ADNP Kids Research Foundation
  • About Us
    • Our Mission Our Vision Our Goal >
      • 501(c)(3) Determination
    • Board of Directors
    • Medical and Scientific Advisory Board
  • WHAT IS ADNP
    • Newly Diagnosed
    • ADNP Syndrome Full Description
    • ADNP GENE
    • Phenotype/Symptoms List
  • Connect
    • Contact Registry
    • contact us
    • ADNP Family Conference >
      • HIGHLIGHTS- ADNP Syndrome Family Conference
      • TSA Travel Help
      • #CureADNP
  • RESEARCH
    • TREATMENT RESEARCH & DEVELOPMENT UPDATES
    • Seaver Autism Center
    • Ketamine Trial Phase 2
    • publications
  • NEWS
    • NET Collaboration Study
    • Glimpse of Hope For ADNP Patients
    • ketamine
    • 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
    • WARRIOR FUN RUN >
      • WARRIOR FUN RUN PHOTO RELEASE
Understanding ADNP Syndrome - also known as Helsmoortel-VanDerAa Syndrome

Awareness.  Research.  Support.  Hope.

NEWLY DIAGNOSED
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NEWLY DIAGNOSED
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WHO WE ARE 
The ADNP Kids Research Foundation is the worlds first non-profit organization to fund research, publish papers and promote awareness for ADNP Syndrome. We are a strong international patient focused organization with the largest collection of diagnosed patients worldwide, approximately 300.  We are focused on building a strong patient community and value the patients voice in research.  We strive to build a collaborative research network with all stakeholders in finding treatments and cures for ADNP Syndrome.  

OUR MISSION
To advance the awareness and understanding of ADNP Syndrome / Helsmoortel – Van Der Aa Syndrome (ADNP) by supporting research for treatments and drug development, increasing awareness and scientific understanding, promoting individualized specialty care and protocol, supporting families and providing information to help all individuals with ADNP realize their full potential and have a better quality of life.

​ADNP SYNDROME
ADNP Syndrome (also known as Helsmoortel-VanDerAa Syndrome / HVDAS) is an extremely rare neurodevelopmental and autism genetic brain disorder caused by a mutation or partial deletion in the ADNP (Activity Dependent Neuroprotective Protein) gene.  

The ADNP (activity dependent neuroprotective protein) gene is a master brain gene that is highly expressed. It affects brain formation, connectivity and development, as well as brain function and acts as protein-protecting nerve cells against electrical blockade (ie. protection against inability of nerve cells to communicate electrically). Studies have identified ADNP as a regulator of axonal transport, dendritic spine plasticity and autophagy. The ADNP gene also affects many other organs and functions of the body.  It is a top single gene cause of autism spectrum disorder (ASD) and is the only known protein significantly decreasing in the serum of Alzheimer's disease (AD).

ADNP Syndrome can cause problems with the neurological, cardiovascular, endocrine, immune, musculoskeletal and gastrointestinal systems, as well as vision, hearing, growth, feeding and sleep. Developmentally, it can cause mild to severe delays in intelligence, speech and global motor planning, (including gross motor, fine motor and oral motor). It causes behavior disorders such as Autism Spectrum Disorder (ASD) in a substantial proportion of cases. In fact, it is estimated: ADNP to be mutated in at least 0.17% of genetic autism cases, making it one of the most frequent ASD-associated genes known to date.

ADNP Syndrome is estimated to affect 1 in 27,000 children the United States and Europe. Males and females are both likely to be affected by this neuro-genetic disorder. (60% boys / 40% girls) However, the full extent of of ADNP Syndrome is still unknown.

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DIAGNOSTIC TESTING
There is currently no single gene test for ADNP Syndrome. It can be identified using Whole Exome or Whole Genome Sequencing, as well as lower cost genetic testing panels for neurodevelopmental and autism genetic disorders at many genetic labs such as  GeneDx and Ambry Genetics. ​
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We are committed to finding those who can contribute and assist in researching new treatments, pharmaceuticals and gene therapy to help ADNP children reach their full potential and live a better life".  Sandra Sermone, Founder & President, ADNP Kids Research Foundation   

OUR ADVOCACY AND RESEARCH PARTNERS
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HOME. ABOUT. RESEARCH. SUPPORT-US. PRIVACY-POLICY. ADNP SYNDROME. ADNP GENE. SYNDROME PHENOTYPE.


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
    • Our Mission Our Vision Our Goal >
      • 501(c)(3) Determination
    • Board of Directors
    • Medical and Scientific Advisory Board
  • WHAT IS ADNP
    • Newly Diagnosed
    • ADNP Syndrome Full Description
    • ADNP GENE
    • Phenotype/Symptoms List
  • Connect
    • Contact Registry
    • contact us
    • ADNP Family Conference >
      • HIGHLIGHTS- ADNP Syndrome Family Conference
      • TSA Travel Help
      • #CureADNP
  • RESEARCH
    • TREATMENT RESEARCH & DEVELOPMENT UPDATES
    • Seaver Autism Center
    • Ketamine Trial Phase 2
    • publications
  • NEWS
    • NET Collaboration Study
    • Glimpse of Hope For ADNP Patients
    • ketamine
    • 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
    • WARRIOR FUN RUN >
      • WARRIOR FUN RUN PHOTO RELEASE