HPS Network funds digestive disease research

July 28, 2016

colitis-ulcerativa_0The HPS Network awarded a $40,000 grant to Dr. Edward Behrens and Dr. Michael Marks at the Children’s Hospital of Philadelphia to investigate the digestive disease of Hermansky-Pudlak Syndrome (HPS). This grant would not have been possible without the generous supporters of the HPS Network. Preliminary experiments using the cells from a patient with HPS type 4 showed dysregulation of cytokines in myeloid cells. Cytokines are inflammatory molecules that turn on the immune system. There are already a number of FDA approved medications that can block cytokine function, thus identifying cytokines that are overproduced by HPS cells could lead to better therapies to treat the gastrointestinal disease of HPS.

The team’s research will investigate how HPS mutations affect the function of myeloid cells in humans as well as use a mouse model of HPS type 4 to investigate immune function in the gut.

Dr. Edward M. Behrens and Dr. Michael Marks are leading this research effort.

Edward M. Behrens, M.D. is the Chief of the Division of Rheumatology and the Joseph Lee Hollander Chair in Pediatric Rheumatology at the Children’s Hospital of Philadelphia. He has recently begun a collaboration with the Division of Gastroenterology to understand how genetic mutations can lead to inflammation of the gut called colitis.

Dr. Michael S. Marks, PhD, is a Professor of Pathology and Laboratory Medicine at The Children’s Hospital of Philadelphia Research Institute. He has focused his career on understanding how integral membrane protein complexes are assembled and sorted to the appropriate compartments within the late secretory and endocytic pathways; how sorting and assembly contribute to the biogenesis of specific organelles in several cell types; how these processes impact biological function in the pigmentary, blood clotting, and immune systems; and how they are disrupted by often rare genetic diseases.

 

Share this page Share on FacebookTweet about this on TwitterEmail this to someonePrint this page
Contact Us
Phone: 1 (800) 789-9HPS
Email: info@hpsnetwork.org
Disclaimer
This Website is intended to provide information. It is not intended to, nor does it, constitute medical or other advice. Readers are warned not to take any action with regard or otherwise, based on the information on this website without first consulting a physician.