Understanding ADNP Syndrome - also known as Helsmoortel-VanDerAa Syndrome
Research. Awareness. Support. Hope. Cure.
ADNP Summary:
- ADNP is a neurological orphan disorder caused by a mutation or deletion in the Activity Dependent Neuroprotective Protein gene.
- ADNP protein expression is essential for brain formation and cognitive function and ADNP is dysregulated in a variety of neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease and Schizophrenia, making it one of the most important brain genes to study.
- ADNP syndrome is one of the most common single-gene causes of autism spectrum disorder (ASD) and neurodevelopmental/Intellectual disability. (ND/ID).
- ASD is present in one-half to two-thirds of individuals with ADNP syndrome and accounts for approximately 0.2% of all cases of ASD.
- ADNP codes for activity dependent neuroprotective protein, a ubiquitously expressed protein involved in chromatin remodeling and synaptic function.
- ADNP syndrome is an autosomal dominant neurodevelopmental disorder characterized by mild-to-severe intellectual disability, autism, speech and motor planning delays, feeding disorders, sleep problems, epilepsy and a variety of other medical comorbidities.
Why ADNP is an excellent candidate for biotech investment:
ADNP HOLDS THE KEY TO UNLOCK BRAIN DISORDERS AFFECTING MILLIONS, INCLUDING AUTISM, ALZHEIMER'S, SCHIZOPHRENIA, PARKINSON'S AND MANY RARE GENETIC CONDITIONS SUCH AS ANGELMAN, FOXG1, GOXP1, SYNGAP AND MANY MORE.
ADNP HOLDS THE KEY TO UNLOCK BRAIN DISORDERS AFFECTING MILLIONS, INCLUDING AUTISM, ALZHEIMER'S, SCHIZOPHRENIA, PARKINSON'S AND MANY RARE GENETIC CONDITIONS SUCH AS ANGELMAN, FOXG1, GOXP1, SYNGAP AND MANY MORE.
- ADNP syndrome is caused by just one singular gene - ADNP.
- ADNP protein contains 1102 amino acids (building blocks).
- ADNP is a relatively small gene (approximately 40 kilobases) so it can fit in most viral vectors for gene therapy.
- ADNP gene is highly conserved among vertebrates and abundantly expressed in the hippocampus, cerebral cortex and cerebellum, as well as the heart, skeletal muscle, kidney, placenta and lyphocytes.
- ADNP is expressed in many cells outside of the brain so drugs can be delivered to these other areas that could be much easier than delivering to the brain.
- ADNP dysfunction has been linked to various other conditions like AUTISM, ALZHEIMER'S, PARKINSON'S AND SCHIZOPHRENIA, suggesting that therapy development may be transferable to more common disorders.
- ADNP is part of the SWI/SNF complex and encompasses a number of autistic and intellectual disabilities.
- ADNP is the first Mendelian/Monogenic condition with two distinct episignatures caused by mutations in a single gene. These highly sensitive and specific DNA methylation episignatures enable diagnosis, screening, and genetic variant classification in ADNP syndrome.
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. Established in 2016, we are a small grassroots charity solely ran by volunteers, fueled by families and the love for our children with this debilitating rare disorder.
We are a small but strong international patient focused organization with the largest collection of diagnosed patients worldwide, approximately 300. We are focused on building a strong and supportive ADNP community and advocate for the patients voice in research and treatment.
We strive to create a patient centered collaborative international research network with all stakeholders to find treatments and a cure for ADNP Syndrome.
OUR MISSION
The mission of our foundation is to advance the awareness and understanding of ADNP Syndrome by supporting and funding 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.
It's our belief that with the ADNP community support and aggressive medical research looking into ALL areas of treatment, that we will find ways to help every child and adult with ADNP syndrome have the opportunity to reach their full potential and have a better quality of life, and that one day we WILL find a cure..
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 deletion in the ADNP (Activity Dependent Neuroprotective Protein) gene.
The ADNP gene is a crucial 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). It codes for ADNP, a ubiquitously expressed protein involved in chromatin remodeling and synaptic function. 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.
ADNP Syndrome can cause a multitude of problems with the neurological, cardiovascular, endocrine, immune, musculoskeletal, gastrointestinal and excretory 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 and Sensory Processing Disorder in a substantial proportion of cases. Recent studies have placed the ADNP gene as a top single gene genetic cause of autism spectrum disorder (ASD) and accounts for approximately 0.2% of all cases of ASD. It is also the only known protein significantly decreasing in the serum of Alzheimer's disease (AD).
ADNP Syndrome is estimated to affect 1 in 20,000 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.
The ADNP Kids Research Foundation is the worlds first non-profit organization to fund research, publish papers and promote awareness for ADNP Syndrome. Established in 2016, we are a small grassroots charity solely ran by volunteers, fueled by families and the love for our children with this debilitating rare disorder.
We are a small but strong international patient focused organization with the largest collection of diagnosed patients worldwide, approximately 300. We are focused on building a strong and supportive ADNP community and advocate for the patients voice in research and treatment.
We strive to create a patient centered collaborative international research network with all stakeholders to find treatments and a cure for ADNP Syndrome.
OUR MISSION
The mission of our foundation is to advance the awareness and understanding of ADNP Syndrome by supporting and funding 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.
It's our belief that with the ADNP community support and aggressive medical research looking into ALL areas of treatment, that we will find ways to help every child and adult with ADNP syndrome have the opportunity to reach their full potential and have a better quality of life, and that one day we WILL find a cure..
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 deletion in the ADNP (Activity Dependent Neuroprotective Protein) gene.
The ADNP gene is a crucial 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). It codes for ADNP, a ubiquitously expressed protein involved in chromatin remodeling and synaptic function. 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.
ADNP Syndrome can cause a multitude of problems with the neurological, cardiovascular, endocrine, immune, musculoskeletal, gastrointestinal and excretory 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 and Sensory Processing Disorder in a substantial proportion of cases. Recent studies have placed the ADNP gene as a top single gene genetic cause of autism spectrum disorder (ASD) and accounts for approximately 0.2% of all cases of ASD. It is also the only known protein significantly decreasing in the serum of Alzheimer's disease (AD).
ADNP Syndrome is estimated to affect 1 in 20,000 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 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.
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
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OUR ADVOCACY AND RESEARCH PARTNERS
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