally, the Kids First DRC was heavily active on social media for the duration of the Annual Meeting, live-posting during poster and exhibitor sessions and reaching a combined audience of over 8,000 Twitter and Facebook users.
On Thursday, October 18, approximately 250 guests attended an ancillary Poster Session and Meet & Greet event at the San Diego Marriot Marquis & Marina co-hosted by the NIH Common Fund’s Gabriella Miller Kids First Pediatric Research Program (Kids First) and the Kids First DRC. 24 Kids First project teams presented posters on their work and answered questions. Event attendees had the opportunity to enhance their understanding of the genomic data generated by Kids First, to learn about the progress of Kids First X01 cohort projects, and to observe demonstrations on the tools and functionalities of the Data Resource Portal.
The session served as an excellent opportunity for the scientific community and public to engage with Kids First investigators and collaborators to inspire new collaboration opportunities as the NIH and DRC work together to cultivate a growing community of researchers, patient foundations, and families. The event was also an opportunity for attendees to provide input and feedback about the Kids First program through a survey and discussion with NIH program staff.
The Kids First DRC was honored to welcome a number of distinguished guests to the event, including Dr. Diana Bianchi, Director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development. We wish to thank all attendees for joining us, and congratulate all the Kids First researchers and collaborators who presented at both the Kids First Poster Session and the ASHG Annual Meeting Exhibition Sessions. A complete list of Kids First Poster Session presenters is featured at the end of this story.
The Kids First DRC’s week-long ASHG exhibition, as well as the Poster Session and Meet & Greet event, were the most recent effort in a long-term outreach initiative undertaken by the Kids First DRC’s Administrative and Outreach Core (AOC) to foster research collaboration for the benefit of children the world over. In the past year, the Kids First DRC has joined with more than 30 patient and family foundations, plus 36 clinical and research partners to facilitate the launch of the Kids First Data Resource Portal and support data sharing throughout the childhood cancer and structural birth defect research communities. We’ve met face-to-face with hundreds of conference and meeting attendees, drawn tens of thousands of visitors to the Kids First DRC website and Data Resource Portal, and engaged thousands more through various media outlets and social media platforms.
This robust outreach strategy has yielded an incredible response. More than 200 clinicians, researchers, and patients/families from around the globe have registered with the portal, and have partnered to create the largest database of pediatric genomic data in the world – combining whole genome sequences (WGS), RNA-seq, clinical, imaging, and histology data. The portal has amassed over 30,000 files (or 809.1 TB) of genomic data from over 9,000 tissue samples, gathered from 5,902 patients representing 1,694 family research participants.
Currently, there are seven datasets available through the portal, including the Pediatric Brain Tumor Atlas, as well as data from cohorts of children with orofacial cleft, Ewing sarcoma, syndromic cranial dysinnervation, congenital heart defects, adolescent idiopathic scoliosis, and congenital diaphragmatic hernia. This size and number of datasets is expected to grow considerably, as additional datasets representing craniofacial microsomia, hearing loss, neuroblastoma, leukemia, and more become available to Portal users over the next several months.
Currently, more than 25,000 patient samples are slated for sequencing and analysis, which will allow biomedical researchers to uncover new insights into the biology of childhood cancer and structural birth defects or to develop new computational methods for analyzing genetic data. The Kids First Data Resource Center will also be available for researchers to use in their own studies supported by other public and private funding sources.
To learn more and to register with the Kids First Data Resource Portal, visit kidsfirstdrc.org/portal/portal-features/
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Kids First X01 Collaborators at the Kids First DRC Poster Session and Meet & Greet
Alexander Kitaygorodsky, Columbia University – in collaboration with Kids First Principal Investigators: Wendy Chung, MD, PhD; Yufeng Shen, PhD
Poster: Whole genome sequencing shows contribution of de novo noncoding variants to congenital diaphragmatic hernia
Xueya Zhou, Columbia University Medical Center – in collaboration with Kids First Principal Investigators: Wendy Chung, MD, PhD; Yufeng Shen, PhD
Oral Presentation: De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders
Felix Richter, PhD, Icahn School of Medicine at Mount Sinai; PGCG – in collaboration with Kids First Principal Investigators: Bruce Gelb, MD; Christine Seidman, MD
Poster: Discovery of the genetic basis of structural heart and other birth defects
Mary Marazita, BS, PhD; Eleanor Feingold, PhD; University of Pittsburg; Azeez Butali, DDS, PhD, University of Iowa; Terry Beaty, PhD, Johns Hopkins University – Kids First Principal Investigators
Poster: Genomic Studies of Orofacial Cleft Birth Defects
Julie Jurgens, PhD, Boston Children’s Hospital – in collaboration with Kids First Principal Investigator: Elizabeth Engle, MD
Poster: Detection of novel genetic bases for congenital cranial dysinnervation disorders (CCDDs) by Whole Genome Sequencing
Hayk Barseghyan, PhD, Children’s National Health System – in collaboration with Kids First Principal Investigator: Eric Vilain, MD, PhD
Poster: Precision health pilot project for disorders of sexual development
Carol Wise, PhD, UT Southwestern Medical Center – Kids First Principal Investigator; in collaboration with Kids First Principal Investigator: Jonathan Rios, PhD
Poster: Genomics of Orthopaedic Disease Program
Cynthia Morton, PhD, Brigham and Women’s Hospital; Hear-‘n-SEQ Consortium – Kids First Principal Investigator; in collaboration with Kids First Principal Investigator: Jun Shen, PhD
Poster: Hear-‘n-SEQ: Sequencing Kids First for Hearing
Daniela Luqetti, MD, PhD, University of Washington – Kids First Principal Investigator
Poster: Craniofacial Microsomia: Genetic Causes and Pathway Discovery
Patrick Sleiman, PhD, Children’s Hospital of Philadelphia – Kids First Principal Investigator; in collaboration with Kids First Principal Investigator: Hakon Hakonarson, MD, PhD
Poster: Genetics at the intersection of childhood cancer and birth defects
Simeon Boyd, MD, University of California Davis – Kids First Principal Investigator; in collaboration with Kids First Principal Investigator: Paul Romitti, MS, PhD, Iowa College of Public Health
Poster: Whole Genome Sequencing of nonsyndromic craniosynostosis
Dawn Siegel, MD, Medical College of Wisconsin – Kids First Principal Investigator; in collaboration with Kids First Principal Investigator Beth Drolet, MD
Poster: Phenotypic features and genetic mechanisms in PHACE Syndrome cohort
Nara Sobreira, MD, Johns Hopkins University – Kids First Principal Investigator
Poster: Survey of Patients with Ollier Disease and Maffucci Syndrome over Facebook compared to Review of Clinical Literature
Poster: Variable Expressivity of the phenotype in patients with Ollier disease or Maffucci syndrome
Hila Milo Rasouly, PhD, Columbia University – in collaboration with Kids First Principal Investigator: Ali Gharavi, MD
Poster: Analysis of de novo coding mutations identifies new candidate genes for kidney malformations
Dina Ahram, PhD, Columbia University – in collaboration with Kids First Principal Investigator: Ali Gharavi, MD
Poster: An exome-wide association study identifies candidate susceptibility genes for congenital obstructive uropathy
Ian Krantz, MD, Children’s Hospital of Philadelphia – Kids First Principal Investigator
Poster: Genomic Diagnostics in Cornelia de Lange Syndrome, related diagnoses and structural birth defects
Kids First DRC Collaborator Posters:
Julie McMurry, PhD, The Monarch Initiative
Steve Murray, PhD, Knockout Mouse Phenotyping Project (KOMP2), International Mouse Phenotyping Consortium
Kids First DRC Posters:
Jena Lilly, MS, Children’s Hospital of Philadelphia; Administrative and Outreach Core
Deanne Taylor, PhD, Children’s Hospital of Philadelphia; Data Coordination Core
Yuankun Zhu, BS, Children’s Hospital of Philadelphia; Genomic Harmonization
Kids First Sequencing Centers:
Andrew Hollinger on behalf of Stacey Gabriel, PhD, The Broad Institute
Shawn Levy, PhD, Hudson Alpha Institute for Biotechnology
John Easton, PhD, St. Jude Children’s Research Hospital
Poster: Detecting complex fusion transcripts using CICERO, an assembly-based algorithm