RareiTees for a Cure is a clothing brand with a unique mission to bring awareness to rare diseases, specifically Pitt Hopkins Syndrome. Our inspiration is derived from the founder’s daughter, Alexandra, one of 750+ in the world living with Pitt Hopkins Syndrome. Your purchase helps fund a cure for this rare disease and brings hope to so many. All proceeds benefit the Pitt Hopkins Research Foundation.
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Absolutely in awe of our team and Pitt Power! On May 20, 2018, for the 5th straight year of UPenn’s Million Dollar Bike Ride, they rode their hearts out! WE MADE THE 50k match!!! We did It!!! Pitt Power never ceases to amaze me!!! Less than a month ago we were way behind in our numbers. I figured we’d make it to 20k and we’d be happy with that. But once again, I underestimated the power of a small group of individuals dedicated to making life better for their kids.
We are so grateful to all of you who rode, raised, supported and donated!!! This road, this road to treatments, is long and hard, and filled with blocks and hills and potholes, but today, TODAY the path was made a little smoother, and these successes— they are what keep us going!!! From the bottom of our hearts, THANK YOU!
What an incredibly beautiful moment for the Italian Pitt Hopkins families meeting Pope Francis! Thank you for sharing this Associazione Italiana Sindrome di Pitt Hopkins!
As we reflect upon 2017, our organization has seen fantastic growth and commitment, strengthening both our organization and the entire Pitt Hopkins community.
Our researchers have made amazing strides in their efforts to find a cure for Pitt Hopkins syndrome. We have developed a PHRF Road to Treatment Plan, and are aggressively pursuing treatment approaches in the areas of: Gene Therapy, Ion Channel, NMDA Receptors, M4 Receptor, HDACi, Up-regulating Protein, Metabolic/Mitochondrial Dysfunction, and Symptomatic treatments. Our extraordinary researchers are located in universities and private companies across the US and the world, including University of North Carolina at Chapel Hill, University of Texas Southwestern, Vanderbilt University, Icagen Inc., Jackson Labs, University of California Los Angeles, University of Chile, Healx, Bates College, Drexel University, Johns Hopkins University, and Tallinn University of Technology, Estonia.
This has been our highest fundraising year in our entire existence, raising over $500,000. Since our beginning in 2012, we had never thought we could raise a half a million dollars in one year. But yet our small but mighty foundation did.
An incredibly heartwarming change we have seen has been a shift in the amount of Pitt Hopkins families who are embracing fundraising, many for the first time, and so enthusiastically. It is tremedously motivating and encouraging for our Board of Directors to go from the only fundraisers, with a few exceptions, to having so many families also feel like they want to help by fundraising for a cure, for the sake of their own child. And we are so heartened by this effort from the families. This is building our Pitt Hopkins community like we could have never dreamed.
Looking to 2018
We are ever hopeful for 2018. It holds so much promise. For the future of our kids, so that they may see a day when they can achieve to their incredible potential, and finally have their bodies show us what they what they know—which is a great deal. They deserve this chance. And so we will keep battling on.
We don’t just hope for a miracle, we fight for one.
Craig Thomas and Carter Bays who created How I met Your Mother at the original HIMYM Bar in NYC with the winners of their Charity Buzz Auction, Rafael and Eunice.
Craig and Carter have always been staunch supporters of the Pitt Hopkins Research Foundation!
Please visit additional Charity Buzz Pitt Hopkins Research Foundation Auctions!
Sarah Huffman was a very special and inspiring young lady and will forever hold a treasured place in our hearts. The Pitt Hopkins Research Foundation is dedicated to making a difference in the lives of individuals with Pitt Hopkins. Annah Moore, a Vanderbilt University Graduate Student, is a part of the Sweat lab that was the first lab we ever funded. We are thrilled to announce that we have named a grant to Annah in Sarah’s honor – “The Sarah Huffman Award for Promising Young Researchers.”
Title:
Novel Therapeutics for Pitt Hopkins Syndrome, Annah Moore, Graduate Student, Pharmacology Department Vanderbilt University
Under the Mentorship of:
Dr. David Sweatt, Chairman, Department of Pharmacology and Dr. Colleen Niswender, Research Associate Professor of Pharmacology
Summary
Annah Moore’s project is focused on the discovery of small molecules designed by the Vanderbilt Center for Neuroscience Drug Discovery as potential therapeutics for Pitt Hopkins Syndrome (PTHS). Preliminary experiments have shown cognitive enhancing properties in Pitt Hopkins model mice after treatment with a drug that acts at the M4 muscarinic acetylcholine receptor. Annah will test this compound in additional mouse models for PTHS and will continue to investigate candidate drugs. She has also documented abnormal breathing in a PTHS mouse line, and plans to further characterize this trait. Annah has also recently been accepted into the Vanderbilt Program in Molecular Medicine, which will give her the opportunity to work with a clinical mentor and meet patients with neurodevelopmental disorders.
“I think that right now there seems to be a really big push into research on rare diseases. All the rare diseases are collectively getting together and saying, “Hey, we’re here!” – combined together they make one big common type of genetic disease category. I think this is the day and age of rare diseases.” ~Theresa Pauca
Interview by: Whitney Smith, Director of Business Development, Collaborative Drug Discovery, June 2017:
This interview focuses on Theresa’s involvement with the Foundation and the work that we are doing to support research into Pitt Hopkins syndrome:
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