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

1

3