The ADNP Kids Research Foundation aims to ensure this devastating conditions receives the research attention and funding it requires and deserves.
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OUR RESEARCH STRATEGY
ADNP Kids Research Foundation has developed a research strategy that aims to maximize the impact of the funds we invest, and identifies research areas that provide the greatest scientific advances toward treatments, a cure and the most relevance for our families. |
OUR RESEARCH PROJECTS
The ADNP Kids Research Foundation is funding science to understand the biology of ADNP and identify innovative therapeutic strategies and a cure for all individuals around the world with ADNP syndrome.
The ADNP Kids Research Foundation is funding science to understand the biology of ADNP and identify innovative therapeutic strategies and a cure for all individuals around the world with ADNP syndrome.
- NOTE: We are a 100% volunteer-ran patient organization, we do not pay university overhead fees as part of our grants or sponsorships. If you are interested in discussing a grant opportunity please email admin@adnpfoundation.org.
OUR RESEARCH PLAN
The ADNP Kids Research Foundation is funding and collaborating with organizations who are running research projects and clinical trials, testing both existing drugs, as well as treatments - by way of; high throughput screening, gene therapies and antisense oligonucleotide therapies. Information about current projects can be found below and will be updated periodically.
The ADNP Kids Research Foundation is funding and collaborating with organizations who are running research projects and clinical trials, testing both existing drugs, as well as treatments - by way of; high throughput screening, gene therapies and antisense oligonucleotide therapies. Information about current projects can be found below and will be updated periodically.
OUR RESEARCH DATA
Data from the ADNP Kids Research Foundation Contact and Patient Registries show the following mutations. There are approximatly 200 more patients who have gone through our group site but have not registered, totalling an estimated 475 patients.
Data from the ADNP Kids Research Foundation Contact and Patient Registries show the following mutations. There are approximatly 200 more patients who have gone through our group site but have not registered, totalling an estimated 475 patients.
x p.K274NfsX311
20q13.13q12.2DELETION…...TOTAL…...(14)
c.1A>Gp.Met1…...TOTAL…...(1)
c.2T>Cp.? Q87.8…...TOTAL…...(1)
c.68T>Cp.(Leu23Pro)…...TOTAL…...(2)
c.14delCp.Pro5Leufs*8…...TOTAL…...(1)
c.56_57delTGp.V19EfsX5…...TOTAL…...(10)
c.64dupAlle22AsnfsTer3…...TOTAL…...(1)
c.79G>Ap.G27R…...TOTAL…...(1)
c.82_85delTTGGp.L28NfsX7…...TOTAL…...(1)
c.104_105del(I35Rfs*4)…...TOTAL…...(1)
c.106_107dup Asp37fs …...TOTAL…...(2)
c.118C>Tp.Q40X…...TOTAL…...(1)
c.138_139delp.Phe46Leufs*52…...TOTAL…...(1)
c.165delTp.Asp55fs…...TOTAL…...(1)
c.182dupC…...TOTAL…...(1)
c.201G>Cp.Q67H…...TOTAL…...(1)
c.202-5_202-del…...TOTAL…...(1)
c.216p.Arg216Ter…...TOTAL…...(1)
c.222dupTp.Phe742LeufsTer2…...TOTAL…...(1)
c.252delAp.Lys84AsnfsX77…...TOTAL…...(1)
c.284A>Gp.Asn95Ser…...TOTAL…...(1)
c.319delCp.Leu107fs…...TOTAL…...(1)
c.361_362 delL121 fs…...TOTAL…...(1)
c.362T>ALeu121…...TOTAL…...(1)
c.372_373delp.lle125*…...TOTAL…...(2)
c.399delCp.Ser134ala*27…...TOTAL…...(1)
c.405dupp.Pro136Thrfs*3…...TOTAL…...(1)
c.424dupp.Thr142Asnfs*5…...TOTAL…...(1)
c.454_466del13P.Leu152ArgfsX5…...TOTAL…...(1)
c.484C>Tp.Q162X…...TOTAL…...(1)
c.516>Ap.Tyr172*…...TOTAL…...(1)
c.517C>Tp.R173X…...TOTAL…...(1)
c.529T>Cp.Y177H…...TOTAL…...(1)
c.532dupp.Glu178Glyfs*4…...TOTAL…...(1)
c.539_542deITTAGp.(Val180Glyfs*17)…...TOTAL…...(1)
c.568C>Tp.Gln190Ter…...TOTAL…...(2)
c.593_542delP.Val180Glyfs*17…...TOTAL…...(1)
c.607A>Gp.K203E…...TOTAL…...(1)
c.609dupSer204llefs*17…...TOTAL…...(2)
c.613_616delL205Mfs*6…...TOTAL…...(3)
c.622dupp.Ala208Glyfs*13…...TOTAL…...(1)
c.673C>Tp.(Arg225Ter)…...TOTAL…...(2)
c.790C>Tp.Arg264*…...TOTAL…...(3)
c.819_820inTp.K274X…...TOTAL…...(1)
c.838_839delAGp.Ser280Hisfs*33…...TOTAL…...(1)
c.853_857delCCAAGp.Pro285AspfsX27…...TOTAL…...(1)
c.916C>Tp.Arg306Ter…...TOTAL…...(2)
c.922_923delp. S308Nfs*5…...TOTAL…...(1)
c.940_941delTTp.L314KfsX84…...TOTAL…...(1)
c.1035_1038delGTCAp.S346X…...TOTAL…...(2)
c.1046_1047delTGL349RfsX49…...TOTAL…...(1)
c.1102C>Tp.Gln368Ter…...TOTAL…...(2)
c.1106_1108delTACinsCTGTp.L369SfsXS30…...TOTAL…...(1)
c.1117G>T (Gly373*)20q13…...TOTAL…...(1)
c.1150C>Tp.(Gln384*)…...TOTAL…...(1)
c.1207_1208delTCp.Ser403IlefsX36…...TOTAL…...(1)
c.1211C>Ap.Ser404*…...TOTAL…...(2)
c.1222_1223delp.Lys408Valfs*31…...TOTAL…...(2)
c.1240_1241delp.Gln414ValfsTer25…...TOTAL…...(2)
c.1313delGp.G438VfsX40…...TOTAL…...(1)
c.1328_1332delTTAAp.Thr443Lysfs*9…...TOTAL…...(1)
c.1337G>ATrp446*…...TOTAL…...(1)
c.1365_*33delp.456Phe_1102Ala Del/Dup…...TOTAL…...(1)
c.1490A>GTyr497Cys…...TOTAL…...(1)
c.1534_1535dupCTp.Ser513CysfsTer37…...TOTAL…...(1)
c.1562_1571del10p.F521WfsX25…...TOTAL…...(1)
c.1633_1643p.Asp545Phefs*6…...TOTAL…...(1)
c.1707C>Ap.Tyr569Ter…...TOTAL…...(2)
c.1792C>Tp.Q598X…...TOTAL…...(1)
C.1807_1808dupP.pro604serfster3…...TOTAL…...(1)
c.1855G>Tp.V619F…...TOTAL…...(2)
c.1876_1892del17p.L626KfsX6…...TOTAL…...(1)
c.190dupAp.T64NfsX35…...TOTAL…...(2)
c.1922A>Gp.His641Arg…...TOTAL…...(1)
c.1929dupp.(R644Tfs*14)…...TOTAL…...(1)
c.2000G>Ap.C667Y…...TOTAL…...(1)
c.2130delAinsCA / c.2129dupCp.Ser711LysfsTer24…...TOTAL…...(1)
c.2156_2157insAp.Tyr719*…...TOTAL…...(2)
c.2156dupp.Tyr719*…...TOTAL…...(8)
c.2156dupAp.Tyr719*…...TOTAL…...(8)
c.2157C>Ap.Tyr719*…...TOTAL…...(7)
c.2157C>Gp.Tyr719*…...TOTAL…...(32)
c.2157C>Tp. Tyr719*…...TOTAL…...(1)
c.2157delCp.Tyr719*…...TOTAL…...(1)
c.2158G>TGlu720Ter…...TOTAL…...(1)
c.2161C>Tp.Gin721*…...TOTAL…...(1)
c.2167delGp.(Glu723Asnfs*5)…...TOTAL…...(1)
c.2175delCp.Leu726TyrfsX2…...TOTAL…...(1)
c.2184_2188delArg730fs…...TOTAL…...(1)
c.2187dupAp.R730TfsX5…...TOTAL…...(2)
c.2188C>Tp.Arg730*…...TOTAL…...(22)
c.2189delGp.Arg730G1nfs*2…...TOTAL…...(1)
c.2194_2197delTTAGp.L732MfsX20…...TOTAL…...(3)
c.2195T>Gp.Leu732* …...TOTAL…...(1)
c.2212dupTp.Ser738Phefs*6…...TOTAL…...(1)
c.2213C>Ap.S738X…...TOTAL…...(8)
c.2229delp.Glu744argfs*9…...TOTAL…...(1)
c.2230G>Tp.E744X…...TOTAL…...(2)
C.2239G>TP.e747x…...TOTAL…...(1)
c.2250_2274delp.V751fs…...TOTAL…...(1)
c.2251delGinsTAAAp.Val751*…...TOTAL…...(1)
c.2268dupCp.K757QfsX4…...TOTAL…...(1)
c.2287delTp.Ser763ProfsX9…...TOTAL…...(3)
c.2318delp.Lys773SerfsTer17…...TOTAL…...(1)
c.2340T>GP.Tyr780*…...TOTAL…...(1)
c.2355_2356delAAp.Glu785AspfsTer2…...TOTAL…...(1)
c.2419_2423delAAAAGp.Lys807Glufs*6…...TOTAL…...(2)
c.2424_2427delGAAG / TCTTC>Tp. Lys809Serfs*19…...TOTAL…...(1)
c.2491 2494 del TTAAp.(Leu831fsTer81)…...TOTAL…...(7)
c.2495_2499delp.Asn832Lyfsf*81…...TOTAL…...(1)
c.2496_2499delp.Asn832LysfsTer81…...TOTAL…...(17)
c.2630_2633delACAGp.Asp877VaifsX36…...TOTAL…...(1)
c.2707_2710delTTAALeu903IlefsTer82…...TOTAL…...(1)
c.2865_2868delP.(S955Rfs*36)…...TOTAL…...(1)
c.2866_2868delp.Ser955Argfs*36…...TOTAL…...(1)
c.2971_2979delp.MET991_Pro993del…...TOTAL…...(2)
c.3071_3072delGlu1024Alafs*7…...TOTAL…...(1)
c.3077_3078insATTTP.(lys1027phefs*6)…...TOTAL…...(1)
c.3248dupGp.V1084AfsX3…...TOTAL…...(1)
c.3293G>Ap.Ser1098Asn …...TOTAL…...(1)
chr20:50.892.214 - 50.892.218p.Asn832Lysfs*81 ENST00000349014…...TOTAL…...(1)
Chr20:50.892.382 G>Ap.Gen778*ENST00000349014…...TOTAL…...(1)
T2322GY774X…...TOTAL…...(1)
20q13.13q12.2DELETION…...TOTAL…...(14)
c.1A>Gp.Met1…...TOTAL…...(1)
c.2T>Cp.? Q87.8…...TOTAL…...(1)
c.68T>Cp.(Leu23Pro)…...TOTAL…...(2)
c.14delCp.Pro5Leufs*8…...TOTAL…...(1)
c.56_57delTGp.V19EfsX5…...TOTAL…...(10)
c.64dupAlle22AsnfsTer3…...TOTAL…...(1)
c.79G>Ap.G27R…...TOTAL…...(1)
c.82_85delTTGGp.L28NfsX7…...TOTAL…...(1)
c.104_105del(I35Rfs*4)…...TOTAL…...(1)
c.106_107dup Asp37fs …...TOTAL…...(2)
c.118C>Tp.Q40X…...TOTAL…...(1)
c.138_139delp.Phe46Leufs*52…...TOTAL…...(1)
c.165delTp.Asp55fs…...TOTAL…...(1)
c.182dupC…...TOTAL…...(1)
c.201G>Cp.Q67H…...TOTAL…...(1)
c.202-5_202-del…...TOTAL…...(1)
c.216p.Arg216Ter…...TOTAL…...(1)
c.222dupTp.Phe742LeufsTer2…...TOTAL…...(1)
c.252delAp.Lys84AsnfsX77…...TOTAL…...(1)
c.284A>Gp.Asn95Ser…...TOTAL…...(1)
c.319delCp.Leu107fs…...TOTAL…...(1)
c.361_362 delL121 fs…...TOTAL…...(1)
c.362T>ALeu121…...TOTAL…...(1)
c.372_373delp.lle125*…...TOTAL…...(2)
c.399delCp.Ser134ala*27…...TOTAL…...(1)
c.405dupp.Pro136Thrfs*3…...TOTAL…...(1)
c.424dupp.Thr142Asnfs*5…...TOTAL…...(1)
c.454_466del13P.Leu152ArgfsX5…...TOTAL…...(1)
c.484C>Tp.Q162X…...TOTAL…...(1)
c.516>Ap.Tyr172*…...TOTAL…...(1)
c.517C>Tp.R173X…...TOTAL…...(1)
c.529T>Cp.Y177H…...TOTAL…...(1)
c.532dupp.Glu178Glyfs*4…...TOTAL…...(1)
c.539_542deITTAGp.(Val180Glyfs*17)…...TOTAL…...(1)
c.568C>Tp.Gln190Ter…...TOTAL…...(2)
c.593_542delP.Val180Glyfs*17…...TOTAL…...(1)
c.607A>Gp.K203E…...TOTAL…...(1)
c.609dupSer204llefs*17…...TOTAL…...(2)
c.613_616delL205Mfs*6…...TOTAL…...(3)
c.622dupp.Ala208Glyfs*13…...TOTAL…...(1)
c.673C>Tp.(Arg225Ter)…...TOTAL…...(2)
c.790C>Tp.Arg264*…...TOTAL…...(3)
c.819_820inTp.K274X…...TOTAL…...(1)
c.838_839delAGp.Ser280Hisfs*33…...TOTAL…...(1)
c.853_857delCCAAGp.Pro285AspfsX27…...TOTAL…...(1)
c.916C>Tp.Arg306Ter…...TOTAL…...(2)
c.922_923delp. S308Nfs*5…...TOTAL…...(1)
c.940_941delTTp.L314KfsX84…...TOTAL…...(1)
c.1035_1038delGTCAp.S346X…...TOTAL…...(2)
c.1046_1047delTGL349RfsX49…...TOTAL…...(1)
c.1102C>Tp.Gln368Ter…...TOTAL…...(2)
c.1106_1108delTACinsCTGTp.L369SfsXS30…...TOTAL…...(1)
c.1117G>T (Gly373*)20q13…...TOTAL…...(1)
c.1150C>Tp.(Gln384*)…...TOTAL…...(1)
c.1207_1208delTCp.Ser403IlefsX36…...TOTAL…...(1)
c.1211C>Ap.Ser404*…...TOTAL…...(2)
c.1222_1223delp.Lys408Valfs*31…...TOTAL…...(2)
c.1240_1241delp.Gln414ValfsTer25…...TOTAL…...(2)
c.1313delGp.G438VfsX40…...TOTAL…...(1)
c.1328_1332delTTAAp.Thr443Lysfs*9…...TOTAL…...(1)
c.1337G>ATrp446*…...TOTAL…...(1)
c.1365_*33delp.456Phe_1102Ala Del/Dup…...TOTAL…...(1)
c.1490A>GTyr497Cys…...TOTAL…...(1)
c.1534_1535dupCTp.Ser513CysfsTer37…...TOTAL…...(1)
c.1562_1571del10p.F521WfsX25…...TOTAL…...(1)
c.1633_1643p.Asp545Phefs*6…...TOTAL…...(1)
c.1707C>Ap.Tyr569Ter…...TOTAL…...(2)
c.1792C>Tp.Q598X…...TOTAL…...(1)
C.1807_1808dupP.pro604serfster3…...TOTAL…...(1)
c.1855G>Tp.V619F…...TOTAL…...(2)
c.1876_1892del17p.L626KfsX6…...TOTAL…...(1)
c.190dupAp.T64NfsX35…...TOTAL…...(2)
c.1922A>Gp.His641Arg…...TOTAL…...(1)
c.1929dupp.(R644Tfs*14)…...TOTAL…...(1)
c.2000G>Ap.C667Y…...TOTAL…...(1)
c.2130delAinsCA / c.2129dupCp.Ser711LysfsTer24…...TOTAL…...(1)
c.2156_2157insAp.Tyr719*…...TOTAL…...(2)
c.2156dupp.Tyr719*…...TOTAL…...(8)
c.2156dupAp.Tyr719*…...TOTAL…...(8)
c.2157C>Ap.Tyr719*…...TOTAL…...(7)
c.2157C>Gp.Tyr719*…...TOTAL…...(32)
c.2157C>Tp. Tyr719*…...TOTAL…...(1)
c.2157delCp.Tyr719*…...TOTAL…...(1)
c.2158G>TGlu720Ter…...TOTAL…...(1)
c.2161C>Tp.Gin721*…...TOTAL…...(1)
c.2167delGp.(Glu723Asnfs*5)…...TOTAL…...(1)
c.2175delCp.Leu726TyrfsX2…...TOTAL…...(1)
c.2184_2188delArg730fs…...TOTAL…...(1)
c.2187dupAp.R730TfsX5…...TOTAL…...(2)
c.2188C>Tp.Arg730*…...TOTAL…...(22)
c.2189delGp.Arg730G1nfs*2…...TOTAL…...(1)
c.2194_2197delTTAGp.L732MfsX20…...TOTAL…...(3)
c.2195T>Gp.Leu732* …...TOTAL…...(1)
c.2212dupTp.Ser738Phefs*6…...TOTAL…...(1)
c.2213C>Ap.S738X…...TOTAL…...(8)
c.2229delp.Glu744argfs*9…...TOTAL…...(1)
c.2230G>Tp.E744X…...TOTAL…...(2)
C.2239G>TP.e747x…...TOTAL…...(1)
c.2250_2274delp.V751fs…...TOTAL…...(1)
c.2251delGinsTAAAp.Val751*…...TOTAL…...(1)
c.2268dupCp.K757QfsX4…...TOTAL…...(1)
c.2287delTp.Ser763ProfsX9…...TOTAL…...(3)
c.2318delp.Lys773SerfsTer17…...TOTAL…...(1)
c.2340T>GP.Tyr780*…...TOTAL…...(1)
c.2355_2356delAAp.Glu785AspfsTer2…...TOTAL…...(1)
c.2419_2423delAAAAGp.Lys807Glufs*6…...TOTAL…...(2)
c.2424_2427delGAAG / TCTTC>Tp. Lys809Serfs*19…...TOTAL…...(1)
c.2491 2494 del TTAAp.(Leu831fsTer81)…...TOTAL…...(7)
c.2495_2499delp.Asn832Lyfsf*81…...TOTAL…...(1)
c.2496_2499delp.Asn832LysfsTer81…...TOTAL…...(17)
c.2630_2633delACAGp.Asp877VaifsX36…...TOTAL…...(1)
c.2707_2710delTTAALeu903IlefsTer82…...TOTAL…...(1)
c.2865_2868delP.(S955Rfs*36)…...TOTAL…...(1)
c.2866_2868delp.Ser955Argfs*36…...TOTAL…...(1)
c.2971_2979delp.MET991_Pro993del…...TOTAL…...(2)
c.3071_3072delGlu1024Alafs*7…...TOTAL…...(1)
c.3077_3078insATTTP.(lys1027phefs*6)…...TOTAL…...(1)
c.3248dupGp.V1084AfsX3…...TOTAL…...(1)
c.3293G>Ap.Ser1098Asn …...TOTAL…...(1)
chr20:50.892.214 - 50.892.218p.Asn832Lysfs*81 ENST00000349014…...TOTAL…...(1)
Chr20:50.892.382 G>Ap.Gen778*ENST00000349014…...TOTAL…...(1)
T2322GY774X…...TOTAL…...(1)