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Cincinnati Children’s will soon become a national biobank for scientists searching for better ways to treat pulmonary arterial hypertension (PAH), thanks to a five-year, $10 million federal grant awarded to the Division of Human Genetics.
William Nichols, PhD, will be principal investigator for a project that will collect clinical data and blood samples from more than 2,500 PAH patients followed at 23 medical centers. Genetic data generated from the samples will be shared with researchers worldwide. The grant is funded by the National Heart, Lung and Blood Institute (NHLBI).
The biobank specifically targets “WHO group 1 pulmonary arterial hypertension.” This group includes PAH that is inherited; caused by certain drugs or toxins; caused by congenital heart disease and other conditions; and cases with no known cause.
Approximately 1,000 new cases of WHO Group 1 PAH are diagnosed in the United States each year, a subset of the 100,000 cases of pulmonary hypertension diagnosed each year. Despite recent advances in treatment, the five-year survival rate is still only about 60 percent.
The relative rarity of PAH cases has been an obstacle for scientists working to identify the genes, molecular pathways and biomarkers related to the disease. That in turn has slowed efforts to develop improved treatments.
“This new biobank will become the world’s largest collection of patient samples for this disease,” Nichols says. “Once we receive samples, we will generate whole-genome SNP data and make that information available to other researchers along with the patient samples and associated clinical data. We also will sequence three or four genes known to contribute to the disease for mutations.”
The grant is the largest ever received by the Division of Human Genetics and one of several recent grants to Cincinnati Children’s that exceed $10 million.
“We believe this project will provide a much-needed catalyst for accelerating the effort to identify novel therapies for treating this devastating disorder,” Nichols says.
Cincinnati Children's will conduct gene analyses about pulmonary arterial hypertension (PAH).
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