The Nichols Lab houses the PAH Biobank, which is a NIH/NHLBI funded resource of biological samples, genetic data, and clinical data for the PAH research community. Our goal is to further PAH research by providing the largest cohort of WHO Group 1 PAH biological specimens and data for researchers to use in their studies. We intend for our “power through numbers” to provide a robust study population for researchers to use in making new breakthroughs on the mechanisms and treatment of PAH.
The PAH Biobank consents and enrolls PAH patients at 28 Enrolling Centers across the United States with the goal of enrolling over 3000 WHO Group 1 PAH patients. For each biobank participant, there are three types of samples/data available:
- From the collected blood, we bank DNA, RNA, plasma, serum, and immortalized lymphoblastoid cell lines. These biological specimens are isolated from blood and banked within the Nichols Lab at Cincinnati Children’s.
- For each patient’s DNA, genetic data is generated and banked. This data includes:
- Sequencing of the coding regions of BMPR2, ACVRL1, ENG, CAV1, SMAD9, KCNK3, and EIF2AK4 via the Illumina Tru-Seq Custom Amplicon system.
- SNP genotyping of over 4.2M SNPs via the Illumina HumanOmni5 chips.
- Clinical data for each patient is collected via a secure, web-based eCRF that is completed by each Enrolling Center.
All of the biological samples and data listed above are available for researchers to use via a submission process. Details can be found at www.PAHBiobank.org.
Funded by: NHLBI grant, 5R24HL105333