ADNP Kids Research Foundation
  • About Us
    • What is ADNP
    • Our Story
    • Our Mission
    • Our Team >
      • Families >
        • Newly Diagnosed
        • ADNP Patient Registry
        • Contact Registry
        • Worldwide Parent Ambassadors
        • contact us
        • ADNP Family Conference >
          • HIGHLIGHTS- ADNP Syndrome Family Conference
          • TSA Travel Help
          • #CureADNP
    • Medical and Scientific Advisory Board
    • Inclusivity Statement
  • RESEARCH
    • Research Projects
    • Research Strategy
    • Ketamine Trial
    • Ketamine Trial Publication
    • Ketamine Update
    • Path to a cure
    • publications
  • NEWS
    • NET Collaboration Study
    • Ketamine Trial Phase 2 Announcement
    • Mount Sinai Launches First Drug Trial for ADNP Syndrome
    • Seaver Midtown Partnership
    • Biomarker Discovered
    • NEWS - p.Tyr719* Case Study
    • NEWS HIGHLIGHTS- ADNP Syndrome Family Conference
  • ADNP STORE
  • DONATE/SUPPORT
    • Boston Marathon
    • Third Party Fundraising
  • Warrior Fun Run 2022
    • Past Fun Run Pictures
    • Sponsorship Opportunity
  • Link Page
  • New Page

Research

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.   
  • 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. 
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.
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)
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All rights reserved. No portion of the content of this website may be reproduced in any manner without the written permission of the author/creator.   Any information used from this website must also have credit noted to ADNP Kids Research Foundation / www.adnpfoundation.org. The information on this website is not substitute for personal diagnosis or medical care advise. Families and patients should consult a medically qualified clinician in all matters relating to genetic diagnosis, management and health. Information on ADNP changes is a very fast-moving field and while the information in this guide is believed to be the best available at the time of publication, some facts may later be updated or change. Please see additional disclosures on our PRIVACY POLICY page.
  • About Us
    • What is ADNP
    • Our Story
    • Our Mission
    • Our Team >
      • Families >
        • Newly Diagnosed
        • ADNP Patient Registry
        • Contact Registry
        • Worldwide Parent Ambassadors
        • contact us
        • ADNP Family Conference >
          • HIGHLIGHTS- ADNP Syndrome Family Conference
          • TSA Travel Help
          • #CureADNP
    • Medical and Scientific Advisory Board
    • Inclusivity Statement
  • RESEARCH
    • Research Projects
    • Research Strategy
    • Ketamine Trial
    • Ketamine Trial Publication
    • Ketamine Update
    • Path to a cure
    • publications
  • NEWS
    • NET Collaboration Study
    • Ketamine Trial Phase 2 Announcement
    • Mount Sinai Launches First Drug Trial for ADNP Syndrome
    • Seaver Midtown Partnership
    • Biomarker Discovered
    • NEWS - p.Tyr719* Case Study
    • NEWS HIGHLIGHTS- ADNP Syndrome Family Conference
  • ADNP STORE
  • DONATE/SUPPORT
    • Boston Marathon
    • Third Party Fundraising
  • Warrior Fun Run 2022
    • Past Fun Run Pictures
    • Sponsorship Opportunity
  • Link Page
  • New Page