Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

Summary

Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism. Simons Searchlight collects medical, behavioral, learning, and developmental information from people who have these rare genetic changes. The goal of this study is to improve the clinical care and treatment for these people. Simons Searchlight partners with families to collect data and distribute it to qualified researchers.

Conditions

• 16P11.2 Deletion Syndrome
• 16p11.2 Duplications
• 1Q21.1 Deletion
• 1Q21.1 Microduplication Syndrome (Disorder)
• ACTL6B
• ADNP
• AHDC1
• ANK2
• ANKRD11
• ARID1B
• ASH1L
• BCL11A
• CHAMP1
• CHD2
• CHD8
• CSNK2A1
• CTBP1
• CTNNB1 Gene Mutation
• CUL3
• DDX3X
• DNMT3A
• DSCAM
• DYRK1A
• FOXP1
• GRIN2A
• GRIN2B
• HIVEP2-Related Intellectual Disability
• HNRNPH2
• KATNAL2
• KDM5B
• KDM6B
• KMT2C Gene Mutation
• KMT2E
• KMT5B
• MBD5
• MED13L
• PACS1
• PPP2R5D-Related Intellectual Disability
• PTCHD1
• REST
• SCN2A Encephalopathy
• SETBP1 Gene Mutation
• SETD5
• SMARCA4 Gene Mutation
• SMARCC2
• STXBP1 Encephalopathy With Epilepsy
• SYNGAP1-Related Intellectual Disability
• TBR1
• ARHGEF9
• HNRNPU
• PPP3CA
• PPP2R1A
• SLC6A1
• 2p16.3 Deletions
• 5q35 Deletions
• 5q35 Duplications
• 7q11.23 Duplications
• 15Q13.3 Deletion Syndrome
• 16p11.2 Triplications
• 16P12.2 Microdeletion
• 16P13.11 Microdeletion Syndrome (Disorder)
• 17Q12 Microdeletion Syndrome (Disorder)
• 17Q12 Duplication Syndrome
• 17Q21.31 Deletion Syndrome
• 17q21.3 Duplications
• ACTB
• ADSL
• AFF2
• ALDH5A1
• ANK3
• ARX
• ATRX Gene Mutation
• AUTS2 Syndrome
• BCKDK
• BRSK2
• CACNA1C
• CAPRIN1
• CASK
• CASZ1
• CHD3
• CIC
• CNOT3
• CREBBP Gene Mutation
• CSDE1
• CTCF
• DEAF1
• DHCR7
• DLG4
• EBF3
• EHMT1
• EP300 Gene Mutation
• GIGYF1
• GRIN1
• GRIN2D
• IQSEC2-Related Syndromic Intellectual Disability
• IRF2BPL
• KANSL1
• KCNB1
• KDM3B
• NEXMIF
• KMT2A
• MBOAT7
• MEIS2
• MYT1L
• NAA15
• NBEA
• NCKAP1
• NIPBL
• NLGN2
• NLGN3
• NLGN4X
• NR4A2
• NRXN1
• NRXN2
• NSD1 Gene Mutation
• PHF21A
• PHF3
• PHIP
• POMGNT1
• PSMD12
• RELN
• RERE
• RFX3
• RIMS1
• RORB
• SCN1A
• SETD2 Gene Mutation
• SHANK2
• SIN3A
• SLC9A6
• SON
• SOX5
• SPAST
• SRCAP
• TAOK1
• TANC2
• TCF20
• TLK2
• TRIO
• TRIP12
• UPF3B
• USP9X
• VPS13B
• WAC
• WDFY3
• ZBTB20
• ZNF292
• ZNF462
• 2Q37 Deletion Syndrome
• 9q34 Duplications
• 15q15 Deletions
• 15Q24 Deletion
• NR3C2
• SYNCRIP
• 2q34 Duplication
• 2q37.3 Deletion
• 6q16 Deletion
• 15q11.2 BP1-BP2 Deletion
• 16p13.3 Deletion
• 17Q11.2 Microduplication Syndrome (Disorder)
• 17p13.3
• Xq28 Duplication
• CLCN4
• CSNK2B
• DYNC1H1
• EIF3F
• GNB1
• MED13
• MEF2C
• RALGAPB
• SCN1B
• YY1
• Xp11.22 Duplication
• PACS2
• MAOA
• MAOB
• HNRNPC
• HNRNPD
• HNRNPK
• HNRNPR
• HNRNPUL2
• 5P Deletion Syndrome
• TCF7L2 Gene Mutation
• HECW2

Sponsors & Collaborators

• Geisinger Clinic

  collaborator OTHER

• Boston Children's Hospital

  collaborator OTHER

• Simons Foundation

  collaborator OTHER

• Simons Searchlight

  lead OTHER

Principal Investigators

• Cora Taylor, PhD · Geisinger Clinic

• Wendy Chung, MD PhD · Boston Children's Hospital

Eligibility

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2010-10-31

Primary Completion

2050-10-31

Completion

2050-10-31

Countries

• United States

Study Locations