Our Rare Disease Science Challenge ended March 15 and Qiang Chang was voted as the winner of our $10,000 research grant. His project was selected from 10 finalists and received over 15,000 votes with the help of organizations, such as the International Rett Syndrome Foundation, and parents with afflicted children. Dr. Chang is an assistant professor at the University of Wisconsin-Madison and will use the prize to study MeCP2, the gene that causes Rett Syndrome.

Rett Syndrome (RTT) is a rare disease that affects infant girl brain development, causing problems with cognition, senses, motor, and autonomic function. It is especially devastating since it occurs after 12-16 months of normal infant development, followed by stagnation and eventual regression of communication and motor skills. Here’s Dr. Chang’s summary of what his lab plans to do with the prize money

qiang chang rare disease rett

Dr. Qiang Chang will use the prize money to study Rett Syndrome

In order to find out how defective MECP2 causes RTT, it is critical to reveal how MECP2 works. Based on previous studies in the field, it is clear that MECP2 does not work alone. However, many of its interacting partners remain unknown. This task has been challenging because the physical interaction between MECP2 and its partners is not very stable and may be only transient in nature. To overcome this obstacle, we plan to stabilize such transient interactions by reversible crosslinking. In addition, our lab has generated unique tools to increase the efficiency of isolating the complexes of MECP2 and its partners. Finally, we will combine those tools with more sensitive detection methods to further increase the chance of identifying those important partners.

The successful completion of the project may not only advance our understanding of the disease mechanism, but also lead to novel drug targets for developing treatments for RTT. The $10,000 prize will be used to partially support a graduate student to conduct the proposed experiments.

We are excited to see how Dr. Chang’s project will progress and we hope that it offers up new insights to Rett Syndrome. We also look forward to see how collaborations between our service sponsors and rare disease researchers go, as we hope to rally even more life science companies to fight rare disease.

To view the full results of the $10,000 prize voting, check out http://www.raregenomics.org/beheard-challenge.php.

If you are interested in learning about the fight against rare disease, check out “How to fight rare disease” and its great infographic.