To THE MISSION
To advance the awareness 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.
WHO WE ARE
We are 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, currently at 190. (To view an interactive world map with the locations of the 190 patients, please click HERE .) Linked to ADNPkids.com, we are the worlds leader for parent support.
ADNP GENE
The ADNP (activity dependent neuroprotective protein) gene is an extremely important 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.
The ADNP gene when mutated, causing ADNP Syndrome, is one of the top single gene causes of autism spectrum disorder (ASD). It is also the only protein significantly decreasing in the serum of Alzheimer's disease (AD)
ADNP SYNDROME
ADNP Syndrome (also known as Helsmoortel-VanDerAa Syndrome / HVDAS) is an extremely rare neurodevelopmental genetic disorder caused by a mutation or partial deletion in the ADNP (Activity Dependent Neuroprotective Protein) gene.
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.
DIAGNOSTIC TESTING
There is currently no single gene test for ADNP Syndrome. It can be identified using Whole Exome or Whole Genome Sequensing, however, ADNP has recently been placed into developmental and autism genetic panels at both GeneDx and Ambry Genetics.
ADDITIONAL INFORMATION
WHAT IS ADNP SYNDROME?
Here we describe the syndrome, gene and phenotype symptoms.
ADNP SYNDROME,
ADNP GENE,
PHENOTYPE SYMPTOMS
To advance the awareness 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.
WHO WE ARE
We are 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, currently at 190. (To view an interactive world map with the locations of the 190 patients, please click HERE .) Linked to ADNPkids.com, we are the worlds leader for parent support.
ADNP GENE
The ADNP (activity dependent neuroprotective protein) gene is an extremely important 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.
The ADNP gene when mutated, causing ADNP Syndrome, is one of the top single gene causes of autism spectrum disorder (ASD). It is also the only protein significantly decreasing in the serum of Alzheimer's disease (AD)
ADNP SYNDROME
ADNP Syndrome (also known as Helsmoortel-VanDerAa Syndrome / HVDAS) is an extremely rare neurodevelopmental genetic disorder caused by a mutation or partial deletion in the ADNP (Activity Dependent Neuroprotective Protein) gene.
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.
DIAGNOSTIC TESTING
There is currently no single gene test for ADNP Syndrome. It can be identified using Whole Exome or Whole Genome Sequensing, however, ADNP has recently been placed into developmental and autism genetic panels at both GeneDx and Ambry Genetics.
ADDITIONAL INFORMATION
WHAT IS ADNP SYNDROME?
Here we describe the syndrome, gene and phenotype symptoms.
ADNP SYNDROME,
ADNP GENE,
PHENOTYPE SYMPTOMS
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NAVIGATE Navigate collaboration between medical professionals, scientific researchers and families. |
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PROGRESS Progress toward improving the life of children living with this rare disease |
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
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