On June 22nd, over 200 participants showed their support for Pitt Hopkins Syndrome at the 4th annual Race for Rylie event held at Nockamixon State Park in Pennsylvania.
The three main events included a 5K, a 1 mile kid fun run, and a non-competitive walk all happening along Lake Nockamixon with beautiful views of the marina. Participants enjoyed music by DJ Reilly, a raffle, games, and glitter tattoos. In addition to Rylie’s family, two other PTHS families were in attendance including Emma and Anthony’s families from New Jersey. Highlights of the day included Rylie’s dad, Jack, pushing her in his first ever 5K, Rylie’s 2 year old little sister, Lily, running in the kid run, Emma riding her adapted trike and Anthony taking his own strides for independence in the noncompetiive walk. This year Race for Rylie raised $11,320.00 for the Pitt Hopkins Syndrome Research Foundation. Rylie and family would like to thank the volunteers, sponsors, and participants for their continued support of this amazing cause!
Families from Michigan, Wisconsin, and Indiana represented the 4th Annual Michigan 5K and it was a spectacular day! With the sun shining upon us, Olivia, Jessi, Lilly, and Adalyn kept our gracious supporters smiling. What a blessing, to touch peoples lives and have them touch yours. The human kindness, community spirit, and the abundance of love left us more hopeful for our children’s future. Raising nearly $8,000 was amazing and our best year yet! Thank you for giving our children opportunity, for putting your hard earned dollars into our children’s lives, and for believing in what we do.
Benefit for 4-year-old Beloiter
Posted: Thursday, June 20, 2013 4:00 pmBy Hillary Gavan hgavan@beloitdailynews.com
Adalyn Chadwick: 4-year-old Adalyn Chadwick was recently diagnosed with Pitt Hopkins Syndrome. Papa Murphy’s Pizza is hosting a fundraising event Monday from 4 – 8 p.m.
The family of 4-year-old Adalyn Chadwick is inviting the community to buy a Papa Murphy’s Pizza between 4 – 8 p.m. on Monday to help raise funds to benefit the Pitt Hopkins Research Foundation.
Approximately 20 percent of proceeds from sales during the “dough raising” will go toward the Foundation, which uses 100 percent of its proceeds to pay for research.
Recently Adalyn was diagnosed with Pitt Hopkins Syndrome, one of the rarest conditions in the world. She is the daughter of Brian and Nicole Chadwick and sister of 14-year-old Austin.
“There are less than 250 cases reported worldwide and only 100 cases in the U.S.,” her mom, Nicole, said.
Pitt Hopkins Syndrome (or PTHS) is a neurodevelopmental disorder. Even though the cause of PTHS is known, there are currently no pharmaceutical treatments available for this disorder. The Pitt Hopkins Foundation is committed to accelerating progress toward effective treatments and ultimately a cure for PTHS, by directly funding the most promising research, according to its website at www.http://pitthopkins.org.
In children with PTHS a change in the TCF4 gene on chromosome 18 can be present. TCF4 is an important gene because it codes for the protein TCF4, which is very important for the development of the brain.
Nicole said Pitt Hopkins Syndrome was only discovered in 1978, and is only a blood test available to confirm the diagnosis.
People with Pitt-Hopkins syndrome have intellectual disabilities and developmental delays. Most affected individuals do not learn to walk unassisted and people with this condition typically do not develop speech or may learn just a few words, according to the National Institutes of Health.
Although Adalyn’s family knows about her condition now, for years they tried to figure out what was challenging her. Adalyn didn’t walk until she was three-and-half, and still doesn’t talk.
When she was six months old, her mother was concerned her daughter wasn’t hitting any milestones. She brought up her concerns to doctors, who would just tell her kids develop differently. Finally, the family went to Milwaukee Children’s Hospital where Adalyn was given a diagnosis of autism and began therapy.
However, her mother still felt the diagnosis wasn’t accurate. She began watching hundreds of UTube videos about a variety of conditions. She saw one little girl named Ragan who reminded her of Adalyn. Nicole contacted Ragan’s mom Kasi Thursby in Florida and the two compared notes.
Neither mother could figure out what their daughter was suffering from, but believed the two had the same condition. One night on the phone, they pulled out their daughters’ lab reports and realized they were pretty much identical.
In December Nicole learned about Pitt Hopkins Syndrome and each mom went to the geneticist with their daughter. Although their specialists had never heard of the condition both girls ended up being diagnosed after a blood test for the condition. Both girls have a mutation on the TCF4 gene, on chromosome 18.
Because the condition is so rare, Nicole said the Foundation has few people working to fundraise, although it only took a few families to raise thousands of dollars. She said the Foundation has raised about $400,000, a good start to starting on study on the condition. In 10 years it’s likely there will be more treatment options available.
Although there are only 250 cases worldwide, there are likely many other children who have the disorder and have been given the diagnosis of autism.
Despite Adalyn’s strugglers her mother said she’s relieved to finally have some answers. She’s joined an international support group online and have made mew friends with other parents of children with the condition.
This weekend the family will be attending a 5K race in Michigan for another girl with the condition. They hope to start hosting more fundraisers to help the Foundation and to raise awareness about the condition.
Today Adalyn is a happy and smiley girl. She attends the Beloit Early Learning Center. There is a Facebook page on Adalyn if people want to follow her progress and learn more about Pitt Hopkins Syndrome.
Against the odds: Girls in the same class share rare genetic disorder
The News Herald, The Voice of Downriver, Southgate, Michigan
Published: Wednesday, June 19, 2013, by Andrea Blum
Imagine having a child diagnosed with a rare genetic disorder shared by only 250 others worldwide.
Now imagine running across one of those other people in the same class as your child.
That’s what happened to Angie Gielow of Taylor and her daughter, Jessi.
Jessi, 5, was diagnosed with Pitt-Hopkins syndrome in August 2012 after four years of tests.
“They would just test her and say it came back normal — that was the usual response,” Angie said. “They told us that we’d probably never get a diagnosis.”
After undergoing five specific genetic tests, the Pitt-Hopkins diagnosis was made.
Slow development as a baby was one of the first signs that something was wrong with Jessi.
“She was not holding her head up very good,” Gielow said. “She was late sitting up and she wasn’t grabbing or holding onto things, even when we would feed her a bottle — it was all over her and she had low muscle control.”
Pitt-Hopkins syndrome is a neurodevelopmental disorder with just 250 diagnosed cases worldwide. Although the cause is known, there currently are no pharmaceutical treatments available.
People with Pitt-Hopkins are severely mentally retarded, have dysmorphic facial features, decreased muscle tone and are susceptible to seizures and intermittent hyperventilation.
Caused by a mutation within or a complete deletion of the TCF4 gene, Pitt-Hopkins changes the way the brain develops and functions, causing delays in developmental milestones such as rolling over or sitting up.
Nearly everyone affected by Pitt-Hopkins is unable to speak in full sentences, though some may be able to communicate with hand gestures or single words.
When the family received the news in January 2012 that Jessi might have Pitt-Hopkins, Angie went straight to the computer to research the condition.
“As I began researching, I found the pitt hopkins.org website and got excited to read the story of Olivia in Michigan,” Gielow said.
“As I read her story, I couldn’t believe all the facilities and doctors she had seen that Jessi had also. I kept looking at her picture and saying to myself that she looked so familiar. A couple of hours later I realized Jessi and her were in the same class. It was the craziest thing.”
Six-year-old Olivia McCarthy, who also lives in Taylor, was diagnosed in 2007.
“There was nothing online then and her family was one of the first to start the support groups,” Gielow said. “They paved the way for Jessi.”
Olivia’s family has held an annual 5K to raise money for Pitt-Hopkins research for the past three years. Angie decided to get involved and help raise awareness about the disorder at this year’s event.
The fourth annual 5K for Pitt-Hopkins Syndrome takes place at 11 a.m. Saturday at Council Point Park, 3949 River Drive, Lincoln Park. Registration begins at 10 a.m.
Jessi and Olivia, along with two other girls with Pitt-Hopkins — Lilly Sammartano, 4, of Indiana and Adalyn Chadwick, 4, of Wisconsin — will attend.
“We definitely want to increase awareness,” Gielow said. “The more people who know and understand, the more opportunities there will be for treatment or for families to get tested.”
The two girls attend Madison School in Wyandotte, a special education program that serves students with severe multiple impairments and cognitive impairments.“Their classroom is really small and the teacher and two aides are just wonderful,” Gielow said. “I ran into one of her teachers the other day and she said they have Jessi walking in a walker every day to support her and get her to other areas of the classroom.”Students get physical and occupational therapy as well as speech therapy at the school.And speech is an area in which many children with Pitt-Hopkins need the most help.“One of the things that it affects most is speech,” Gielow said. “Jessi and most of the other kids can’t talk, but she will let you know what she wants and she can make a choice if you show her two things.”Jessi uses a wheelchair and walkers to get around and is capable of crawling.
“She’s very happy, always smiling and laughing,” her mother said. “That’s one of the great traits.”
It’s believed that most children with a developmental disorder will never receive a specific diagnosis.
One of the event’s goals is to raise money so that other families can confirm Pitt-Hopkins diagnoses.
“It’s so much easier to deal with when you know what it is,” Gielow said. “We want to try and come up with some sort of treatment to help them become more independent and adapt more.”
While parents of children with Pitt-Hopkins want to teach their children more, the children themselves are teaching bigger life lessons to their families, according to Gielow.“I’ve learned more from Jessi in three years than I would’ve learned in a lifetime without her,” she said. “We can take the opportunity to learn from these kids and adapt it to our own lives on a day-to-day basis.”Food, raffles and entertainment, including clowns and a disc jockey, will be part of the 5K event.Tickets are $25 for adults and $15 for children. Visit walkforaolivia.com to register or to donate.
Citation: Experimental & Molecular Medicine (2013) 45, e21; doi:10.1038/emm.2013.32
Published online 3 May 2013
Pitt–Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription
Open
Department of Neurobiology and Evelyn F. McKnight Brain Institute, Civitan International Research Center, University of Alabama at Birmingham, Birmingham, AL, USA
Correspondence: Professor JD Sweatt, Department of Neurobiology, University of Alabama at Birmingham, 1825 University Boulevard, SHEL 1010, Birmingham, AL 35294-2182, USA.
Received 1 February 2013; Accepted 3 February 2013
Abstract
TCF4 (transcription factor 4; E2-2, ITF2) is a transcription factor that when haplo-insufficient causes Pitt–Hopkins Syndrome (PTHS), an autism-spectrum disorder that is associated with pervasive developmental delay and severe intellectual disability. The TCF4 gene is also a risk factor with highly significant linkage to schizophrenia, presumably via overexpression of the TCF4 gene product in the central nervous system. This review will present an overview of the clinical manifestations of PTHS and relate those clinical attributes to the underlying molecular genetics of TCF4. In order to provide a molecular biological context for the loss of function of TCF4 in PTHS, the review will also present a brief overview of the basic biochemistry of TCF4-mediated regulation of cellular and neuronal gene expression. In the final section of this review, I will discuss and speculate upon possible roles for the TCF4 transcription factor in neuronal function and comment upon how understanding these roles may give new insights into the molecular neurobiology of human cognition.
Keywords:
autism; epigenetics; learning; language cognition; memory; Pitt–Hopkins Syndrome; TCF4.
To read the full text of this article, follow this link:
They said she would never walk or talk… look at her now
by Kelly Williams
MOST children’s first steps are a momentous occasion – but for little Isabella Groves it’s a breakthrough.One of only 200 people in the world to suffer with a rare genetic condition, medics said she may never walk.But every day she continues to push boundaries as she learns to turn the pages of a book, and communicate using a special app.Isabella, who turns three today, doesn’t talk and has the developmental age of a 12-month-old baby.Diagnosed with Pitt Hopkins Syndrome, she needs to be fed and has no physical awareness.But her positive parents, Leanne and Andrew from Denbigh, live by the motto “never say never”, as they immerse their daughter in everyday tasks, taking her swimming and riding to boost her confidence and quality of life.Speaking to the Daily Post last night, Leanne said: “Izzy was born at home three years ago and at first we didn’t notice anything was wrong.“After a while, we found she seemed a bit behind children her age, she wasn’t making much eye contact and was unable to hold herself up properly, as if she had weak muscles.“I had a gut feeling that something wasn’t right and so we took her to the doctors who referred her to a paediatrician.“When they couldn’t work out what was wrong, Izzy was referred to a geneticist and they carried out tests for one of three rare syndromes.”She added: “When it came back that she had Pitt Hopkins Syndrome, it hit us like a ton of bricks.“The paediatrician had never come across it ever before in her career.“We did some research on the internet and found it was a condition characterised by severe intellectual disability and developmental delay.“We were told she would never walk or talk.”
But Izzy, who goes to Castle Day Nursery in Rhuddlan and Ysgol Tir Morfa in Rhyl, has been involved in an intensive physiotherapy programme and has managed to take a few steps unaided.
She doesn’t speak but smiles, laughs and “babbles” words like mama.
Nurse Leanne, who also has a four-year-old son, added: “There are only around five children in the UK with the syndrome and 200 cases worldwide. I got in touch with a research team in Texas – breakthroughs are a long way away but you’ve always got to have hope.
There is no UK charity for Pitt Hopkins but I am trying to change that – there are probably more kids who have it but haven’t been properly diagnosed.”
Leanne admits she doesn’t know what’s around the corner for Izzy. She said: “We’ve been told she could start having seizures between the ages of four and seven and may develop apnea, which means she may stop breathing.
“We are praying it doesn’t come to that and keep trying our best to push through boundaries. Izzy is responding slowly but is making progress.”
The family need to raise £5,000 to start up the charity, so friend Simon Hales, from Prestatyn, is taking part in the 10k Great Manchester Run on May 26 to help their cause. “We’ve been selling Never Say Never wristbands to raise awareness,” added Leanne.
In the UK, Paypal donations via izzyneversaynever@gmail.com To help, call 07771542017.
http://www.dailypost.co.uk/news/health/denbighshire-girl-suffering-rare-condition-3869215
This article was written by the Pauca family, sharing their daughters’ journey of having a sibling with special needs (PTHS). It appears in the Spring 2013 Exceptional Child magazine, (pages 16-17 online) a publication of the Piedmont Parent, North Carolina.
Victor Pauca may age, but in many ways, he may never have to grow up. So his parents needed to find a way to explain Victor’s complicated and very rare genetic disorder to his sisters, at a level that they could understand.
By Theresa Pauca
I am mommy to three super children: Sofia, 13; Francesca, 10; and Victor, 7. What makes them super? Their positive attitudes, infinite compassion and acceptance that everyone is different. All three children have learned from each other, and each has been given unique talents and gifts.
After my husband, Paul, and I were blessed with two precocious and gifted girls, we had begun to feel like we had done everything right. In fact, to a degree, we felt we could do nothing wrong. Our life was so great because we had made it that way — we felt almost invincible; nothing could shatter our world. Well, that nothing turned into something so life-changing that we could have never imagined it. We were blessed a third time with a son with special needs.
When Victor was born, it was not apparent that he had disabilities. But as he turned from an infant to a toddler, it was obvious he was not reaching his developmental milestones. Now remember, we were coming out of our fairy-tale world, where the girls did everything early. At first we thought he was just moving along at his own speed, but then it became clear that Victor’s pace was extremely gradual. The bubble, which we had carefully built around our perfect little lives, was just then bursting.
After a long road involving numerous doctors, at 2 and a half, Victor was diagnosed with a rare genetic disorder called Pitt-Hopkins syndrome (PTHS). There are only about 250 cases diagnosed world-wide. It is also so rare that there were no associations in the world for PTHS. So we started an international support group, and later the Pitt Hopkins Research Foundation (pitthopkins.org), with the help of some other amazing PTHS families.
What is Victor like?
He is one of the happiest people I have ever known. According to the National Library of Medicine at the National Institutes of Health, “Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay which range from moderate to severe, breathing problems, recurrent seizures [epilepsy], and distinctive facial features. … Children with Pitt-Hopkins syndrome typically have a happy, excitable demeanor with frequent smiling, laughter.”
Some of the distinctive facial features are these pronounced Cupid’s bow lips and a wide smile, so children with PTHS are beautiful. Sometimes I like to tell people Victor has “Pitt Handsome syndrome,” just to see their reaction.
What do we tell the girls about their brother?
At the time of Victor’s diagnosis, they were 8 and 5. I am a “glass half full” person and wanted to use a positive message to tell them about Victor, without bringing unnecessary sadness into their young lives.
So I told them that Victor was like Peter Pan. In his mind he would never have to grow up, and we could always enjoy Neverland with him. We could share this special place with Victor forever. We could always enjoy buying him beautiful toys and could play happily with him, forever. I told them he wouldn’t have to do a hard job or even homework.
“Wow,” they said, with smiles on their faces, “Victor’s lucky.”
Is it always easy for our family?
Definitely not! Do we need help from family, friends and our community along the way? Yes! Just this past Christmas, I came to the realization five years after Victor’s diagnosis, that I should stop acting like I could do it all, because I can’t. If someone asks me if they can help, I now say “yes!” Because I know that if they didn’t want to help, they wouldn’t be asking.
What have the super siblings learned?
To be patient, helpful and kind. To accept other people’s differences — all kinds of differences. That we are not perfect and really wouldn’t want to be.
And they can visit Neverland, forever, with Victor.
Theresa Pauca is vice president of the Pitt Hopkins Research Foundation (pitthopkins.org), dedicated to finding a treatment and ultimately a cure for PTHS. She is married to Paul Pauca, who developed the app “Verbal Victor.” Theresa, Paul and their children live in Winston-Salem.
The Quality of Souls
A mother works to find a cure for her son’s syndrome, Spring 2013
by AUDREY DAVIDOW LAPIDUS (COL ’95)
Calvin didn’t roll over. He didn’t crawl. When all the other babies were babbling and taking wobbly steps, he was just lying there, smiling. Always smiling.
I tried to convince myself that he would catch up. And that one day, as he streaked across the Lawn, we would all laugh about how we worried something was wrong when he was just a baby. I tried to convince myself, but deep down I knew; I had this terrifying feeling that it wasn’t going to turn out that way.
That’s about all I remember of my son’s first year. They say that happens with trauma—you block it out. But I’ll never forget the night the doctor called to tell me what was wrong with my baby boy.
He said Calvin had a mutation in the 18th chromosome, an extremely rare genetic syndrome called Pitt Hopkins. Fewer than 200 cases in the world had been diagnosed—and when the doctor took his genetics boards 20 years ago the syndrome had yet to even be discovered. By this point in our conversation, I was already frantically Googling.
The papers online said my son would not talk. They said he may or may not walk. He would likely have seizures as he got older. And he would be severely impaired, both intellectually and physically. He was only 13 months old and already his future felt grim, if not totally lost.
That was exactly a year ago. On that day, in that darkness, I never would have imagined where we would be now. Old friends stood by us. New friends rallied to support us. And so many friends we’d lost touch with, in particular so many U.Va. alumni, came back into our lives. Their phone calls, emails and meal deliveries buoyed us through that difficult time.
This past year has been an education in the things that matter. All the smiling Calvin does is actually part of his syndrome—children with Pitt Hopkins tend to be very cheerful. I have met many special-needs parents whose children do not have the muscle control to smile or whose sensory disorders leave them so uncomfortable in their own skin they can rarely enjoy their surroundings. My heart aches for them. My son can smile. It used to seem like such a little thing.
In the early days after the diagnosis, I tried to take solace in mantras like “everything happens for a reason.” The truth is I don’t believe some divine order led Cal to me, or me to Cal. But I know that I have two choices—hope or despair—and that the latter gets us nowhere.
Of course, not everything is so clear cut. I worry that I will still be changing his diaper when he is 30. How will that work, I wonder? Then there’s the big question, the one I can’t bring myself to utter out loud—will my son have a meaningful life?
I know that Cal has made my life immensely more meaningful. He is a constant reminder to look not at human deficiencies but at the quality of souls. Perhaps it’s just the desperate hope of a mother trying to make sense of it all, but I like to believe that his brain, unclouded by judgment and ego, knows only light and love.
Our son’s diagnosis has given my family a new purpose: to find a cure for Pitt Hopkins. Because Pitt Hopkins is an extremely rare, recently discovered disease, there was no foundation, no research and no hope of clinical trials at the time of Calvin’s diagnosis. My husband and I decided to change that. In the past year, together with a small group of families, we have raised more than $300,000 for Pitt Hopkins research. We recently made our first grant to David Sweatt, an esteemed neurobiologist at the University of Alabama, Birmingham.
A large part of the grant was for Sweatt to hire the best researcher he could find to assist him. After a nationwide search, Sweatt found Andrew Kennedy (Grad ’11), toiling away in the chemistry laboratory of Timothy Macdonald at U.Va. To me, this felt like kismet—a U.Va. scientist will be the one helping to find a cure for my son.
Of course, finding a cure is my wildest hope—one that I have to keep in check at the back of my mind and tucked deep in my heart. My realistic hope is that there will be a treatment within the next decade that won’t necessarily cure Pitt Hopkins kids but will give them much higher functioning, fuller lives.
Still, that is a long time from now. For today, for now, I try to live in the present, to focus on the blessings I have, rather than what I want. It isn’t always easy, but when I forget, I need only look over at my son, beaming his bright, beautiful smile—reminding all of us to do the same.
Audrey Davidow Lapidus lives in Los Angeles with her husband, Eric; and their children, Sadie, 6, and Calvin, 2. She is president of the Pitt Hopkins Research Foundation.
http://uvamagazine.org/first_person/article/the_quality_of_souls#.UTqPRaX_Q22
MD Simulation of TCF4 bound to CREB-binding protein video
by Ryan Godwin, Ph.D. student, Department of Physics, Wake Forest University
Sam Cho, Ph.D, Assistant Professor, WFU
Class name: PHY 320/620: Physics of Biological Macromolecules, Fall Semester 2012
View video here:
TCF4 and CREB-binding Protein MD Simulation from Sam Cho on Vimeo.
Final Project: MD Simulation of TCF4 bound to CREB-binding protein
Project description: Our class performed molecular dynamics (MD) simulations of TCF4 bound to CREB-binding protein on Wake Forest University’s DEAC Supercomputing facilities. Molecular dynamics simulations are like a computational microscope that describes the physical movements of atoms and molecules over a period of time. The forces between each of the atoms and molecules at a given time determine where they will move next by numerically solving Newton’s equations of motion, over and over again until the simulation ends. The result is a series of “snapshots” that can be stitched together into a “movie” like the one seen above.
In previous years, we chose some obscure biomolecular system to perform our simulations. This year, to give the students a more meaningful experience, they performed simulations of TCF4 bound to CREB-binding protein, whose structure was recently solved using a technique called nuclear magnetic resonance by an international team consisting from Queen’s University (Kingston, ON), University of Toronto (Toronto, ON), and Centre National de la Recherche Scientifique (Grenoble, France). This was an ideal biological system to study because it was just the right size for the students to perform scientifically meaningful simulations in a short period of time.
On the last day of class, Theresa and Paúl Pauca shared their story of their son Victor so that the students can know that their simulations had a biological relevance. This talk was designed to encourage socially relevant learning and disability awareness at the University level.
Student comments about the class:
“I especially enjoyed seeing how our project was useful to good people.”
“I enjoyed the simulations and applying what we learned in the semester to understand the real-world applications of the theory.”
David Sweatt, PhD
Evelyn F. McKnight Chair, Dept of Neurobiology; Director, McKnight Brain Institute; University of Alabama at Birmingham
The identification of the dysfunctional TCF4 transcription factor gene as the genetic basis of Pitt-Hopkins Syndrome is a critical step forward in beginning to understand the diagnosis, etiology and molecular biology of PTHS. This project encompasses a set of studies to investigate the cognitive dysfunction associated with PTHS, focusing on mechanistic studies to understand the role of the TCF4 transcription factor in central nervous system function. For this project we are using genetically engineered mice in which the TCF4 gene has been manipulated in order to mimic human PTHS. This particular project is focused on investigating whether there is aberrant regulation of epigenetic molecular mechanisms, and altered transcriptional regulation of genes and small non-coding gene products in the PTHS model mice. For these studies we are particularly interested in learning and memory function as it relates to these molecular biological mechanisms in the CNS. Toward that end we are using next-generation high-throughput DNA sequencing methodologies coupled with epigenomics and bio-informatics approaches.
Stephen J. Haggarty, PhD
Associate Professor of Neurology | Harvard Medical School and Massachusetts General Hospital
The additional funds will be used to further support a post-doctoral research scientist in the Haggarty laboratory who is developing assays with human patient specific, stem-cell derived neuronal to measure TCF4 expression at the mRNA and protein level. Additionally, methods for mapping TCF4 target genes using state-of-the-art techniques for chromatin immunoprecipitation coupled with high-throughput DNA sequencing (ChIP-seq) are being piloted. These studies are anticipated to provide important new insight into how the loss of TCF4 function may lead to changes in pathways important for neuroplasticity.
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