Interviewer: Audrey Davidow Lapidus, PHRF President, and mom to Calvin

Those of you who are new to Pitt Hopkins and the Pitt Hopkins Research Foundation might not be aware of the work accomplished by Dr. David Sweatt at the University of Alabama, Birmingham. Dr. Sweatt was our first funded researcher and the first laboratory researcher in the United States to begin studying Pitt Hopkins just three years ago.

When my son Calvin was diagnosed (at the age of one) in March of 2012, I was beside myself with grief and an overwhelming urge to do something. So I started researching furiously on the internet. I was dismayed to find no one was researching Pitt Hopkins. However, I found that researchers working in similar syndromes, like Angelman and Rett, had found a way to reverse the symptoms of these disorders in mice. I read an article about a particular Angelman’s researcher who had been able to reverse symptoms and was about to launch a clinical trial! In that article, he gave a great deal of credit to his mentor and teacher Dr. David Sweatt. So I thought that’s who we need researching PTHS, we need that guy’s teacher!

Out of blue I wrote to Dr. Sweatt. It’s probably a good thing I didn’t know then what a scientific big wig he was, otherwise I would have never had the guts. I wasn’t really expecting him to respond to my desperate email. But he did. Within 12 hours he responded and said he would help us in any way he could.

With Dr. Sweatt on board, we started fundraising and two months later we awarded his lab our very first grant. Part of the money was meant for him to hire a team of top notch post docs to dedicate their research and career to PTHS. He found that in Dr. Andrew Kennedy, Dr. Cristin Gavin and Dr. Elizabeth Rahn.  They will always hold a special place in my heart as our first funded researchers.

So now that you have a little history, I wanted to share with you all what they have been up to lately.

Q. What first interested you about researching Pitt Hopkins?

Dr. Sweatt: From a neuroscientist’s perspective it is a fascinating disorder to try to understand in terms of underlying genetics. It was right down my alley in terms of the kind of work that we have ongoing in my lab. When I started reading the literature and educating myself about the disorder I became more interested in it as a neuroscientist but also committed to the idea that somebody needed to do something about this disorder and try to begin to develop some avenues for potential treatments for this very debilitating disease.

Dr. Kennedy: Generally, in neuroscience, what you’re studying is a very complicated disease or disorder, like Alzheimer’s for instance, where you have hundreds, if not thousands, of genes playing a part. When considering epigenetics as a potential mechanism to treat deficits with learning and memory, it’s ideal to target a syndrome that’s caused by a single gene, because then you can really understand the system. Pitt Hopkins is extremely interesting because we can take what we’ve known about epigenetics and epigenetic therapies and have a compact model, a test case, where we can understand the genetics, the biochemistry.

Q. So, today, three years later, what is it about Pitt Hopkins that keeps you motivated and interested to continue the research?

Dr. Sweatt: The thing that gets me most motivated is the data Andrew has generated. Andrew has made a lot of exciting discoveries in terms of the underlying mechanisms in the brain that contribute to both the social interaction differences and the learning disabilities that are associated with syndrome. The most exciting work recently is the discovery that certain kinds of epigenetically targeted drugs are improving some of the learning and memory difficulties in the PTHS mouse model, and of course that gives us some hope that this type of therapeutic avenue might someday hopefully be beneficial for Pitt Hopkins kids.

The other thing that’s really exciting is the way that the neuroscience community has really engaged in the problem of trying to understand Pitt Hopkins syndrome, that there’s a vigorous group of scientists now in almost 10 different labs that are really interested in Pitt Hopkins and trying to understand it and develop new therapies when just three years ago really no neuroscientist, me included, had ever even heard of Pitt Hopkins syndrome.

Q. Can you explain what epigenetic mechanisms are?

Dr. Kennedy: When we say epigenetics, we’re referring to how the genes which are written for you at birth are packaged and how they’re accessed by the rest of the organism. Epigenetics can alter whether or not this gene is easy to read or difficult to read, even how it’s read; whether it’s read completely or partially. That can have profound effects in how that gene functions in the cell. In a case like Pitt Hopkins syndrome where you have one viable copy of TCF4 and one non-functioning copy, epigenetic therapies are particularly interesting, because if you could use a therapy to make TCF4 easier to read, you could possibly read the good copy twice as much.
 Essentially you would be reconstituting the level of TCF4 needed in an adult functioning central nervous system.

Dr. Sweatt: One of the things that we have discovered in the lab is that these epigenetic mechanisms that control the three-dimensional structure of genes are involved in normal learning and memory processes, and it turns out that some of those same mechanisms are disrupted in the mouse model of Pitt Hopkins. So we have now an understanding of at least part of the mechanisms for the learning disabilities associated with Pitt Hopkins syndrome. Of course, the hope is that our understanding of that mechanism will allow us new types of ways to think about drug therapies that might be beneficial, that is, drugs that target those particular epigenetic mechanisms.

Q. The Pitt Hopkins Research Foundation first funded your lab in the spring of 2012. Can you tell us a little bit about what that funding has allowed you to accomplish?

Dr. Sweatt: 
 In the broadest sense, it allowed us to even get going at all, because there’s a catch 22 in terms of generating research dollars from any of the government granting sources. You have to have some evidence that your ideas will work before you can even apply for funding from the government to do biomedical research. If you don’t have any seed money, you can’t even get the ball rolling.
 The Pitt Hopkins Foundation and the private family’s donations to the lab in the very earliest stages allowed us to get that core of very early data that proved that Pitt Hopkins was something you could even reasonably work on in terms of laboratory biomedical experimentation.

Dr. Kennedy: Three years ago when I came to Dave’s lab, the first thing we did with the seed money was acquire these mice, which miraculously had already been produced for a non Pitt Hopkins purpose. TCF4, as a gene, was studied in immunology for several years and someone had generated a mouse model and never characterized it for any of the phenotypes seen in Pitt Hopkins syndrome. So three years ago, we were a little bit anxious because we didn’t know if the mice would even model the syndrome. It turns out that they do – quite incredibly. They mimic the cognitive deficits, they also have motor deficits, they even share the constipation of Pitt Hopkins patients. These mice have lower velocities for excreting dyes, which is the specific experiment we ran to show that they have slower velocity GI tracts. It’s been pretty incredible that the mice model the syndrome so closely.

Q. Do the mice show breathing and seizure behaviors?

Dr. Sweatt: That is something we are working on right now with collaborators. We want to look at spontaneous seizures and use EEG’s to see where the seizures are coming from if they were occurring. Qualitatively, though, we can see that the Pitt Hopkins mice have seemingly more seizures than the wild type animals, but we haven’t done a thorough study on that yet.

Q. So you get the mice and you study them and indeed they do seem to mimic Pitt Hopkins as we know it in the human condition. Then what do you do?

Dr. Kennedy: After about 6 months, when we felt the mouse model was accurately modeling the human condition, we could do two very important things. First, we now have a system by which we can test therapeutics. We have a measure with a baseline, and we know what wild type animals do, what Pitt Hopkins animals do, and the gap we need to bridge with some kind of therapy. Also, coupled with that, as far as picking therapies, we can use the animals as subjects to understand the biochemistry of Pitt Hopkins syndrome. Yes, Pitt Hopkins Syndrome is caused by having one copy of TCF4 that’s been mutated or deleted. However, that’s not saying a lot about how to treat the syndrome. If you’re trying to find a drug that can go in and improve the cognition of people with Pitt Hopkins syndrome, you have to understand what the consequences of having one copy of TCF4 mutated or deleted means. 
 Because the mice model the cognitive deficits in the other aspects of Pitt Hopkins syndrome, any information we can learn about their biochemistry should transfer to the human condition as well.

Q. Is there anything about their biochemistry that you’ve learned that you can share at this point?

Dr. Kennedy: Sure. It’s going to be a little technical, but as simply as possible, we noticed disregulation in the expression of types of glutamate receptors. Glutamate receptors are truly important in many aspects of the brain, but especially in memory and learning.

One of the other things that we found, and we have more evidence for this one, to be disregulated biochemically was DNA methylation, which is an extremely important epigenetic mechanism in governing formation and consolidation of long-term memories.

Q. So we can test drugs that may ameliorate these things?

Dr. Sweatt: A blessing and a curse of using a genetically engineered mouse model for disease is that you can test out drugs that are available that you can use in the lab, but that have not been approved for use in humans. The advantage is you can try out different kinds of drugs that aren’t really safe for use in humans to see whether those types of drugs might be doing something beneficial in the Pitt Hopkins mice. That’s where we are with these studies. We have access to chemical compounds that are pre-drugs, that haven’t been approved for use in humans by the FDA that we can test out in animals and we have some encouraging results. The down side of that, the curse so to speak, is that then we don’t have some of these drugs or anything that we can take into a human being right away. It just gives us categories of drugs that look promising that we can use to guide future efforts to begin, for example, to screen drugs that might be more likely to be approved for use in humans. That’s where we are with the drug studies at this point.

Q. So it’s more like, “Okay, well we know that this drug worked, but it’s not really ready for human consumption, but let’s look at this other drug that may be FDA approved but sort of similar?”

Dr. Kennedy: Exactly. It takes so long to test a molecule in a mouse versus a cell line or even in fish, so you want to make educated guesses where you’re going next rather than blindly screening.

Q. Last summer the National Institutes of Mental health awarded you a large grant to study Pitt Hopkins. What will you do with that money?

Dr. Sweatt: It makes a huge difference to have that level of funding so that we can pursue more of the ideas, especially trying out different kinds of potential therapeutic approaches and doing a deeper dive in terms of trying to understand how these epigenetic mechanisms are involved. There’s that practical side to it, but the other thing that’s really important is that it really gives a national level stamp of approval to this type of Pitt Hopkins research.

Q. Is it fairly unusual for a disorder as rare as Pitt Hopkins to get that kind of funding from the NIH?

Dr. Sweatt: It certainly makes it more difficult, because one of the criteria that grant reviewers use in deciding whether to fund or not is, “is this going to affect a lot of people who have a disease or is it only going to affect a few?” It’s an investment of taxpayer dollars and like any investor, they want to maximize their investment. In the case of the Pitt Hopkins grant that we got, we were able to articulate to the reviewers that yes, we’re studying an orphan disease, but anything that we learn about Pitt Hopkins with the intellectual disabilities and the social interaction differences might be directly relevant to a wide variety of different types of developmental disorders, like Autism. Anybody who gets a toehold on understanding learning disabilities is potentially going to be able to leverage up a lot of understanding for other more prevalent diseases as well.

Q. Where does Pitt Hopkins Research stand in comparison to other similar disorders at this point?

Dr. Sweatt: Part of the reason why Audrey contacted me to begin with was because I had a history of working on Angelman’s syndrome which is clinically very similar to Pitt Hopkins. I would say that the Pitt Hopkins research community that exists now has made tremendously rapid progress in advancing our understanding of Pitt Hopkins syndrome. I would say that even though other related syndromes, like Angelman and Rett had a huge head start on us in terms of the amount of time that people have been working on those syndromes, that we’ve played a great game of catch up that is really quite astounding to me, having worked in these areas for almost 25 years. 
.

Q. Do you believe the improvements you’re seeing in the mice could help adults with PTHS as well?

Dr. Kennedy: We test in young adult to adult mice and we’re seeing these improvements. So, theoretically speaking, yes we would expect these therapeutics to bring improvement to adults too.

Q. What’s next for your research?

Dr. Kennedy: We want to further understand how these classes of epigenetic drugs are correcting or affecting the disregulated biochemical mechanisms that we’ve observed in the mice, and then how more specific targeted small molecule drugs that are FDA-approved might function in the same way.

Dr. Sweat: One of our immediate goals is to evaluate other additional new types of therapeutic approaches, different types of compounds that would be more readily applicable for humans. I think that’s a real high priority for us right now and obviously it’s going to be for the families as well.

First ever Give RARE a huge success!

Through the persistence and hard work of our entire Pitt Hopkins community, the families of Pitt Hopkins raised over $38K for the Pitt Hopkins Research Foundation through Give Rare Day on March 3rd! The rare disease community came together for 24 hours of generosity. Thousands of people across the world donated to their favorite rare disease nonprofits from 12:00am to 11:59pm, raising over $250K for 75 different rare diseases and a whole lot of awareness! In addition, the rare disease non-profits competed for cash prizes from our sponsors. It was an incredible day and a huge success for our PTHS community!

List of prizes awarded to the Pitt Hopkins Research Foundation on March 3rd:

  • Large Group Winner – $10,000
  • Rare Champ Winner – $4,000
  • 2nd Place for most Rare Champions – $1,000
  • Golden ticket Winner – $200
  • Sleep Walker Winner (Most donations between 2am-6am) – $250
  • Most Patriotic Rare-Disease (We had donors from 40 states!) – $250

THANK YOU TO ALL WHO FUNDRAISED, DONATED, HELPED SPREAD THE WORD… TOGETHER WE ARE STRONG!

 

By: Brian and Michele Schilling

What happens when you or someone you love is diagnosed with a rare genetic syndrome? What if there was so little information about this rare syndrome that not even the doctor delivering the diagnosis knows what it is or what the future holds? What if this was your child? And most importantly, what if you could make a difference?

When our daughter was first diagnosed with Pitt Hopkins Syndrome (PTHS), we did not know where to turn or where to look for help. We had so many questions and wanted answers as quick as we could find them. But there were no immediate answers and no real information to help us. We were stuck searching for answers and more specifically what the future meant for our then four month old daughter, Ella. Pitt Hopkins Syndrome (PTHS) was so rare that there really was no information about developmental treatments, medical treatments, or studies on what could improve the quality of life.   So if the opportunity arose to help in some way, would we jump on it? The answer is absolutely. When there was no government funding, we realized we had to this with the help of others, other PTHS families. We needed to be the ones to raise awareness so that others in the medical community and in our own towns, neighborhoods, and local medical establishments knew what Pitt Hopkins was.

In 2012 we hosted our first fundraiser, Ella’s Bounce Extravaganza in place of Ella’s 2nd birthday party. At this event, our family’s goal was to raise money for research. The current research was limited and we knew that our family had to focus on helping to support any opportunities for research. What if there was some sort of medication or therapy out there that could help our daughter?

When the research began, the opportunities we were looking for started to open and we don’t want that door to close. Research is moving forward each and every year and we are closer to finding answers than we were yesterday. We will do everything in our power to keep that momentum going forward. Fundraising is an easy decision for our family with so many benefits:

  • Raises awareness of PTHS in both your social community and the medical world.
  • Opens the door of communication in your community about your child.
  • Gives people the opportunity to help you.
  • Give YOU the feeling that YOU are first hand doing something to help your child.

That is why we fundraise each and every year. Our community has been so supportive of our events and has also joined us in our journey to fund PTHS research.   We will not stop and we can only get closer to finding answers.

 

“400 in the world… and I have TWO. That is why I fundraise.”

–by: Tiffany Patten

For years I knew something was “wrong” with my twins, Seth and Carter, but no doctor could tell me what it was. I was determined to find an answer. What mother could be satisfied with a label of “undiagnosed”? I certainly wasn’t. I knew I couldn’t possibly be alone in my struggle.

The answer of Pitt Hopkins Syndrome finally came a month before the boys turned 4, but I was faced with even more questions. What is Pitt Hopkins Syndrome anyways- nobody I had ever met had even heard of it?! What does their future hold? Will they walk? Will they talk? Will they be what our culture deems “productive members of society”?

Three years ago there were only 200 known cases, and today there are still only about 400 diagnosed cases in the world. 400 in the world… and I have TWO. That is why I fundraise. To advocate for my children. To raise awareness. To find answers. To find a cure. If I don’t speak up for Seth and Carter, who will?

To know the boys- or any child with Pitt Hopkins is to know LOVE. Pure, simple, and unconditional love. These kids are HAPPY. Happiness is defined as “a mental or emotional state of well being characterized by positive or pleasant emotions ranging from contentment to intense joy”. I can think of no other word to better describe my children. They are simply happy.

They have changed who I am for the better and truly enrich the lives of all those who they come in contact with. The joy they find in the little things reminds me to look for the beauty in the world around me. They have taught me patience and humility. They have helped me find inner peace. They remind me to laugh.

They are love embodied in smiley faced little boys. And while most of our days are filled with giggles and squeals of delight, not every day is. Some days they cry and I don’t know why. Some days I see them watch other kids run and play and it breaks my heart that they can’t join in the fun. Some days they look into my eyes and try so hard to tell me what is on their mind, but they can’t form the words. Some days nothing makes them happy….and there is nothing I can do.

That is one of the worst feelings a mother can ever experience- not being able to “fix” your child. So, I fundraise in the hopes of making the future better for Seth and Carter and all the other kids with Pitt Hopkins Syndrome.

–Tiffany Patten, mom to Seth and Carter

Author Cindy DeLuca surprised the Maginn Family when she told them her new book, The Amazing, Awesome Alphabet, would be dedicated to their daughter, Rylie. Cindy is a retired special education teacher and was a coworker of Rylie’s mom. “She could have dedicated her book to anyone but she said Rylie with her beautiful smile came to her in a dream one night”, comments Heather Maginn. Rylie is a 5 year old sweetheart with Pitt Hopkins Syndrome. Cindy is generously donating one dollar from each book sold to the Pitt Hopkins Research Foundation. On February 7th, Cindy and illustrator, Brenda Messinger-Voll, had their first book signing for The Amazing, Awesome Alphabet at Mycalyn Florals in Nazareth, PA. Cindy invited Rylie to be there to stamp the books with a purple butterfly stamp. “It was an amazing experience. People were able to meet Rylie and learn something about Pitt Hopkins Syndrome. We can’t thank Cindy enough for her generosity!”

The Amazing, Awesome Alphabet is available for purchase from both Barnes & Noble and Amazon. Use one of the links below to purchase your books. Don’t forget…$1 of each book sold goes directly to fund important research for kids with PTHS so buy a book for your children, grandchildren, nieces, nephews, therapists, teachers, and more! Happy Reading!

http://m.barnesandnoble.com/w/the-amazing-awesome-alphabet-cynthia-deluca/1120674988?ean=9781496948748

http://www.amazon.com/gp/aw/d/1496948742/ref=mp_s_a_1_1?qid=1423349306&sr=8-1&keywords=the+amazing+awesome+alphabet&dpPl=1&dpID=51PpAEl29NL&ref=plSrch&pi=AC_SY200_QL40

 

 

 

Dear Pitt Hopkins Family,

It’s New Year’s, the time of year when many of us reflect in the hopes of making this year better than the last. And for special needs parents, it’s filled with questions. Will this be the year? The year that my child takes his first steps? Speaks his first words? Will this be the year that scientists finally come up with a treatment that can really help make my child’s life better?

We all work so hard at the first few questions. We drive to and from countless therapies. Spend sleepless nights on the internet researching. Why? Because those first steps, they feel inevitable. Every day they feel like they’re coming. So we don’t just wait and hope, we work for them. We hold our children’s hands and we promise not to let them go, not to let them down.

The last question, however, the one about treatments, sometimes that’s harder to work at. It can seem so intangible.  So challenging. And it is. I can’t promise you that there will be treatments in 5 years or 10 or even 20. But I can promise you this: we are closer today than we were two years ago.

We now have researchers all over the country dedicated to eliminating the challenges of Pitt Hopkins through science.  And I will tell you – they all work so hard because they believe it’s possible too.  Just as sure as I am about my son, Calvin’s first steps.  It may take a while.  And there may be fits and starts.  But treatments are a real possibility — treatments that could not just help our children walk, but to run, to soar.  Of course there are no guarantees, except for this one– if we don’t continue to push on, to raise money to fund scientific research, I can promise it will never happen.

So how about this year we make another New Year’s resolution? And believe me, this is a lot easier than the crazy therapy schedules we all juggle. Let’s just reach out to the people around us – the people, whether you know it or not, who are so desperate to support you every day. See, if there is one thing I learned from the phenomenon of the ALS Ice Bucket Challenge, it’s that people want a chance to connect, to help.

Forget the gimmick, at its heart the Ice Bucket Challenge was simply friends asking friends for their help. I know I’m making it sound easier than it is. Asking people for money, even for a compelling and promising cause like ours, is hard. But what I find time after time is that the results are surprising and rewarding—not just the fact that people give, but that they give so happily and that they are so pleased to be making a difference. Trust me, you will never feel so loved.  Or so hopeful.  The two things special needs parents need – and deserve—more than anything.

I know what you’re probably thinking—well that’s nice; but how do I ask? What do I say? Do I do it in person? In a letter? An email? The truth is there’s no one-size-fits-all answer. My advice is to tell your story about why this cause matters so much to you. There’s no right or wrong way to do it. Keep it simple, be honest, and do it from the heart.

So this year, if you’re not already involved with events or our annual email campaign, try it. Try something. Anything. Start with just a few people and see what kind of response you get. I think you’ll be pleasantly surprised. I am here to help. Please do not hesitate to call or email me any time. (323-547-3628, Ericlapidus@hotmail.com)

Eric Lapidus 

The Pitt Hopkins Research Foundation is committed to directly funding the most promising research available in the world to help find a treatment and ultimately a cure for Pitt Hopkins syndrome.

Fall 2014:  The PHRF awarded four research grants and two additional research grants through UPenn Million Dollar Bike Ride.  A total of $430,000 awarded for Pitt Hopkins research this year.

 

PHRF Awards:

Dr. Andrew Kennedy, University of Alabama Birmingham

$80,000; one year grant: Investigating therapies for Pitt Hopkins syndrome

Dr. Stephen J. Haggarty, Harvard Medical School, Massachusetts General Hospital

$80,000; one year grant: Characterization of Pitt Hopkins Syndrome stem cell models & therapeutic screening (stem cells created from skin-derived fibroblasts of patients with Pitt Hopkins syndrome)

Dr. Hazel L. Sive, Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology

$80,000; one year grant: Characterization and therapeutic screening of Pitt-Hopkins Syndrome using the Zebrafish

Dr. Brady Maher, Lieber Institute for Brain Development, Johns Hopkins School of Medicine

$80,000; one year grant: Exploring changes in neuronal translatomes in both cell- and non-cell autonomous animal models of Pitt Hopkins Syndrome

UPenn Million Dollar Bike Ride awards:

Dr. Courtney Thaxton, and Dr. Benjamin D. Philpot, University of North Carolina at Chapel Hill

$55,000; one year grant: Identification of genetic and molecular targets for Pitt-Hopkins Therapeutics

Dr. Daniel Marenda, Drexel University, and Dr. Wenhui Hu, Temple University School of Medicine

$55,000; one year grant: Understanding TCF4 function in post-mitotic neuron synaptic plasticity

READ MORE ABOUT CURRENT AND PAST SPONSORED RESEARCH

The first ever Pitt Hopkins Research Symposium was held September 19, 2014 at the Whitehead Institute for Biomedical Research at MIT.

The event was attended by 60 researchers and parents alike, each side gaining a new perspective on this syndrome that plays such a critical role in many of our lives. In just two years, researchers from all over of the United States and the world have made incredible strides in the field, and have fostered much hope for new discoveries to come. Seventeen researchers presented talks detailing remarkable projects, ranging from studying patient-derived stem cell models of TCF4 haploinsufficiency to behavioral tests on TCF4 (+/-) mouse models.

Symposium Agenda

Welcome
Audrey Davidow Lapidus
President, Pitt Hopkins Research Foundation Board of Directors
 
Opening Remarks
J. David Sweatt, Ph.D, Professor
Evelyn F. McNight Endowed Chair
Director, Evelyn F. McKnight Brain Institute
University of Alabama at Birmingham
 
Session I: Neurobiology of TCF4, Co-Chairs:  Diane Krell and Cristin Gavin, PhD (Sweatt Lab)
 
The Neurobiology of Pitt-Hopkins Syndrome
J. David Sweatt, Ph.D, Professor
Evelyn F. McKnight Endowed Chair
Director, Evelyn F. McKnight Brain Institute
University of Alabama at Birmingham
 
The Tcf4 (+/-) Mouse as a Platform for Therapeutic Development to Treat Pitt-Hopkins Syndrome
Andrew Kennedy, Ph.D. (Sweatt Lab)
Department of Neuroscience and Evelyn F. McKnight Brain Institute
University of Alabama Birmingham
 
Small Molecule-mediated Modulation of Wnt Signaling and Histone Deacetylase Activity Affects Expression of Specific TCF4 Isoforms in Human Neuronal Progenitor Cells
Krista Hennig, Ph.D. (Haggarty Lab)
Massachusetts General Hospital, Harvard Medical School
 
Session II:  Molecular Studies of TCF4, Co-Chairs: Becky Burdine and Brad Carter, Ph.D. (Sive Lab)
 
Identification of genetic and molecular targets for Pitt-Hopkins Therapeutics
Courtney Thaxton, Ph.D. (Philpot Lab)
UNC Neuroscience Center, UNC School of Medicine
 
Signaling Pathways and Compounds Regulating Transcriptional Activity and Phosphorylation of TCF4 Protein in Neurons
Tonis Timmusk, Ph.D.
Department of Gene Technology
Tallinn University of Technology
 
Transcription factor 4 (TCF4) Isoforms Regulate the Expression of Different Genes in Neuroblastoma cells
Derek J. Blake, Ph.D., Professor
Institute of Psychological Medicine and Clinical Neurosciences
MRC Centre for Neuropsychiatric Genetics and Genomics
Cardiff University, School of Medicine
 
Gene Awakenings for the Treatment of Neurodevelopmental Disorders
Ben Philpot, Ph.D., Assistant Professor
UNC Neuroscience Center
UNC School of Medicine
 
Session III: Model Systems, Co-Chairs: Nicole Lenzen and Krista Hennig, Ph.D. (Haggarty Lab)
 
TCF4 Dosage is Critical to Proper Form and Function of the Developing Prefrontal Cortex
Brady J. Maher, Ph.D., Assistant Professor
Department of Psychiatry
Lieber Institute for Brain Development
Johns Hopkins
 
Developing Tools for the Identification of the Target Genes of TCF4
Silvia De Rubeis, Ph.D. (Buxbaum Lab)
Department of Psychiatry
Mount Sinai Icahn School of Medicine
 
Characterization and Therapeutic Screening of Pitt-Hopkins Syndrome using the Zebrafish
Hazel Sive, Ph.D., Professor
Whitehead Institute for Biomedical Research
MIT Department of Biology
 
Neuromuscular, Motor, and Pain Phenotypes in a Mouse Model of Pitt-Hopkins Syndrome
Elizabeth Rahn, Ph.D. (Sweatt Lab)
Department of Neuroscience and Evelyn F. McKnight Brain Institute
University of Alabama at Birmingham
 
Session IV: Clinical and Translational Studies, Co-Chairs: Sue Routledge and Stephanie Page, Ph.D. (Maher Lab)
 
Modeling the Pathophysiology & Treatment of Pitt-Hopkins Syndrome Using Patient-Derived Stem Cell Models
Stephen J. Haggarty, Ph.D.
Massachusetts General Hospital,
Harvard Medical School
 
Pitt-Hopkins Syndrome: Delineation of the Phenotype and Natural History using and Online Questionnaire
Melanie Baas, MSc
Department of Paediatrics and Translational Genetics, AMC
University of Amsterdam, the Netherlands
 
Infrastructure for the Clinical Assessment of Individuals with TCF4 Mutations or Deletions: The Chromosome 18 Clinical Research Center
Janine Cody, PhD
Professor, Department of Pediatrics
Director, Chromosome 18 Clinical Research Center UT Health Science Center
 
Clinical Characteristics of Individuals of TCF4 Mutations or Deletions
Daniel E. Hale, MD
Professor, Department of Pediatrics
Chief, Division of Endocrinology and Metabolism
Medical Director, Chromosome 18 Clinical Research Center
 
The X-linked Intellectual Disability Protein PHF6 Regulates Neuronal Migration in the Mammalian Brain
Chi Zhang, Ph.D. (Church Lab)
Harvard University
 
Closing Remarks
Studying Differences in the Lamination of the Cortex by Staining Cortical Brain Slices of TCF4 (+/-) Mouse Models, and a sincere thank you to all PTHS Researchers who have devoted their time to our cause
Sofia Pauca, sibling of a child with Pitt Hopkins Syndrome
 
 
 

 

The 1st annual Texas Trekkers event was a huge success! We had all five kids from the state of Texas at the event, one driving all the way from Houston.  The five Pitt Kids in attendance were Ashton, Erinn, Lizzie, Matthew, and Sam.

With approximately 150 participants at the event, we had a wonderful turnout. We raised $4,458 dollars thanks to the generous donations of our community!

 

 

Ella’s 3rd Annual Bounce Extravaganza was held on Sunday, September 28th in Rochester, NY. The day was filled with lots of fun things for the kids of all ages to do: zoo animals, crafts, music, dancing, karate, fencing, inflatables, and TONS of sports.

There were two Pitt Hopkins “super E’s” present at Ella’s Event. Our family was so excited to be joined by Eleanor and her family from Syracuse. Raising awareness of PTHS was one of our family’s top priorities. With approximately 500 people present at the event we feel we accomplished that goal.

Our community surrounded us with love and support in so many ways at the event. With their help we are blessed to say that we raised $11,050 for the Pitt Hopkins Research Foundation.

It is a day that we will never forget.