NHGRI (National Human Genome Research Institute) researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies. Findings on this ultra-rare disease, found/discovered in approximately 600 people in the world, were published in Blood Advances. The article is titled “The Clinical Spectrum of Erdheim-Chester Disease: An Observational Cohort Study.” "The discovery of new genes associated with ECD provides hope for improving the diagnoses of a disease that affects so many parts of the body. We also hope it will help us identify new treatments," said Juvianee I. Estrada-Veras, M.D., Clinical Investigator and Staff Clinician in the NHGRI's Medical Biochemical Genetics Residency Program. "Our work on ECD builds on the Institute's goals to advance medical knowledge about rare diseases and to potentially provide insights into more common disorders." ECD is caused by the accumulation of specialized white blood cells called histiocytes in different organs. The resulting inflammation damages organs and tissues throughout the body, causing them to become thickened, dense, and scarred. Histiocytes normally function to destroy foreign substances and protect the body from infection. ECD has no standard therapy, although consensus guidelines for clinical management were published in 2014. Between 2011 and 2015, researchers examined 60 adults with ECD at the NIH Clinical Center. Of 59 samples that were available for molecular testing, half were found to have BRAF V600E gene mutations, which are sometimes seen in colon cancer, lung cancer, thyroid cancer, brain tumors, and some blood cancers. Other patients had mutations in genes of the MAPK pathway, which controls cell growth and proliferation.
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