Dear family and friends,
On November 4 together with 50,000 other passionate runners, we will be pounding the pavement in the 2018 New York City Marathon. We have been asked to lead the way in the second wave of fundraising efforts for Ryan Stearn. Ryan is a fun, loving, sweet boy whom we adore and want to help. We were excited to help support Ryan's Race for Change this past spring at Cynwyd Elementary and now we are even more excited to kick off Ryan's Race Runs NYC. Every step we take on November 4th will be for Ryan and 18 other children in the world diagnosed with a rare gene mutation known as PPM1D. Here is some background on Ryan's story. In September 2017, Elizabeth and Jonathan, Ryan's parents discovered through months of genetic testing that his special needs are attributed to a change in one of his genes known as PPM1D, causing an extremely rare genetic mutation. The change in the gene results in a premature termination of the protein that the gene codes for, leading to a protein that doesn't work properly. Dr. Herbert Lachman, a scientist at Albert Einstein College of Medicine, has taken Ryan’s case on with the aim to create iPS cells (induced pluripotent stem) that replicate his PPM1D mutation. iPS cells are very special – they have the capacity to be turned into any cell type in the human body, including neurons. Therefore, making iPS cells from individuals with intellectual and developmental disabilities (IDD), autism spectrum disorders (ASD), and certain psychiatric disorders provides researchers with the means to grow patient-specific neurons in the lab; a truly monumental achievement. Dr. Lachman’s research has revealed a number of potential targets for therapeutic intervention in ASD. We now want to apply iPS cell technology to study IDD caused by Ryan’s mutation, PPM1D, to understand the underlying genetic, molecular and cellular basis, for the development of eventual pharmaceutical-based treatments (gene therapy).
Wow, we know that was a lot of information and we appreciate you taking the time to read about Ryan's story. Approximately 9,000 slots were given to those running for charities this year and in 2017 charity runners helped raise more than $36 million. With your help, we have the opportunity to help raise the funds needed for Dr. Lachman’s research to help Ryan live a much more fulfilling life. Please help us reach and surpass our goal of raising $10,000!
If you prefer to make a donation by check, please include a note specifying the contribution is for iPS Cell Research and mail it to: Albert Einstein College of Medicine Office of Development 1300 Morris Park Avenue Harold & Muriel Block Building, Room 746 Bronx, NY 10461
For additional information please visit:
http://www.einstein.yu.edu/donors/lachman-research/
Donations made to the above link will also be credited to our Crowdrise campaign.
Thank you so much for your support!
Brian and Chris
