Gabriella Miller Kids First Pediatric Research Program ... · • Nonsyndromic Craniosynostosis •...
Transcript of Gabriella Miller Kids First Pediatric Research Program ... · • Nonsyndromic Craniosynostosis •...
Gabriella Miller Kids First Pediatric Research Program (Kids First)NIH Common Fund Program
Program VisionAlleviate su˜ering from childhood cancer and structural birth defects by fostering collaborativeresearch to uncover the etiology of these diseases and support data sharing within the pediatric research community
Background Childhood cancers and structural birth defects have profound life-long e˜ects on patients and their families The role of genetics in these areas is not fully understood and this lack of understanding is impeding researchers from developing preventive early-detection and therapeutic interventions
Prior to her death from cancer in 2013 10-year-oldGabriella Miller called on Congress to increasesupport for pediatric research In 2014 the GabriellaMiller Kids First Research Act was signed into law andin early 2015 the NIH Common Fund launched theGabriella Miller Kids First Pediatric Research Program(Kids First)
Kids First will help researchers better understand the genetic contributions to childhood cancer andstructural birth defects by whole genome sequencing cohorts of children with these disorders anddepositing the sequence and clinical data into the forthcoming Gabriella Miller Kids First PediatricData Resource These activities will allow researchers to search and analyze the data for new causal genetic variants
Kids First Working Group
Kids First is a trans-NIH e˜ort supported by the NIH Common FundInstitutes that chair the Kids First Working Group
NICHD
Eunice KennedyShriver National
Institute of Child Health and Human
Development
NCI
NationalCancer Institute
NHLBI
National Heart Lung and Blood Institute
NHGRI
NationalHuman
GenomeResearchInstitute
Other NIH Institutes and Centers and HHS agencies that are a part of the Working GroupNCATS NIDCR NIDCD NIDA NIAAA NIDDK NIEHS NEI NIAMS NIAID ORIP and the CDC
NIH Common Fund ProgramsThe Common Fund is a unique resource at NIH functioning as a ldquoventurecapitalrdquo space where high-risk innovative endeavors with the potential forextraordinary impact can be supported The CF programs such as theKids First Program are short-term goal-driven strategic investments withdeliverables intended to catalyze research across multiple biomedicalresearch disciplines
Connect with us
Sign up for the Kids First list-servhttpscommonfundnihgovkidsfrstregister
Kids First Program httpscommonfundnihgovKidsFirst
NIH Common Fund (CF) programs httpscommonfundnihgov
Major Initiatives1 Cohort Identifcation amp DNA Sequencing
Cohorts of children with childhood cancer andor structural birth defects and their families were selected for wholegenome sequencing provided by the Kids First Sequencing Centers after undergoing a peer-reviewed process
Dis
ease
Are
as
bull Adolescent Idiopathic Scoliosis
bull Cancer Susceptibility
bull Congenital Diaphragmatic Hernia
bull Craniofacial Microsomia
bull Disorders of Sex Development
bull Enchondromatoses
bull Ewing Sarcoma
bull Familial Leukemia
bull Hearing Loss
bull Infantile Hemangiomas
bull Neuroblastomas
bull Nonsyndromic Craniosynostosis
bull Orofacial Clefts
bull Osteosarcoma
bull Patients with both childhoodcancer and birth defects
bull Structural Heart amp Other Defects
bull Syndromic CranialDysinnervation Disorders
Kids First Sequencing Centers
HudsonAlphaInstitute for
Biotechnologyamp St JudeChildrenrsquos ResearchHospital
The BroadInstitute of
MIT ampHarvard
BaylorCollege ofMedicineHuman
GenomeSequencing
Center McDonnell
GenomeInstitute at
WashingtonUniversity
2 Kids First Data ResourceThe Kids First Data Resource Center (DRC) will create a resource which will serve as a centralized database to store andintegrate genomic data from childhood cancer and structural birth defects patients and their families Additionally theData Resource Portal will allow researchers to instantly search large genomic datasets using new data visualization toolsand cloud-based data-sharing platforms Researchers everywhere will be able to identify genetic pathways that underliethe biological causes of childhood cancer and structural birth defects These new pathways may help researchersdiscover novel and improved treatments for children diagnosed with childhood cancer or structural birth defects
The DRC is charged with re-processing and ldquoharmonizingrdquo data generated by the sequencing centers as well as clinical and phenotypic data to facilitate analyses across all Kids First datasets
Data Resource Portal˛ Web-based public-facing platformbullDesigned to house organize index
Data Coordinating CenterbullFacilitate the deposition ofsequence and phenotype data intorelevant repositoriesbullHarmonize phenotypes
Administrative amp Outreach Core
bullDevelop policies amp procedures
bullFacilitate meetings amp communication
bullEducate and seek feedback from users R each out to advocacy groups
Kids First DRC Member InstitutionsCenter for Data Driven Discovery
in Biomedicine at Childrenrsquo Hospital of Philadelphia
s
bull
Childrenrsquos NationalHealth System
Ontario Institute forCancer Research
Oregon Health andScience University
University of Chicago
Seven Bridges Genomics Inc
Precision ApproachData shared from the KidsFirst Data Portal may help
your doctors fndtreatments that are more 6
targeted to your childrsquosneeds based on their
genetic characteristics
Cross-Disease ResearchResearchers will use theData Resource Portal to
perform complex dataanalyses to uncover new 5
clues into causes ofchildhood cancer and
structural birth defectsData Resource Portal
The Data Resource Portal provides acentral location where researchersfrom all over the world can accessgenomic data from childhood dis- 4
ease patients and their families Thisempowers researchers to share theirfndings and collaborate in real time
Patients as PartnersYou can choose to partnerwith researchers byparticipating in studiesseeking cures for pediatriccancer and structural birthdefects
Genomic ldquoBig DatardquoYour data are added toa database containingtens of thousands ofpatient DNA samplescollected from bloodtissue and salivabefore it issequenced andintegrated withpatient clinical data
2
Safe amp SecureAll of the personal informationand data entered into theKids First Data Portal isde-identifed to maintain yourprivacy and security
3 Data Analysis Data Mining amp Demonstration ProjectsIn the future Kids First intends to support Data Mining amp Demonstration Projects for analysis of Kids First-generated andother pediatric data to uncover new insights into the biology of childhood cancer and structural birth defects including thediscovery of shared genetic pathways between childhood cancer and structural birth defects
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