FOR IMMEDIATE RELEASE
The Pitt Hopkins Research Foundation celebrates its fourth International Pitt Hopkins Syndrome (PTHS) Day to Raise Awareness and Funding for Pitt Hopkins Research
Los Angeles, California September 6, 2016 –The Pitt Hopkins Research Foundation (PHRF) is proud to announce the celebration of its fourth annual International Day of Recognition for Pitt Hopkins Syndrome, a rare neurodevelopmental disorder caused by a spontaneous mutation on the 18th chromosome.
To bring further awareness to the 18th chromosome, we have chosen the 18th of September as our annual awareness day. Families and friends around the globe will celebrate children affected by Pitt Hopkins Syndrome and begin to expand recognition for the disorder and help raise awareness and funding for research towards a cure.
GOALS FOR AWARENESS DAY
On Sept. 18th, as we celebrate our children and all they have achieved we want to take the opportunity to introduce more people to the beauty and trials of living with Pitt Hopkins.
- We want to promote our reasons for research, our belief and dedication to finding a cure (see below) and encourage people to donate to our foundation.
- We want medical professionals, in particular pediatricians, to learn more about the symptoms and features (see below) so that they can refer their patients for genetic testing in a timely manner.
- We want families with undiagnosed, developmentally delayed children to perhaps see in the faces of our children, something familiar. We want them to know there is new testing available–Whole Exome Sequencing –that just might be able to help them find the answers they’ve been searching for.
- We want other professionals that work with children and their families with special needs, eg kindergarten teachers, special needs teachers, OTs , physiotherapists to know the symptoms and features.
- We want any families who have been diagnosed to find our support group at www.pitthopkins.org and join us!
WHAT IS PITT HOPKINS SYNDROME?
Pitt Hopkins is a severe neurological disorder caused by loss of function of the TCF4 transcription factor located on chromosome 18. PTHS is characterized by developmental delays, breathing problems of episodic hyperventilation and/or breath-holding while awake (55%-60%), recurrent seizures/epilepsy (40%-50%), gastrointestinal issues, and distinctive facial features. Most do not develop speech. Not all of these symptoms need to be present to warrant genetic testing.
PTHS was first described by D. Pitt and I. Hopkins in the Australian Pediatric Journal in 1978. The connection to TCF4 was not established until 2007 when it was found to play an essential role in the development of the nervous system and the brain. Any functional deficiency of TCF4 greatly affects how a child develops over time.
Currently about 650 people have been diagnosed with Pitt Hopkins. However, given the recent discovery of the gene in 2007, there are likely many more out there who remain undiagnosed. Overall prevalence of PTHS is unknown. However, one laboratory estimated that the frequency of chromosome 18q21 deletions associated with PTHS is between 1 in 34,000 and 1 in 41,000. An estimate from another researcher is 1 in 200,000-300,000. Researchers will need to recognize individuals with PTHS in all age groups first and molecular analyses should be more widely available too, before this estimate is more accurate. PTHS occurs in both males and females and is not limited to a specific ethnic background.
WHY WE BELIEVE IN A CURE
In the past, genetic syndromes like Pitt Hopkins and Down Syndrome, for instance, were thought to be incurable. But that tide is turning. In 2010, Tom Insel, Director of the National Institute for Mental Health said, “Just three years ago, I would have said that [intellectual disability] is a disability needing rehab, not a disorder needing medication. But it’s all changing.”
Right now, there are clinical trials for similar neurodevelopmental disorders like Rett Syndrome and Angelman Syndrome using compounds that have reversed the syndromes in mice. This has just happened in the last five years, and gives us a great deal of hope that a reversal, or at least amelioration of Pitt Hopkins symptoms, could be possible in humans, too.
We started The Pitt Hopkins Research Foundation with the singular goal of reversing Pitt Hopkins in people. In the last four years we have funded nearly $2,000,000 in research grants. Scientists at University of Alabama and University of North Carolina have created Pitt Hopkins Mouse models and neuronal stems cells and are testing them to see what drugs may help ameliorate symptoms. And this year, scientists discovered not one, but two therapeutics that have reversed the symptoms of Pitt Hopkins in the mice. We hope to bring these drugs to trial in 2017.
Although there are only 650 diagnosed, this research has far reaching effects into the science of memory and learning. Because we already KNOW the gene that causes PTHS- TCF4, we are in an important place to fund meaningful research, research that could possibly give insight to other learning, memory and motor disorders with no known cause like Alzheimers, Autism, Epilepsy and Parkinsons.
ABOUT THE PITT HOPKINS RESEARCH FOUNDATION
The Pitt Hopkins Research Foundation is an all-volunteer organization of families and professionals dedicated to finding a cure for Pitt Hopkins through the funding of an aggressive research agenda, education, and advocacy. Our goal is to bring practical treatment into current medical practice as quickly as possible. In just four years the PHRF will have raised and distributed nearly $2,000,000 in grants and fellowships.