" IN 2014 WE WERE TOLD NO
NO other patients in the entire country
NO doctors who understood what ADNP was
NO medical centers
NO patient or parent support groups
NO research or non-profit organizations
NO help
NO treatments
NO CURE!
NO WAS NOT AN OPTION "
Sandra Bedrosian Sermone, Mother to Tony, Founder - ADNP Kids Research Foundation
NO other patients in the entire country
NO doctors who understood what ADNP was
NO medical centers
NO patient or parent support groups
NO research or non-profit organizations
NO help
NO treatments
NO CURE!
NO WAS NOT AN OPTION "
Sandra Bedrosian Sermone, Mother to Tony, Founder - ADNP Kids Research Foundation
ADNP SYNDROME
ADNP Syndrome (also known as Helsmoortel-VanDerAa Syndrome / HVDAS) is an extremely rare genetic brain disorder caused by a mutation or deletion in the ADNP (Activity Dependent Neuroprotective Protein) gene.
The ADNP gene is a one of the most crucial brain genes as the brain would not form without it. It affects brain formation, connectivity, plasticity, development and function. The ADNP gene also affects many other organs and functions of the body.
Scientists believe that research of ADNP can lead to solving other brain disorders affecting millions, such as autism, Alzheimer's and more.
ADNP Syndrome can cause a multitude of medical problems within 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 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).
The full extent of of ADNP Syndrome and life expectancy is still unknown. To date, 4 children have sadly passed away and life threatening conditions such as brain degeneration, severe seizures and complex cardiac problems are seen in many of the children. These are the reasons why research for understanding the disease and finding treatments and a cure is so important.
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 by an ADNP mother, 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 genetic brain disorder caused by a mutation or deletion in the ADNP (Activity Dependent Neuroprotective Protein) gene.
The ADNP gene is a one of the most crucial brain genes as the brain would not form without it. It affects brain formation, connectivity, plasticity, development and function. The ADNP gene also affects many other organs and functions of the body.
Scientists believe that research of ADNP can lead to solving other brain disorders affecting millions, such as autism, Alzheimer's and more.
ADNP Syndrome can cause a multitude of medical problems within 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 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).
The full extent of of ADNP Syndrome and life expectancy is still unknown. To date, 4 children have sadly passed away and life threatening conditions such as brain degeneration, severe seizures and complex cardiac problems are seen in many of the children. These are the reasons why research for understanding the disease and finding treatments and a cure is so important.
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 by an ADNP mother, 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 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.
ADNP is linked to Major Brain disorders:
Research shows ADNP plays a major role in autism, Alzheimer's and schizophrenia. ADNP plays a critical role in the development of autism, accounting for approximately .2% of all ASD cases.
Research shows ADNP plays a major role in autism, Alzheimer's and schizophrenia. ADNP plays a critical role in the development of autism, accounting for approximately .2% of all ASD cases.
- ASD affects 1 out of 68 children in the United States alone.
- ADNP could be a viable drug target for ASD as increasing reduced levels of ADNP protein expression may reverse ASD symptoms.
- ADNP is the only known serum reduced in Alzheimer's so increasing ADNP expression could be a viable drug target for AD as well.
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.
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.
If you missed the “Advances in Autism” conference yesterday, you can rewatch it here on this link.
Move directly to 4:10:00 into the video to hear my talk about ADNP and collaboration with the Seaver Autism Center, or watch the many other amazing speakers, including one of our “Team ADNP” superhero’s, Dr. Ana Kostic, who speaks first.
All speakers talk for 25 minutes, and then there’s a short five minute Q&A. At the very end of the video, there is the large panel, including everyone together for a Panel Q&A.
In order to watch the video, sign in as an “unregistered viewer’, you don’t have to put your phone number or business you can just enter “none”.
HERE IS THE LINK:
https://media.rampard.com/WebcastingAppv5/Events/conferences/eventPage.jsp?Y2lk=MTIyMQ==
Move directly to 4:10:00 into the video to hear my talk about ADNP and collaboration with the Seaver Autism Center, or watch the many other amazing speakers, including one of our “Team ADNP” superhero’s, Dr. Ana Kostic, who speaks first.
All speakers talk for 25 minutes, and then there’s a short five minute Q&A. At the very end of the video, there is the large panel, including everyone together for a Panel Q&A.
In order to watch the video, sign in as an “unregistered viewer’, you don’t have to put your phone number or business you can just enter “none”.
HERE IS THE LINK:
https://media.rampard.com/WebcastingAppv5/Events/conferences/eventPage.jsp?Y2lk=MTIyMQ==
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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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Click the logo to view our GuideStar Charity Check Report 2021 (may not be available on all mobile devises)
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Click logo to make a donation through Network for Good to the ADNP Kids Research Foundation
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OUR ADVOCACY AND RESEARCH PARTNERS
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