iPS Cell Research for Ryan Stearn - Both One of a Kind

In September 2017, we discovered that Ryan’s special needs are attributed to a change in one of his genes known as PPM1D, an extremely rare genetic mutation. The change in the gene causes 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).

This opportunity has given us the hope that Dr. Lachman’s research will create a path to help Ryan, as well as, other children with neurodevelopment disorders to live enriching and productive lives.

We cannot raise this money alone; so, this is where we are asking for your generous support.

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

Ryan and family

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Office of Development
Phone: 718.430.2411

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