2-8-2020
FOR IMMEDIATE RELEASE:
Story for Rare Disease Day - February 29, 2020
FOR IMMEDIATE RELEASE:
Story for Rare Disease Day - February 29, 2020
Parents Find Glimpse of Hope For Treatment of Their Children's Rare Genetic Disorder Highly Linked to Autism.
SUMMARY:
It's a compelling story; parent learns their child has a life threatening rare disease with no cure, though not a scientist, embarks on a quest to find treatment. But most of those stories almost always fail and don't have happy endings because of the difficulty in getting large pharmaceutical companies to grab the very expensive baton of developing a new drug for a small rare disease affecting children.
Still some parents, like Sandra Sermone and Genie Egerton-Warburton, have chosen to take matters into their own hands to help their children who both suffer from a debilitating rare neurological genetic condition called ADNP syndrome.
This advocate-supermom-duo are thinking outside the box. They are working with scientists to accelerate drug development and have chosen to embark on the possibly quicker and somewhat less expensive route of repurposed drugs. Repurposed drugs come from investigating existing drugs for new therapeutic purposes, ones that are already FDA approved for another condition.
These moms dove headfirst into research, became experts of their child's syndrome, created a global research network, built a nonprofit foundation and are now maneuvering through the process of drug discovery and development, all in the last few years. They call themselves the Laverne and Shirley of ADNP and their motto is the shows theme song words "we're gonna do it, we're gonna make our dreams come true". Sermone says, "if we can improve the tiniest thing, and give these kids even a slightly brighter tomorrow than they have today, it will be a dream".
Currently, there's not one single FDA approved treatment available for children with ADNP Syndrome, and there is no cure. But recently, they have led a team at Mount Sinai to embark on a possible treatment of a repurposed drug; and this all happened in a very unique and surprising way; when they pulled their resources and started working with more parents of children with rare disease.
Through artificial intelligence, the team found a repurposed drug that showed a lot of promise, and just last week, the FDA gave approval to start a clinical trial on that repurposed drug, and they hope the trial will begin in the next few months. Now these moms are in a race against time to raise money for a drug trial that could improve the lives and challenges of the children who suffer with this condition.
Additionally, they want to raise global awareness about their children's rare disorder. Although ADNP Syndrome is a condition that affects many organs and systems of the body, including brain, heart, endocrine, developmental, etc., it recently was identified as one of the top genes linked to Autism in the largest genetic study of it's kind. Egerton-Warburton explains, "we are working directly with Dr. Joseph Buxbaum, the lead researcher of that study, and his team at Mount Sinai's Seaver Autism Center for Research and Treatment. We believe there could be thousands and thousands of children who have this genetic variant, and their families have no idea because they have not had genetic testing.'
ADNP Syndrome is caused by a non-hereditary genetic change, meaning it was not passed down by either parent, it is new and spontaneous in the child's DNA. Surprisingly, says Sermone, "most families have no idea there could be a genetic cause to some of these very common things we see in kids like autism and developmental delays. This can also clear up a lot of the misinformation that many of us are told. I want to get out there and say....'Hey, guess what? Autism isn't caused by lunch meat, caffeine or bad parenting, it’s not all vaccines; an important and very unknown component of it is GENETIC, some of which are 'spontaneous gene mutations' that occurred far before you ever drank that Starbucks latte while pregnant”.
The good news is, these moms say that children with ADNP mutations have some very easy to identify features in children that can be seen as young as 9-12 months old. It's a biomarker discovered by Sermone, and it is as simple to identify as a SMILE! (LINK to Announcement) Sermone explains, "81% of children with ADNP mutations had early tooth eruption, which is a diagnostic biomarker. So at around 7-9 months old, they started popping up baby teeth like crazy and by about 12 months old, they basically have a full mouth of baby teeth, including molars". How simple is that? Other features include, very happy demeanor, developmental delays, feeding difficulties, speech or intellectual delays, autistic traits like twirling fingers, rocking, spinning, putting everything in mouth, breath holding, disruptive sleep and most kids seem to love direct interaction with adults but not other children.
These Mom's believe that by sharing their story about the unique features of ADNP syndrome, families sitting in their living rooms across the country watching them describe their children, seeing their photos of the children who look and act so similar, that they will stop dead in their tracks and say, 'oh my God, this sounds just like my child'.
Why is this important to know? Sermone says, "because if your child had an ADNP mutation, we have two drugs in the pipeline."
So in honor of Rare Disease Day, these moms are on a mission to raise awareness of this rare genetic disorder called ADNP Syndrome, squash some of the inaccurate information floating around about causes of autism, raise awareness of the importance of genetic testing, and possibly help thousands of other children get diagnosed.
It's a compelling story; parent learns their child has a life threatening rare disease with no cure, though not a scientist, embarks on a quest to find treatment. But most of those stories almost always fail and don't have happy endings because of the difficulty in getting large pharmaceutical companies to grab the very expensive baton of developing a new drug for a small rare disease affecting children.
Still some parents, like Sandra Sermone and Genie Egerton-Warburton, have chosen to take matters into their own hands to help their children who both suffer from a debilitating rare neurological genetic condition called ADNP syndrome.
This advocate-supermom-duo are thinking outside the box. They are working with scientists to accelerate drug development and have chosen to embark on the possibly quicker and somewhat less expensive route of repurposed drugs. Repurposed drugs come from investigating existing drugs for new therapeutic purposes, ones that are already FDA approved for another condition.
These moms dove headfirst into research, became experts of their child's syndrome, created a global research network, built a nonprofit foundation and are now maneuvering through the process of drug discovery and development, all in the last few years. They call themselves the Laverne and Shirley of ADNP and their motto is the shows theme song words "we're gonna do it, we're gonna make our dreams come true". Sermone says, "if we can improve the tiniest thing, and give these kids even a slightly brighter tomorrow than they have today, it will be a dream".
Currently, there's not one single FDA approved treatment available for children with ADNP Syndrome, and there is no cure. But recently, they have led a team at Mount Sinai to embark on a possible treatment of a repurposed drug; and this all happened in a very unique and surprising way; when they pulled their resources and started working with more parents of children with rare disease.
Through artificial intelligence, the team found a repurposed drug that showed a lot of promise, and just last week, the FDA gave approval to start a clinical trial on that repurposed drug, and they hope the trial will begin in the next few months. Now these moms are in a race against time to raise money for a drug trial that could improve the lives and challenges of the children who suffer with this condition.
Additionally, they want to raise global awareness about their children's rare disorder. Although ADNP Syndrome is a condition that affects many organs and systems of the body, including brain, heart, endocrine, developmental, etc., it recently was identified as one of the top genes linked to Autism in the largest genetic study of it's kind. Egerton-Warburton explains, "we are working directly with Dr. Joseph Buxbaum, the lead researcher of that study, and his team at Mount Sinai's Seaver Autism Center for Research and Treatment. We believe there could be thousands and thousands of children who have this genetic variant, and their families have no idea because they have not had genetic testing.'
ADNP Syndrome is caused by a non-hereditary genetic change, meaning it was not passed down by either parent, it is new and spontaneous in the child's DNA. Surprisingly, says Sermone, "most families have no idea there could be a genetic cause to some of these very common things we see in kids like autism and developmental delays. This can also clear up a lot of the misinformation that many of us are told. I want to get out there and say....'Hey, guess what? Autism isn't caused by lunch meat, caffeine or bad parenting, it’s not all vaccines; an important and very unknown component of it is GENETIC, some of which are 'spontaneous gene mutations' that occurred far before you ever drank that Starbucks latte while pregnant”.
The good news is, these moms say that children with ADNP mutations have some very easy to identify features in children that can be seen as young as 9-12 months old. It's a biomarker discovered by Sermone, and it is as simple to identify as a SMILE! (LINK to Announcement) Sermone explains, "81% of children with ADNP mutations had early tooth eruption, which is a diagnostic biomarker. So at around 7-9 months old, they started popping up baby teeth like crazy and by about 12 months old, they basically have a full mouth of baby teeth, including molars". How simple is that? Other features include, very happy demeanor, developmental delays, feeding difficulties, speech or intellectual delays, autistic traits like twirling fingers, rocking, spinning, putting everything in mouth, breath holding, disruptive sleep and most kids seem to love direct interaction with adults but not other children.
These Mom's believe that by sharing their story about the unique features of ADNP syndrome, families sitting in their living rooms across the country watching them describe their children, seeing their photos of the children who look and act so similar, that they will stop dead in their tracks and say, 'oh my God, this sounds just like my child'.
Why is this important to know? Sermone says, "because if your child had an ADNP mutation, we have two drugs in the pipeline."
So in honor of Rare Disease Day, these moms are on a mission to raise awareness of this rare genetic disorder called ADNP Syndrome, squash some of the inaccurate information floating around about causes of autism, raise awareness of the importance of genetic testing, and possibly help thousands of other children get diagnosed.
These mothers have been featured on numerous news stories in the past, here are a few of the recent ones:
STORY PITCH:
Just last week, in a landmark genetic study of ASD, (CELL Journal) researchers identified the ADNP gene as one of the top genes related to ASD. Interestingly, most of the genes at the top of that list cause 'rare diseases' similar to ADNP Syndrome. But is it really as rare as everyone thinks? Dr. Buxbaum, the lead of that report doesn’t think so. He estimates that 1 in 20,000 could have an ADNP mutation causing autistic traits and/or developmental delays. Yes, I repeat, 1 in 20,000.
But the information on this study and the importance of genetic testing for some reason doesn't seem to make it's way to the millions of families living with these complex disorders. They have no idea that their child or family member could in fact have a genetic variant. "We need these families to hear about some of these genetic disorders like ADNP syndrome, but in a way that they can understand and relate to, because (1), medical publications are often scary with all of their big scary medical terminology, and (2), most families don't sit around reading the 'CELL journal', says Sermone.
So why is important to know for this story? Sermone says, "because we have two drugs in the pipeline that could help all of those people if they knew their child had an ADNP mutation” and she played played a huge role in bringing the first drug trail for their children and possibly others with autism to Mount Sinai.
It began last year when Sermone teamed up with another parent of a child with ADNP named Matt Davis. They started working together looking into repurposed drug development after a 2018 peptide trial stalled. During that time, Davis, who works as a neurosurgeon and researcher at the University of Alabama at Birmingham, was approached by a fellow UAB researcher, Matt Might, Ph.D., a computer scientist, who also knows Sermone. Might was working with artificial intelligence (AI) technology, to connect patients with possible treatment ideas. Might found some information on a few different compounds, and Sermone and Davis were off to the races!
Davis was able to pull relevant medical publications and compiled data and Sermone started attending biotech and drug development conferences. They researched hundreds of pages of medical literature, contacted and spoke to other scientists and collected relevant data to build a case for low-dose ketamine as quickly as they could. They strongly believe ketamine may help their children. In animal studies, low-dose ketamine has shown to increase ADNP expression, and the hope is if their children have a deficiency in the ADNP protein, this could increase the protein and possibly be therapeutic.
They took their findings to Dr. Buxbaum at Mount Sinai. His team, led by Dr. Alex Kolevzon, felt this could be a viable treatment and Kolevzon took the lead by submitting the study to the FDA in December. Last week they received a response from the FDA saying that the trial was safe to proceed with a study of ketamine as treatment of ADNP.
Just last week, in a landmark genetic study of ASD, (CELL Journal) researchers identified the ADNP gene as one of the top genes related to ASD. Interestingly, most of the genes at the top of that list cause 'rare diseases' similar to ADNP Syndrome. But is it really as rare as everyone thinks? Dr. Buxbaum, the lead of that report doesn’t think so. He estimates that 1 in 20,000 could have an ADNP mutation causing autistic traits and/or developmental delays. Yes, I repeat, 1 in 20,000.
But the information on this study and the importance of genetic testing for some reason doesn't seem to make it's way to the millions of families living with these complex disorders. They have no idea that their child or family member could in fact have a genetic variant. "We need these families to hear about some of these genetic disorders like ADNP syndrome, but in a way that they can understand and relate to, because (1), medical publications are often scary with all of their big scary medical terminology, and (2), most families don't sit around reading the 'CELL journal', says Sermone.
So why is important to know for this story? Sermone says, "because we have two drugs in the pipeline that could help all of those people if they knew their child had an ADNP mutation” and she played played a huge role in bringing the first drug trail for their children and possibly others with autism to Mount Sinai.
It began last year when Sermone teamed up with another parent of a child with ADNP named Matt Davis. They started working together looking into repurposed drug development after a 2018 peptide trial stalled. During that time, Davis, who works as a neurosurgeon and researcher at the University of Alabama at Birmingham, was approached by a fellow UAB researcher, Matt Might, Ph.D., a computer scientist, who also knows Sermone. Might was working with artificial intelligence (AI) technology, to connect patients with possible treatment ideas. Might found some information on a few different compounds, and Sermone and Davis were off to the races!
Davis was able to pull relevant medical publications and compiled data and Sermone started attending biotech and drug development conferences. They researched hundreds of pages of medical literature, contacted and spoke to other scientists and collected relevant data to build a case for low-dose ketamine as quickly as they could. They strongly believe ketamine may help their children. In animal studies, low-dose ketamine has shown to increase ADNP expression, and the hope is if their children have a deficiency in the ADNP protein, this could increase the protein and possibly be therapeutic.
They took their findings to Dr. Buxbaum at Mount Sinai. His team, led by Dr. Alex Kolevzon, felt this could be a viable treatment and Kolevzon took the lead by submitting the study to the FDA in December. Last week they received a response from the FDA saying that the trial was safe to proceed with a study of ketamine as treatment of ADNP.
Sandra Sermone and Genie Egerton-Warburton presenting the Mount Sinai team, including
Dr. Joseph Buxbaum and Dr. Alex Kolevzon, with a check for research.
STORY DETAILS:
Sermone’s son Tony was the first child in the world diagnosed in 2014 after the syndrome was discovered and Egerton-Warburton’s child was the 54th in the world. Within days she found Sermone and the two have been a duo of movement for ADNP.
So is it really that rare? Dr. Buxbaum doesn’t think so. He estimates that 1 in 20,000 could have an ADNP mutation causing autistic traits and developmental delays. Yes, I repeat, 1 in 20,000, yet only 250 have been diagnosed.
So why is important to know for this story? “Because there could be a potential drug in the near future that could help those children”, says Sermone.
These two moms have played a key part in bringing the first drug trail for their children and possibly others with autism to Mount Sinai, and the cherry on top, it was found by parents!
Sermone, along with another parent of a child with ADNP named Matt Davis, teamed up and started working together looking into repurposed drug development last year after a peptide trial stalled. They came across something very interesting, in a very unique way.
Davis, who works as a neurosurgeon and researcher at the University of Alabama at Birmingham, was approached by a fellow UAB researcher, Matt Might, Ph.D. Might, a computer scientist, who also knows Sermone, was working with artificial intelligence (AI) technology, to connect patients with possible treatments. Might found some information on a few different compounds, and Sermone and Davis were off to the races.
Davis was able to pull relevant medical publications and compiled data and Sermone started attending biotech and drug development conferences. They researched hundreds of pages of medical literature, contacted and spoke to other scientists and collected relevant data to build a case for low-dose ketamine as quickly as they could. They strongly believe ketamine may help their children. In animal studies, low-dose Ketamine has shown to increase ADNP expression, and the hope is if their children have a deficiency in the ADNP protein, this could increase the protein and possibly be therapeutic.
They took their findings to Dr. Buxbaum at Mount Sinai. His team, led by Dr. Alex Kolevzon, felt this could be a viable treatment and Kolevzon took the lead by submitting the study to the FDA in December. Last week they received a response from the FDA saying that the trial was safe to proceed with a study of Ketamine as treatment of ADNP.
Sermone’s son Tony was the first child in the world diagnosed in 2014 after the syndrome was discovered and Egerton-Warburton’s child was the 54th in the world. Within days she found Sermone and the two have been a duo of movement for ADNP.
So is it really that rare? Dr. Buxbaum doesn’t think so. He estimates that 1 in 20,000 could have an ADNP mutation causing autistic traits and developmental delays. Yes, I repeat, 1 in 20,000, yet only 250 have been diagnosed.
So why is important to know for this story? “Because there could be a potential drug in the near future that could help those children”, says Sermone.
These two moms have played a key part in bringing the first drug trail for their children and possibly others with autism to Mount Sinai, and the cherry on top, it was found by parents!
Sermone, along with another parent of a child with ADNP named Matt Davis, teamed up and started working together looking into repurposed drug development last year after a peptide trial stalled. They came across something very interesting, in a very unique way.
Davis, who works as a neurosurgeon and researcher at the University of Alabama at Birmingham, was approached by a fellow UAB researcher, Matt Might, Ph.D. Might, a computer scientist, who also knows Sermone, was working with artificial intelligence (AI) technology, to connect patients with possible treatments. Might found some information on a few different compounds, and Sermone and Davis were off to the races.
Davis was able to pull relevant medical publications and compiled data and Sermone started attending biotech and drug development conferences. They researched hundreds of pages of medical literature, contacted and spoke to other scientists and collected relevant data to build a case for low-dose ketamine as quickly as they could. They strongly believe ketamine may help their children. In animal studies, low-dose Ketamine has shown to increase ADNP expression, and the hope is if their children have a deficiency in the ADNP protein, this could increase the protein and possibly be therapeutic.
They took their findings to Dr. Buxbaum at Mount Sinai. His team, led by Dr. Alex Kolevzon, felt this could be a viable treatment and Kolevzon took the lead by submitting the study to the FDA in December. Last week they received a response from the FDA saying that the trial was safe to proceed with a study of Ketamine as treatment of ADNP.
SandraSermone and Dr. Alex Kolvezon/Mount Sinai, Dr. Raphael Bernier/Seattle Children’s Hospital and
Dr. Illana Gozes/Tel Aviv University, at a NAP pre-IND meeting at the FDA offices in D.C.
“Our children with this syndrome need treatments now! They suffer every day. This isn’t the gifted type of autism that you see on TV, my son is never going to be a doctor. Instead, he is like an infant trapped in an 11 year olds body, his brain is shrinking and he keeps loosing skills. It’s beyond heartbreaking and not at all the life we hoped for our son. But this is bigger than him now, because now we have 250 kids that I need to help. If we can improve the tiniest thing and give these kids even a slightly brighter tomorrow than they have today, it will be a dream”, says Sermone.
MEET THE MOMS:
Sandra Sermone is the mother of Tony, an 11 year old boy from Brush Prairie, Washington. Just five short years ago, Tony was one of the very first children in the world diagnosed with ADNP Syndrome months after it’s discovery. It was so new at the time, that it didn’t even have a name and very little was known about it. After Tony was diagnosed, Sandra came home armed with the one and only publication that existed on the syndrome. She dove in head first into research and became an expert of her child’s rare disorder. She began working with scientists around the world and started building an her research team. She has pioneered nearly everything informational that exists for ADNP syndrome; she created the first parent support group to find and connect families, built a strong international research network, created ADNPkids.com, which is the worlds first ADNP syndrome information website, and founded the ADNP Kids Research Foundation, which she runs as the CEO/President. She is not a doctor, but she built her own parent generated patient registry, joined forces to partner in larger studies and conducted her own research. She was so successful that she made the discovery of the very first diagnostic biomarker of ADNP syndrome. Because of her successful research and collaborations, she has been a co-author on 5 medical publications.
Genie Egerton-Warburton is a mother of a boy named Rowland from New York, New York, who was also diagnosed with ADNP Syndrome. Roland was the 54th child diagnosed and when he was, Genie immediately found and connected with Sandra and said that she wanted to help. Genie jumped in full speed and joined the ADNP Kids Research Foundation as the Vice President. She put her years of past PR experience to use and pulled her resources. She immediately started fundraising and contacted a friend who sits on the Board of Mount Sinai in New York who highly recommended their autism center. Having the same mindset to get involved with research, Genie went out and took the initiative to go after Mount Sinai, which houses some of the countries best genetic autism research specialists at the Seaver Autism Center for Research and Treatment and she convinced them to work on ADNP. Together, with the foundation, they started a groundbreaking study for ADNP Syndrome in 2018 that only two short years later has exceeded their expectations. “We would never have found the Seaver Autism Center if it were not for Genie and her husband” said Sermone.
Genie and Sandra are now on a mission to spread national awareness about ADNP syndrome and other genetic autism syndromes. With the support of Dr. Buxbaum and his team at Mount Sinai, they hope to build awareness of the importance of genetic testing.
They call themselves the “Laverne and Shirley of ADNP”, because the shows opening song ‘Give us any chance we'll take it, read us any rule we'll break it, we're going to make our dreams come true,’ is their theme song. "'Never heard the word impossible, this time, there’s no stopping us, we're gonna do it.’ is how we think and operate", says Genie Egerton-Warburton.
Sandra Sermone is the mother of Tony, an 11 year old boy from Brush Prairie, Washington. Just five short years ago, Tony was one of the very first children in the world diagnosed with ADNP Syndrome months after it’s discovery. It was so new at the time, that it didn’t even have a name and very little was known about it. After Tony was diagnosed, Sandra came home armed with the one and only publication that existed on the syndrome. She dove in head first into research and became an expert of her child’s rare disorder. She began working with scientists around the world and started building an her research team. She has pioneered nearly everything informational that exists for ADNP syndrome; she created the first parent support group to find and connect families, built a strong international research network, created ADNPkids.com, which is the worlds first ADNP syndrome information website, and founded the ADNP Kids Research Foundation, which she runs as the CEO/President. She is not a doctor, but she built her own parent generated patient registry, joined forces to partner in larger studies and conducted her own research. She was so successful that she made the discovery of the very first diagnostic biomarker of ADNP syndrome. Because of her successful research and collaborations, she has been a co-author on 5 medical publications.
Genie Egerton-Warburton is a mother of a boy named Rowland from New York, New York, who was also diagnosed with ADNP Syndrome. Roland was the 54th child diagnosed and when he was, Genie immediately found and connected with Sandra and said that she wanted to help. Genie jumped in full speed and joined the ADNP Kids Research Foundation as the Vice President. She put her years of past PR experience to use and pulled her resources. She immediately started fundraising and contacted a friend who sits on the Board of Mount Sinai in New York who highly recommended their autism center. Having the same mindset to get involved with research, Genie went out and took the initiative to go after Mount Sinai, which houses some of the countries best genetic autism research specialists at the Seaver Autism Center for Research and Treatment and she convinced them to work on ADNP. Together, with the foundation, they started a groundbreaking study for ADNP Syndrome in 2018 that only two short years later has exceeded their expectations. “We would never have found the Seaver Autism Center if it were not for Genie and her husband” said Sermone.
Genie and Sandra are now on a mission to spread national awareness about ADNP syndrome and other genetic autism syndromes. With the support of Dr. Buxbaum and his team at Mount Sinai, they hope to build awareness of the importance of genetic testing.
They call themselves the “Laverne and Shirley of ADNP”, because the shows opening song ‘Give us any chance we'll take it, read us any rule we'll break it, we're going to make our dreams come true,’ is their theme song. "'Never heard the word impossible, this time, there’s no stopping us, we're gonna do it.’ is how we think and operate", says Genie Egerton-Warburton.
Genie and Sandra at UCLA ADNP Conference
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Laverne & Shirley stock photo
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They also work with other organizations such as Autism Speaks, Simon’s Foundation SPARK for Autism project and the National Organization of Rare Disorders. They have even teamed up with groups like Global Genes and Uplifting Athletes #WeTackleRare, who honored one of their ADNP kids for the NFL event 'My Cleats My Cause' to bring awareness of rare disease. Sermone will be in DC for Rare Disease Week on Capital Hill, where she will advocate for children with this rare disorder.
Tony Sermone spreading rare disease awareness of ADNP with Seattle Seahawk NFL player Malik Turner
“The majority of parents in the United States do not realize that there could be an actual genetic cause to their child’s autism and developmental delays, and they don’t know why it’s important," says Egerton-Warburton. “There could be an actual genetic cause, like a change on their ADNP gene or one of the other 102 genes. These families could find out that it wasn’t caused by vaccines, eating fish while pregnant or anything they did wrong. It could actually be genetic and it might even have a treatment option in the near future. Can you imagine if there was a treatment option for your child that could help them, and you had no idea because your child was not correctly diagnosed? Genetic testing can take away that guess", says Sermone.
“1 in 20,000 - that means there are thousands of children with this disorder, most likely with milder cases, and there is an actual genetic cause for their autistic traits, sensory issues, developmental delays, intellectual delays, speech delays, happy demeanor, high pain threshold, sleep and feeding problems. Additionally, ADNP has a very unique biomarker. Children with ADNP have very early tooth eruption as well, so if an infant starts sprouting teeth with a vengeance and had a full mouth of teeth at 12-13 months old and has/had developmental delays and autism characteristics, they most likely have an ADNP mutation” says Sermone.
Genie Egerton-Warburton speaking at ADNP Family Conference
"This is a topic that affects millions of people, and like us prior to our children's diagnosis, we had no idea that a genetic mutation could cause something this profound” says Egerton-Warburton. She goes on to say, “we are positive, that if we could share this information, that parents, aunts, uncles, teachers, etc. around the country sitting in their living room watching our story might say ‘that sounds just like my child’ and get genetic testing. Thousands of families could get answers for their child’s autism”.
You can’t have science without people, you can’t have people without stories and you can’t have stories without science.
These moms are the people who are sharing their story to advance science!
CONTACT INFORMATION:
Sandra Sermone
President/CEO, ADNP Kids Research Foundation
[email protected]
Genie Egerton-Warburton
Vice President, ADNP Kids Research Foundation
[email protected]
ADDITIONAL INFORMATION:
*Dr. Joseph Buxbaum and Dr. Alex Kolevzon with Mount Sinai are both available for interviews regarding this story. Additional photos and video can also be shared.
ADNP SYNDROME:
ADNP Syndrome is an extremely rare neurodevelopmental genetic disorder caused by a change on the ADNP gene (one of the genes identified in the landmark study noted above), which is a master brain gene that affects brain formation, connectivity, development and function. It also regulates over 400 other genes and affects many different organs and functions of the body. This debilitating syndrome can cause problems with almost all systems of the body. Developmentally, it can cause delays in cognition, speech and global motor planning. ADNP is highly linked to autism as one of the top autism related genes. However, most children who are less affected have never had genetic testing and their families have no idea that there could be a genetic cause for their child’s autism or developmental delays.
You can’t have science without people, you can’t have people without stories and you can’t have stories without science.
These moms are the people who are sharing their story to advance science!
CONTACT INFORMATION:
Sandra Sermone
President/CEO, ADNP Kids Research Foundation
[email protected]
Genie Egerton-Warburton
Vice President, ADNP Kids Research Foundation
[email protected]
ADDITIONAL INFORMATION:
*Dr. Joseph Buxbaum and Dr. Alex Kolevzon with Mount Sinai are both available for interviews regarding this story. Additional photos and video can also be shared.
ADNP SYNDROME:
ADNP Syndrome is an extremely rare neurodevelopmental genetic disorder caused by a change on the ADNP gene (one of the genes identified in the landmark study noted above), which is a master brain gene that affects brain formation, connectivity, development and function. It also regulates over 400 other genes and affects many different organs and functions of the body. This debilitating syndrome can cause problems with almost all systems of the body. Developmentally, it can cause delays in cognition, speech and global motor planning. ADNP is highly linked to autism as one of the top autism related genes. However, most children who are less affected have never had genetic testing and their families have no idea that there could be a genetic cause for their child’s autism or developmental delays.
Really easy to understand BLOG explaining genetic mutations and the rarity of the disease:
How My Son Won The Mega Million Lottery Jackpot of Rare Disease.
BELOW PHOTOS
Photos below Tony Sermone, Benjamin Davis, Rolland Egerton-Warburton, and some of the other ADNP syndrome children from the ADNPkids.com website. We can get many more photos and live video of kids if needed for a story.
