ADNP Kids Research Foundation

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.

WHO WE ARE
The ADNP Kids Research Foundation was founded in 2016 by one ADNP mother with the sole mission to help children and families living with ADNP syndrome to find treatments and one day a cure. We are the worlds largest financial contributor of research for ADNP Syndrome, to date contributing almost 2 million dollars directly to our research projects, which we could not do without generous donations from our ADNP families and friends. We are a grassroots charity solely ran by parent volunteers, fueled by the love for our children with this debilitating rare disorder. We are focused on building a strong and supportive ADNP community and to 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.

KETAMINE DRUG TRIAL UPDATE

" IN 2014 WHEN THE SYNDROME WAS DISCOVERED 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,
and NO CURE!
'NO' WAS NOT AN OPTION!
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 Bedrosian Sermone, Mother to Tony, Founder, CEO - ADNP Kids Research Foundation

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.

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.

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 have a better quality of life, and that one day we WILL find a cure.

ADNP is linked to other Major Brain disorders making it an excellent candidate for biotech investment:
ADNP MAY HOLD THE KEY TO UNLOCKING BRAIN DISORDERS THAT AFFECT MILLIONS, INCLUDING AUTISM, ALZHEIMERS, SCHIZOPHRENIA, PARKINSON'S, AND MANY RARE GENETIC CONDITIONS.

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, 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), accounting for approximately 0.2% of all cases of ASD, and also neurodevelopmental/Intellectual disability. (ND/ID). Addtionally, approxcimatly half of patients with ADNP are diagnosed with ASD, so the prevalence could be double. The CDC current prevalence of ASD in the US is 1 in 44 children. Just this single patient population is potentially quite large for a rare disease.
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.
ADNP syndrome is caused by just one singular gene
ADNP protein contains 1102 amino acids (building blocks)
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.

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==

Click the logo to view our GuideStar Charity Check Report 2021 (may not be available on all mobile devises)

Click logo to make a donation through Network for Good to the ADNP Kids Research Foundation

OUR ADVOCACY AND RESEARCH PARTNERS

Research. Awareness. Support. Hope. Cure.