HPSers participate in bowel research at the HPS Network Conference

Mar 29, 2017

People with Hermansky-Pudlak Syndrome (HPS) offered up stool and blood samples for a bowel research study being conducted by Dr. Louis Cohen, Assistant Professor at Mount Sinai Medical Center in New York. Samples were collected from any gene type of HPS and were needed from those with HPS who did, and did not, have bowel disease.

“Even though I don’t have the GI issues of HPS, I chose to participate in the project because I feel it could contribute important information to the researchers so they can compare those with, and those without, bowel disease, “ said Nancy Lee.

Karen Tillman, who has lived with the bowel disease of HPS since she was nine years old, also chose to participate. “It would be great to be a part of the solution for future generations so that no one would have to deal with all the emotional and physical distress that I have endured.”

The bowel disease of HPS is very similar to a more common disorder called Crohn’s disease. It can occur anywhere in the digestive track, but seems to be most common in the colon.

Stay tuned for future developments from this research project.