National research resource for pulmonary hypertension
William Nichols, PhD, leads the new National Biological Sample and Data Repository for Pulmonary Arterial Hypertension (PAH). This project is using a five-year, $10 million NHLBI grant to build a biorepository of blood samples obtained from participants in the national REVEAL registry. Twenty four centers nationwide are contributing to the biorepository, which is based here at Cincinnati Children’s. Genomic DNA, plasma, lymphocyte cDNA, and transformed lymphoblasts from 3,000 PAH patients will be available to the research community. Whole genome SNP genotypes and DNA sequence data also will be generated and shared.
Exome sequencing initiative
Cynthia Prows, MSN, CNS, developed, submitted, and obtained approval for a series of projects that will measure the performance of exome sequencing in clinical settings using a variety of strategies and will access parent’s experiences, and expectations, as well as uses of exome sequencing research results. Similar genetic studies of mood disorder are funded by the Oxley Foundation. These protocols will generate sustainable collaborations between our Division’s clinical and research faculty and faculty from other Cincinnati Children’s divisions and the UC College of Medicine.
Rare disease meets common neurodegenerative diseases
Ying Sun, PhD, You-Hai Xu, PhD, and Division Director Gregory Grabowski, MD, lead a project to elucidate the initiating events in the pathogenesis of CNS involvement in Gaucher disease as models for more common chronic brain diseases, including Parkinson and Alzheimer diseases. During the past year pathogenic links have been established between the autophagy and lysosomal systems and the glycosphinoglipid disruption in Gaucher disease mice and these chronic neurodegenerative diseases that could lead to new approaches to therapies for both these disease groups.
