2015 Accomplishments
2015: A YEAR OF INCREDIBLE GROWTH
FOR THE PITT HOPKINS RESEARCH FOUNDATION!
Thanks to everyone who helped make 2015 our best year yet. Let’s make 2016 even better!
2015 Fundraising totals are in, and they are Bigger Than EVER: $460,000
That’s $60 K more than last year and, this year we didn’t even have those amazing EASTSIDE high school kids (who brought in $130K) helping! So that means, as a group we brought in nearly $200K more than last year. More and more new families joined the effort and with a 75 percent increase in family involvement over last year!
2015 Accomplishments
There is a tremendous amount going on at PHRF; we are now supporting 7 research projects. When we started, just 3 years ago, there was virtually no laboratory research being done on this exceedingly rare disorder. This growth means more scientists are focusing on Pitt Hopkins; more labs are working together and sharing knowledge, ideas, and resources; and we are spurring a range of approaches to developing treatments and a cure for Pitt Hopkins. In short, it means we have more scientific momentum than ever towards what we all want—to change the lives of those who live every moment of every day with the debilitating symptoms of Pitt Hopkins.
Here are a few specifics on progress we have made this year in several key areas:
1. Reversal: Reversal projects target the underlying cause of Pitt Hopkins and have the greatest likelihood of having a profound impact on symptoms. Our lab at the University of Alabama Birmingham (UAB) has found a drug therapy that reverses the symptoms of Pitt Hopkins in mice! There is a similar, less toxic drug, currently being tested in the mice that may be contender for trials in the near future.
2. Treatment: Treatment projects seek to improve the quality of life for those with Pitt Hopkins by addressing one or more symptoms. This year the PHRF supported two studies at top labs (the Powell Lab at University of Texas Southwestern and the Katz Lab at Case Western University) looking at epilepsy and breathing issues. Currently our mouse models are being tested for seizure activity and hyperventilation. Once these studies are done we will know whether or not we have a legitimate target for testing treatment-centered therapeutics in the mice.
The Katz Lab at Case Western also studies breathing issues in Rett Syndrome mice, and they have brought a drug called Ketamine to trial this year in Rett Syndrome. This may be a possible target drug for our children as well. It’s too early for results on these trials, but we will share news as soon as we get them.
3. Clinics: The PHRF launched two dedicated Pitt Hopkins Clinics, one at UCSF in San Francisco and one at UT Southwestern in Dallas. We are also working with the National Institute of Mental Health to launch a Pitt Hopkins study site (Summer, 2016) where children from all over the world will be able to be seen at no cost. We hope to continue building this network of clinics around the world where doctors will share and update each other regularly on the latest and most effective medical practices for our children. These clinics and study sites will also be essential in helping develop a comprehensive natural history of Pitt Hopkins, a must for moving forward with clinical trials.
4. Basic science: To inform all our approaches for treating and hopefully curing Pitt Hopkins Syndrome, we must continue expanding our understanding of the neurobiology behind PTHS and the mutated Tcf4 gene that causes it. Our funded labs are doing exactly this and have made several discoveries, including the finding of dysregulated glutamate receptors. This led us to convince our Dallas clinic to try Amantadine, an already FDA approved NMDA receptor antagonist on some patients, and we are seeing some positive results, including increased focus and reduced hyperactivity.
5. Family Support: We held the first ever Science and Family Conference this September in Washington D.C. Families from all over the world joined together for the first time to hear from our scientists and clinics and to meet other members of our global Pitt Hopkins Family. We had no idea the impact this one weekend would make. We laughed, we cried, we cried some more, and we knew at the end of it all we could not wait TWO more years to see our Pitt Family again. We had originally thought the conference would be biannual. But it was clear, that as a fledgling and growing organization, we needed to do it again, as soon as possible.
MARK YOUR CALENDARS FOR
Nov 5-7, 2016 Dallas, Texas!
6. AAC: We often hear from parents that one of the hardest parts of Pitt Hopkins is the lack of communication, particularly when our kids are suffering. This year we dove into learning more about Augmentative Alternative Communication and held our first AAC conference at the Science and Family Conference. Stay tuned for more of these in 2016.
7. Give Rare champions: We were crowned THE 2015 GIVE RARE CHAMPIONS. We raised $23,000 in ONE DAY and won 15K more in matching grants, beating out organizations far bigger than us!
WHO’S IN FOR GIVE RARE 2016? Email us at:
phrf-fundraising@pitthopkins.org
8. Pinterest: We launched a Pinterest page to share ideas on everything from therapy to gluten free and dairy free desserts to what to buy for Pitt Christmas presents. Join us here.
9. Coriell Cell Bank: We launched the Coriell Cell Bank for Pitt Hopkins skin fibroblasts and plasma so that reseachers all over the world will have easier access to skin and blood cells for research. Email Nahid Turan nturan@coriell.org to start the donating process.
10. Registry: We created the global Pitt Hopkins Registry to gather information and help advance research more efficiently and faster. We have over 200 people registered so far! If you haven’t registered yet, you can do so here.
More families than ever were involved in making this the best year yet at the PHRF! If you are interested in getting involved, contact us at phrf-fundraising@pitthopkins.org.
