online study of people who have genetic changes and features of autism: simons searchlight

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

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.

simons searchlight has expanded over the last several years to include additional gene changes and participation through remote formats, either online or by phone. this allows english and spanish-speaking families from across the world to participate at times that are convenient to their schedule. participants can donate blood, saliva, or both. these samples are then linked to medical, behavioral, learning, and developmental data in order to understand the effects of specific gene changes. information provided by participants will be stripped of any personal identifying information and made available to qualified scientists around the world. the simons foundation, a new york-based private foundation, is committed to finding science-based solutions and working towards the development of targeted treatments to improve the lives of people who have genetic and developmental differences.

Eligibility criteria:
inclusion criteria: * subjects of any age with a genetic condition on our eligible list along with their biological family members. current list can be found at: https://www.simonssearchlight.org/research/what-we-study/ * must be fluent in english or a supported language. current supported languages are spanish, french, and dutch, with more to come. * able to register and participate through our online platform, which can be accessed through any device able to connect to the internet. * able and willing to provide consent. exclusion criteria: -some genetic changes that we study have regions or variants that are not eligible for our research. this is determined during our laboratory review that is completed by trained and certified genetic counselors. these specific ineligible regions or variants can change frequently.

Keywords: 16p11.2 16p11.2 del 16p11.2 deletion 16p11.2 dup 16p11.2 duplication chromosome 16 chromosome 16p chromosome 16p11 chromosome 16p11.2 1q21.1 1q21.1 del 1q21.1 deletion 1q21.1 dup 1q21.1 duplication chromosome 1 chromosome 1q chromosome 1q21 chromosome 1q21.1 genetic mutation genetic variant gene variant adnp ankrd11 arid1b asxl3 actl6b ahdc1 baf190 ank2 ash1l bcl11a chd2 chd8 ctnnb1 cul3 dyrk1a foxp1 grin2b kdm6b kmt2e mbd5 med13l rest scn2a smarcc2 syngap1 hivep2 hnrnph2 ppp2r5d champ1 csnk2a1 ctbp1 ddx3x dnmt3a dscam grin2a katnal2 kdm5b kmt2c kmt5b suv420h1 pacs1 ptchd1 setbp1 setd5 smarca4 stxbp1 tbr1 arhgef9 hnrnpu ppp2b ppp2r1a slc6a1 pacs2 maoa maob hnrnpc hnrnpd hnrnpk hnrnpr hnrnpul2 5p deletion syndrome tcf7l2 hecw2