Understanding ADNP Syndrome - also known as Helsmoortel-VanDerAa Syndrome
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ADNP SYNDROME (also known as Helsmoortel-VanDerAa Syndrome) is a rare and devastating pediatric neurodevelopmental disorder caused by a genetic mutation or deletion to the ADNP gene, which can manifest in a broad range of clinical symptoms and severity. ADNP GENE (Activity Dependent Neuroprotective Protein gene) is a one of the most critical brain genes because without ADNP, the brain would not form at all. It greatly impacts brain formation, connectivity, plasticity, development and function. The ADNP gene also affects many other organs and functions of the body. 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). Because of this, scientists believe that research of ADNP syndrome can lead to solving other brain disorders affecting millions, such as autism, Alzheimer's and more. |
SYMPTOMS
ADNP Syndrome can cause a multitude of medical problems within the neurological, cardiovascular, endocrine, immune, musculoskeletal, gastrointestinal, kidney/urinary and respiratory systems, as well as vision, hearing, growth, feeding and sleep. Many children develop absent seizures of absent like seizures early on, many develop epilepsy with some only having seizures at night. Brain degeneration, white matter loss and global diffused atrophy has also been seen in the more severe cases. Sepsis appears to be more prevalent and life threatening in children with ADNP and infections must be closely monitored. To date, 6 children have passed away with ADNP syndrome.
ADNP Syndrome can cause a multitude of medical problems within the neurological, cardiovascular, endocrine, immune, musculoskeletal, gastrointestinal, kidney/urinary and respiratory systems, as well as vision, hearing, growth, feeding and sleep. Many children develop absent seizures of absent like seizures early on, many develop epilepsy with some only having seizures at night. Brain degeneration, white matter loss and global diffused atrophy has also been seen in the more severe cases. Sepsis appears to be more prevalent and life threatening in children with ADNP and infections must be closely monitored. To date, 6 children have passed away with ADNP syndrome.
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Developmentally, ADNP 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. Autism does look different in children with ADNP, as the children tend to be very happy and social seeking with adults. Early rapid tooth eruption is also seen in a large percentage of patients.
The full extent of of ADNP Syndrome and life expectancy is still unknown and life threatening conditions 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. |
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WHO WE ARE
The ADNP Kids Research Foundation was established in 2016 by a mother whose child has ADNP Syndrome, with a dedicated mission to support children and families affected by this rare disorder, and to find effective treatments and ultimately, a cure. As the largest financial contributor to ADNP Syndrome research worldwide, we have donated nearly 2 million dollars to date, made possible by the generous donations of our families and friends. Our organization is entirely volunteer-run by parents who share a deep passion for their children and the need to find a cure for this debilitating condition. Our focus is on building a strong and supportive ADNP community, advocating for patients' voices in research and treatment, and fostering a patient-centered, collaborative international research network with all stakeholders. We believe that this approach is essential to identifying and developing effective treatments for ADNP Syndrome, and ultimately finding a cure. In addition, we are committed to increasing awareness of ADNP Syndrome, providing resources and support to families, and promoting individualized specialty care and protocols that will help all individuals with ADNP to realize their full potential and achieve a better quality of life. |
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OUR MISSION
Our foundation is dedicated to advancing the awareness and understanding of ADNP Syndrome through various initiatives. Our primary focus is to support and fund research for developing treatments and drugs to combat the syndrome. Additionally, we aim to increase awareness and scientific understanding of ADNP Syndrome, promote individualized specialty care and protocols, and provide support to families affected by the condition. We believe that every individual with ADNP Syndrome deserves the opportunity to realize their full potential and lead a better quality of life, and our foundation is committed to providing them with the necessary resources and information to do so. |
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KETAMINE DRUG TRIAL UPDATE
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ADNP is linked to other Major Brain disorders making it an excellent candidate for biotech investment:
ADNP has been found to be associated with other major brain disorders such as Autism, Alzheimer's, Schizophrenia, Parkinson's, and many other rare genetic conditions. This connection makes ADNP a promising candidate for biotech investment as it may hold the key to unlocking brain disorders that affect millions of people worldwide.
Studies have shown that ADNP dysfunction has been linked to various conditions such as Autism, Alzheimer's, Parkinson's, and Schizophrenia, suggesting that developing therapies for ADNP could also be applicable to more common disorders. As 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). Approximately half of the patients with ADNP are diagnosed with ASD, indicating that the prevalence of ADNP could be double the estimated 0.2% of all ASD cases. With the current prevalence of ASD in the US at 1 in 44 children, this single patient population could potentially be quite large for a rare disease.
Increasing reduced levels of ADNP protein expression may reverse ASD symptoms, making ADNP a viable drug target for ASD. ADNP is the only known serum reduced in Alzheimer's, so increasing ADNP expression could also be a potential drug target for AD.
ADNP syndrome is caused by just one singular gene, which contains 1102 amino acids. ADNP is part of the SWI/SNF complex and encompasses a number of autistic and intellectual disabilities. ADNP is also 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.
Overall, ADNP is a crucial gene to study and invest in for biotech development, as it holds the potential to unlock treatments for a range of major brain disorders affecting millions of people worldwide.
ADNP has been found to be associated with other major brain disorders such as Autism, Alzheimer's, Schizophrenia, Parkinson's, and many other rare genetic conditions. This connection makes ADNP a promising candidate for biotech investment as it may hold the key to unlocking brain disorders that affect millions of people worldwide.
Studies have shown that ADNP dysfunction has been linked to various conditions such as Autism, Alzheimer's, Parkinson's, and Schizophrenia, suggesting that developing therapies for ADNP could also be applicable to more common disorders. As 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). Approximately half of the patients with ADNP are diagnosed with ASD, indicating that the prevalence of ADNP could be double the estimated 0.2% of all ASD cases. With the current prevalence of ASD in the US at 1 in 44 children, this single patient population could potentially be quite large for a rare disease.
Increasing reduced levels of ADNP protein expression may reverse ASD symptoms, making ADNP a viable drug target for ASD. ADNP is the only known serum reduced in Alzheimer's, so increasing ADNP expression could also be a potential drug target for AD.
ADNP syndrome is caused by just one singular gene, which contains 1102 amino acids. ADNP is part of the SWI/SNF complex and encompasses a number of autistic and intellectual disabilities. ADNP is also 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.
Overall, ADNP is a crucial gene to study and invest in for biotech development, as it holds the potential to unlock treatments for a range of major brain disorders affecting millions of people worldwide.
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.
Back in 2014, when the ADNP syndrome was first discovered, we faced a daunting reality. There were no other patients in the entire country, no doctors who had any understanding of what ADNP was, no medical centers equipped to handle the syndrome, and no support groups for patients or parents. Additionally, there were no research or non-profit organizations, no treatments available, and no cure.
Despite all these setbacks, we refused to give in to the negativity of "no." We made a commitment to seek out and connect with individuals who could contribute to our mission of researching new treatments, pharmaceuticals, and gene therapy for ADNP children, so that they could reach their full potential and live a better life.
Today, we are proud to say that the ADNP Kids Research Foundation has made significant strides in this area. We continue to actively seek out partnerships with researchers, medical professionals, and other organizations to further our cause. Our ultimate goal is to ensure that no child with ADNP syndrome ever feels alone or helpless, and that they always have access to the support, care, and treatments they need to thrive.
Sandra Bedrosian Sermone, CEO/Founder ADNP Kids Research Foundation
Despite all these setbacks, we refused to give in to the negativity of "no." We made a commitment to seek out and connect with individuals who could contribute to our mission of researching new treatments, pharmaceuticals, and gene therapy for ADNP children, so that they could reach their full potential and live a better life.
Today, we are proud to say that the ADNP Kids Research Foundation has made significant strides in this area. We continue to actively seek out partnerships with researchers, medical professionals, and other organizations to further our cause. Our ultimate goal is to ensure that no child with ADNP syndrome ever feels alone or helpless, and that they always have access to the support, care, and treatments they need to thrive.
Sandra Bedrosian Sermone, CEO/Founder ADNP Kids Research Foundation
If you missed the “Advances in Autism” conference, 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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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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