Claudette Mirigliani

We are so excited to be participating in the 2024 Million Dollar Bike Ride! This will be our 11th year participating. We hope you will join us for this special day, where families come together (in person and virtually) from around the world for one goal - to raise money to help our kids.

The Penn Medicine Orphan Disease Center hosts this event to raise money for research in rare diseases such as Pitt Hopkins, and they will MATCH EVERY DOLLAR DONATED!! (up to $30,000). Please consider donating to our cause and being a part of transformative research. 100% of your donation, less platform fees, will go towards rare disease research.

Anthony is 19 years old and lives with Pitt Hopkins Syndrome. Every year he looks forward to spending time with his Pitt Hopkins friends while watching the bike riders take off. We are very fortunate to have this event in our area.

What is Pitt Hopkins Syndrome?

Pitt Hopkins Syndrome is a rare, neuro-developmental disorder caused by a mutation of the TCF4 gene on the 18th chromosome. It is characterized by developmental delays, problems with motor coordination (ataxia) and balance, breathing abnormalities, seizures, gastrointestinal issues, lack of speech, and distinctive facial features. Pitt Hopkins affects all races and both genders equally.

Since the gene that causes Pitt Hopkins was only found in 2007, currently there are less than 2,000 people in the world diagnosed with this syndrome, however we believe there are many more undiagnosed. Because loss of TCF4 prevents neurons from functioning currently, our scientists believe that studying Pitt Hopkins will also give us important insight into other neurological disorders with no known etiology like Alzheimers, Autism and Epilepsy.

Remember, no donation is to small so please consider helping us reach our goal and get $30,000 MATCHED! Thank you for supporting Anthony and the Pitt Hopkins Research Foundation.

For more information on Pitt Hopkins please visit www.pitthopkins.org.