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Human Genetics

Significant Accomplishments

Gaucher disease linked with Parkinson’s

Gregory Grabowski, MD, You-Hai Xu, PhD, and Ying Sun, PhD have collaborated with researchers in Boston and Ottawa to show a mechanistic link between Gaucher disease and Parkinson disease. Based on these results, additional ongoing studies provide a framework for the dissection of the pathogenesis and potential novel treatments of Parkinson disease and other common neurodegenerative diseases.

Progress in HLH research

Kejian Zhang, MD, MBA, has collaborated with the National Institutes of Health and Stanford University on studies that have delineated the phenotype and molecular genetic characteristics in the development of familial hemophagocytic lymphohistiocytosis (HLH) and associated lymphoproliferative syndromes. These studies expand basic knowledge about the pathogenic mechanisms of these diseases and point toward targets to improve their treatment outcomes.

Pulmonary arterial hypertension advancements

William Nichols, PhD, contributed to significant advancements in understanding the genetic basis of Parkinson’s disease and pulmonary arterial hypertension (PAH). Major efforts focused on the establishment of the National Biological Sample and Data Repository for Pulmonary Arterial Hypertension in conjunction with investigators of the REVEAL registry. This national/international collaborative effort at Cincinnati Children’s will provide basic and clinical data for the analyses of the pathogenic mechanisms and treatment of PAH.